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https://en.wikipedia.org/wiki/PNKD | PNKD is the abbreviation for a human neurological movement disorder paroxysmal nonkinesiogenic dyskinesia. Like many other human genetics disorders, PNKD also refers to the disease, the disease gene and the encoded protein. (PNKD) is a protein that in humans is encoded by the PNKD gene. Alternative splicing results in the transcription of three isoforms. The mouse ortholog is called brain protein 17 (Brp17).
Structure
This gene is located on chromosome 2 at the band 2q35 and contains 12 exons. At least three isoforms of varying lengths (long, medium, and short) can be produced by alternative splicing of this gene. While the gene products of the long (PNKD-L) and medium (PNKD-M) isoforms contain the C-terminal β-lactamase domain, the short (PNKD-S) isoform, commonly referred to as myofibrillogenesis regulator-1 (MR-1), contains only three exons and lacks homology to any known protein. These isoforms also differ in their tissue-specific expression and subcellular localization. Specifically, PNKD-L is only expressed in the central nervous system whereas PNKD-M and PNKD-S are ubiquitously expressed across tissues. Moreover, PNKD-L localizes to the cell membrane, PNKD-S to the cytoplasm and nucleus, and PNKD-M to the mitochondrion.
Function
The function of PNKD proteins are unknown but the long and medium isoforms of PNKD contain a conserved β-lactamase domain which suggest it may function as an enzyme. The closest mammalian homolog to PNKD is HAGH, an enzyme involves in a |
https://en.wikipedia.org/wiki/GAPDHS | Glyceraldehyde-3-phosphate dehydrogenase, spermatogenic or glyceraldehyde-3-phosphate dehydrogenase, testis-specific is an enzyme that in humans is encoded by the GAPDHS gene.
Function
This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme functions in a nicotinamide adenine dinucleotide-dependent manner to remove hydrogen and add phosphate to glyceraldehyde 3-phosphate to form 1,3-diphosphoglycerate. During spermiogenesis, this enzyme may play an important role in regulating the switch between different energy-producing pathways, and it is required for sperm motility and male fertility.
In melanocytic cells GAPDHS gene expression may be regulated by MITF.
Interactive pathway map
References
Further reading |
https://en.wikipedia.org/wiki/EIF2C1 | Protein argonaute-1 is a protein that in humans is encoded by the EIF2C1 gene.
Function
This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of closely related family members including argonaute 3, and argonaute 4.
Model organisms
Model organisms have been used in the study of EIF2C1 function. A conditional knockout mouse line, called Eif2c1tm1a(KOMP)Wtsi was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty two tests were carried out on mutant mice and two significant abnormalities were observed: homozygous mutants were subviable and females also had decreased circulating aspartate transaminase levels.
References
Further reading
Genes mutated in mice |
https://en.wikipedia.org/wiki/SIGLEC7 | Sialic acid-binding Ig-like lectin 7 is a protein that in humans is encoded by the SIGLEC7 gene. SIGLEC7 has also been designated as CD328 (cluster of differentiation 328).
References
Further reading
External links
Clusters of differentiation
SIGLEC |
https://en.wikipedia.org/wiki/B3GAT1 | 3-beta-glucuronosyltransferase 1 (B3GAT1) is an enzyme that in humans is encoded by the B3GAT1 gene, whose enzymatic activity creates the CD57 epitope on other cell surface proteins. In immunology, the CD57 antigen (CD stands for cluster of differentiation) is also known as HNK1 (human natural killer-1) or LEU7. It is expressed as a carbohydrate epitope that contains a residue in several adhesion molecules of the nervous system.
Function
The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized.
Immunohistochemistry
In anatomical pathology, CD57 (immunostaining) is similar to CD56 for use in differentiating neuroendocrine tumors from others. Using immunohistochemistry, CD57 molecule can be demonstrated in around 10 to 20% of lymphocytes, as well as in some epithelial, neural, and chromaffin cells. Among lymphocytes, CD57 positive cells are typically either T cells or NK cells, and are most commonly found within the germinal centres of lymph nodes, tonsils, and the spleen.
There is an increase in the number of circulating CD57 positive cells in the blood of patients who |
https://en.wikipedia.org/wiki/IL36A | Interleukin-36 alpha also known as interleukin-1 family member 6 (IL1F6) is a protein that in humans is encoded by the IL36A gene.
References
Further reading |
https://en.wikipedia.org/wiki/CNOT7 | CCR4-NOT transcription complex subunit 7 is a protein that in humans is encoded by the CNOT7 gene. It is a subunit of the CCR4-Not deadenylase complex.
Function
The protein encoded by this gene binds to an anti-proliferative protein, B-cell translocation protein 1, which negatively regulates cell proliferation. Binding of the two proteins, which is driven by phosphorylation of the anti-proliferative protein, causes signaling events in cell division that lead to changes in cell proliferation associated with cell-cell contact. The protein has both mouse and yeast orthologs. Alternate splicing of this gene results in two transcript variants encoding different isoforms.
Interactions
CNOT7 has been shown to interact with:
BTG1,
PABPC1,
TOB1, and
TOB2.
References
Further reading
External links |
https://en.wikipedia.org/wiki/CPSF1 | Cleavage and polyadenylation specificity factor subunit 1 is a protein that in humans is encoded by the CPSF1 gene.
In most cases eukaryotic pre-messenger(m)RNA 3 prime ends are processed in two coordinated steps. First there is a site-specific cleavage by an endonuclease and then the addition of a poly(A) tail at the 3 prime end of the 5 prime cleavage product. Cleavage requires four multisubunit complexes, namely cleavage and polyadenylation specificity factor (CPSF), cleavage stimulation factor (CstF), cleavage factors Im and IIm (CFIm and CFIIm), along with a single subunit poly(A)polymerase (PAP). CPSF1 is the largest component of the CPSF complex composed of CPSF1, CPSF2, CPSF3, CPSF4, FIP1L1, Symplekin and WDR33 and located in the nucleus.
References
Further reading
External links |
https://en.wikipedia.org/wiki/ALG6 | Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase is an enzyme that in humans is encoded by the ALG6 gene.
Function
This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic.
References
Further reading
External links
GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview |
https://en.wikipedia.org/wiki/DNMT3L | DNA (cytosine-5)-methyltransferase 3-like is an enzyme that in humans is encoded by the DNMT3L gene.
Function
CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear protein with similarity to DNA methyltransferases. This protein is not thought to function as a DNA methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, this protein does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and it is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternative splicing results in two transcript variants. An additional splice variant has been described but its biological validity has not been determined.
Interactions
DNMT3L has been shown to interact with HDAC1.
References
Further reading |
https://en.wikipedia.org/wiki/ARF5 | ADP-ribosylation factor 5 is a protein that in humans is encoded by the ARF5 gene.
ADP-ribosylation factor 5 (ARF5) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2, and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The members of each class share a common gene organization. The ARF5 gene spans approximately 3.2kb of genomic DNA and contains six exons and five introns.
Interactions
ARF5 has been shown to interact with ARFIP2.
References
External links
Further reading |
https://en.wikipedia.org/wiki/ATBF1 | Zinc finger homeobox protein 3 is a protein that in humans is encoded by the ZFHX3 gene.
References
Further reading
External links
Transcription factors |
https://en.wikipedia.org/wiki/ATP1A4 | Sodium/potassium-transporting ATPase subunit alpha-4 is an enzyme that in humans is encoded by the ATP1A4 gene.
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified.
References
External links
Further reading |
https://en.wikipedia.org/wiki/IGHD | Ig delta chain C region is a protein that in humans is encoded by the IGHD gene.
References
Further reading |
https://en.wikipedia.org/wiki/KCND3 | Potassium voltage-gated channel subfamily D member 3 also known as Kv4.3 is a protein that in humans is encoded by the KCND3 gene. It contributes to the cardiac transient outward potassium current (Ito1), the main contributing current to the repolarizing phase 1 of the cardiac action potential.
Function
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes – shaker, shaw, shab, and shal – have been identified in Drosophila, and each has been shown to have human homolog(s).
Kv4.3 is a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member includes two isoforms with different sizes, which are encoded by alternatively spliced transcript variants of this gene.
Clinical significance
Gain of function is believed to cause Brugada syndrome although only indirectly shown by mutations in the beta subunit KCNE3 which causes gain of function of Kv4.3.
See also
Voltage-gated potassium channel
References
Further reading
External links
GeneReviews/NIH/NCBI/UW entry on Bruga |
https://en.wikipedia.org/wiki/KCNJ10 | ATP-sensitive inward rectifier potassium channel 10 is a protein that in humans is encoded by the KCNJ10 gene.
Function
This gene encodes a member of the inward rectifier-type potassium channel family, Kir4.1, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. Kir4.1, may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes.
EAST syndrome
Humans with mutations in the KCNJ10 gene that cause loss of function in related K+ channels can display Epilepsy, Ataxia, Sensorineural deafness and Tubulopathy, the EAST syndrome (Gitelman syndrome phenotype) reflecting roles for KCNJ10 gene products in the brain, inner ear and kidney. The Kir4.1 channel is expressed in the Stria vascularis and is essential for formation of the endolymph, the fluid that surrounds the mechanosensitive stereocilia of the sensory hair cells that make hearing possible.
Rett Syndrome
Rett syndrome is a neurological disorder characterized by a mutation in the MeCP2 gene. This mutation results in less MeCP2. KCNJ10 expression is upregulated by the transcription factor MeCP2. MeCP2 deficiency leads to less Kir4.1 channels present on astrocytes in the brain. Since there are fewer channels allowing potassium into the cells, extracellular potassium |
https://en.wikipedia.org/wiki/KLRB1 | Killer cell lectin-like receptor subfamily B, member 1, also known as KLRB1, NKR-P1A or CD161 (cluster of differentiation 161), is a human gene.
Function
Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytokines after immune stimulation. Several genes of the C-type lectin superfamily, including the rodent NKRP1 family of glycoproteins, are expressed by NK cells and may be involved in the regulation of NK cell function. The KLRB1 protein contains an extracellular domain with several motifs characteristic of C-type lectins, a transmembrane domain, and a cytoplasmic domain. The KLRB1 protein, NKR-P1A or CD161, is classified as a type II membrane protein because it has an external C terminus. NKR-P1A, the receptor encoded by the KLRB1 gene, recognizes Lectin Like Transcript-1 (LLT1) as a functional ligand.
References
Further reading
Clusters of differentiation |
https://en.wikipedia.org/wiki/ABLIM1 | Actin binding LIM protein 1, also known as ABLIM1, is a protein which in humans is encoded by the ABLIM1 gene.
Function
This gene encodes a cytoskeletal LIM protein that binds to actin filaments via a domain that is homologous to erythrocyte dematin. LIM domains, found in over 60 proteins, play key roles in the regulation of developmental pathways. LIM domains also function as protein-binding interfaces, mediating specific protein-protein interactions. The protein encoded by this gene could mediate such interactions between actin filaments and cytoplasmic targets. Alternatively spliced transcript variants encoding different isoforms have been identified.
Interactions
ABLIM1 has been shown to interact with LDOC1.
References
External links
Further reading |
https://en.wikipedia.org/wiki/MARK3 | MAP/microtubule affinity-regulating kinase 3 is an enzyme that in humans is encoded by the MARK3 gene.
Interactions
MARK3 has been shown to interact with Stratifin.
It has been linked to a form of genetic blindness, believed to be a genetic recessive disease that progressively destroys the eyes.
References
Further reading
EC 2.7.11 |
https://en.wikipedia.org/wiki/MEP1B | Meprin A subunit beta is a protein that in humans is encoded by the MEP1B gene.
Meprins are multidomain zinc metalloproteases that are highly expressed in mammalian kidney and intestinal brush border membranes and in leukocytes and certain cancer cells. Mature meprins are oligomers of evolutionarily related, separately encoded alpha and/or beta subunits. Homooligomers of meprin-alpha (MEP1A; MIM 600388) are secreted; oligomers containing meprin-beta are associated with the plasma membrane. Substrates include bioactive peptides and extracellular matrix proteins. See MIM 600388 for further information on meprins.[supplied by OMIM]
References
Further reading |
https://en.wikipedia.org/wiki/MFAP2 | Microfibrillar-associated protein 2 is a protein that in humans is encoded by the MFAP2 gene.
Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. This gene encodes two transcripts with two alternatively spliced 5' untranslated exons. These two transcripts contain the same eight coding exons, and therefore, encode the same protein.
References
Further reading |
https://en.wikipedia.org/wiki/MSH5 | MutS protein homolog 5 is a protein that in humans is encoded by the MSH5 gene.
Function
This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair or meiotic recombination processes. This protein is similar to a Saccharomyces cerevisiae protein that participates in meiotic segregation fidelity and crossing-over. This protein forms heterooligomers with another member of this family, mutS homolog 4. Alternative splicing results in four transcript variants encoding three different isoforms.
Mutations
Mice homozygous for a null Msh5 mutation (Msh5-/-) are viable but sterile. In these mice, the prophase I stage of meiosis is defective due to the disruption of chromosome pairing. This meiotic failure leads, in male mice, to diminution of testicular size, and in female mice, to a complete loss of ovarian structures.
A genetic investigation was performed to test women with premature ovarian failure for mutations in each of four meiotic genes. Among 41 women with premature ovarian failure two were found to be heterozygous for a mutation in the MSH5 gene; among 34 fertile women (controls) no mutations were found in the four tested genes.
These findings in mouse and human indicate that the MSH5 protein plays an important role in meiotic recombination.
In the worm Caenorhabditis elegans, the MSH5 protein is required during meiosis both for normal spontaneous and for gamma-irradiation induced crossover recombination and chiasma formatio |
https://en.wikipedia.org/wiki/MT1E | Metallothionein-1E is a protein that in humans is encoded by the MT1E gene.
References
Further reading |
https://en.wikipedia.org/wiki/MT1X | Metallothionein 1X, also known as MT1X, is a protein which in humans is encoded by the gene.
See also
Metallothionein
References
Further reading |
https://en.wikipedia.org/wiki/MTF1 | Metal regulatory transcription factor 1 is a protein that in humans is encoded by the MTF1 gene.
Function
This gene encodes a transcription factor that induces expression of metallothioneins and other genes involved in metal homeostasis in response to heavy metals such as cadmium, zinc, copper, and silver. The protein is a nucleocytoplasmic shuttling protein that accumulates in the nucleus upon heavy metal exposure and binds to promoters containing a metal-responsive element (MRE).
References
Further reading
External links
Transcription factors |
https://en.wikipedia.org/wiki/Myosin-2 | Myosin-2 (myosin heavy chain 2) is a protein that in humans is encoded by the MYH2 gene.
References
Further reading |
https://en.wikipedia.org/wiki/MYL4 | Atrial Light Chain-1 (ALC-1), also known as Essential Light Chain, Atrial is a protein that in humans is encoded by the MYL4 gene. ALC-1 is expressed in fetal cardiac ventricular and fetal skeletal muscle, as well as fetal and adult cardiac atrial tissue. ALC-1 expression is reactivated in human ventricular myocardium in various cardiac muscle diseases, including hypertrophic cardiomyopathy, dilated cardiomyopathy, ischemic cardiomyopathy and congenital heart diseases.
Structure
ALC-1 is a 21.6 kDa protein composed of 197 amino acids. ALC-1 is expressed in fetal cardiac ventricular and fetal skeletal muscle, as well as fetal and adult cardiac atrial tissue. ALC-1 binds the neck region of muscle myosin in adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. Relative to ventricular essential light chain VLC-1, ALC-1 has an additional ~40 amino-acid N-terminal region that contains four to eleven residues that are critical for binding actin and modulating myosin kinetics.
Function
ALC-1 is expressed very early in skeletal muscle and cardiac muscle development; two E-boxes and CArG box in the MYL4 promoter region regulate transcription. ALC-1 expression in cardiac ventricles decreases in early postnatal development, but is highly expressed in atria throughout all of adulthood. Normal atrial function is essential for embryogenesis, as inactivation of the MYL7 gene was embryonic lethal at ED10.5-11.5.
Evidence of ALC |
https://en.wikipedia.org/wiki/NFE2L1 | Nuclear factor erythroid 2-related factor 1 (Nrf1) also known as nuclear factor erythroid-2-like 1 (NFE2L1) is a protein that in humans is encoded by the NFE2L1 gene. Since NFE2L1 is referred to as Nrf1, it is often confused with nuclear respiratory factor 1 (Nrf1).
NFE2L1 is a cap ‘n’ collar, basic-leucine zipper (bZIP) transcription factor. Several isoforms of NFE2L1 have been described for both human and mouse genes. NFE2L1 was first cloned in yeast using a genetic screening method. NFE2L1 is ubiquitously expressed, and high levels of transcript are detected in the heart, kidney, skeletal muscle, fat, and brain. Four separate regions — an asparagine/serine/threonine, acidic domains near the N-terminus, and a serine-rich domain located near the CNC motif — are required for full transactivation function of NFE2L1. NFE2L1 is a key regulator of cellular functions including oxidative stress response, differentiation, inflammatory response, metabolism, cholesterol handling and maintaining proteostasis.
Interactions
NFE2L1 binds DNA as heterodimers with one of small Maf proteins (MAFF, MAFG, MAFK). NFE2L1 has been shown to interact with C-jun.
Cellular homeostasis
NFE2L1 regulates a wide variety of cellular responses, several of which are related to important aspects of protection from stress stimuli. NFE2L1 is involved in providing cellular protection against oxidative stress through the induction of antioxidant genes. The glutathione synthesis pathway is catalyzed by |
https://en.wikipedia.org/wiki/OAZ1 | Ornithine decarboxylase antizyme is an enzyme that in humans is encoded by the OAZ1 gene.
Ornithine decarboxylase catalyzes the conversion of ornithine to putrescine in the first and apparently rate-limiting step in polyamine biosynthesis. The ornithine decarboxylase antizymes play a role in the regulation of polyamine synthesis by binding to and inhibiting ornithine decarboxylase. Antizyme expression is auto-regulated by polyamine-enhanced translational frameshifting. The antizyme encoded by this gene inhibits ornithine decarboxylase and accelerates its degradation.
References
Further reading |
https://en.wikipedia.org/wiki/ORC4 | Origin recognition complex subunit 4 is a protein that in humans is encoded by the ORC4 (ORC4L) gene.
Function
The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. It has been shown to form a core complex with ORC2L, -3L, and -5L. Three alternatively spliced transcript variants encoding the same protein have been reported.
Interactions
ORC4 has been shown to interact with:
MCM2,
MCM3,
MCM4,
MCM6,
ORC1,
ORC2,
ORC3,
ORC5, and
ORC6.
References
Further reading |
https://en.wikipedia.org/wiki/Orthodenticle%20homeobox%202 | Homeobox protein OTX2 is a protein that in humans is encoded by the OTX2 gene.
Function
This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and plays a role in brain and sensory organ development. A similar protein in mice is required for proper forebrain development. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants may exist, but their full length sequences have not been determined.
Otx2 is a group of homeobox genes that are typically described as a head organizer in the primitive streak stage of embryonic development. Otx2, which is an encoded protein that plays the role of a transcription factor, has also been shown to be involved in the regional patterning of the midbrain and forebrain. This group of genes demonstrates later in progression to have an influence on the formation of the sensory organs, pituitary gland, pineal gland, inner ear, eye and optic nerve. Otx2 not only has a prominent role in developing this area but also aids in ensuring that the retina and brain stay intact. This group of genes has a huge role in development and if it is expressed incorrectly it can have detrimental effects on the fetus. Otx2 mutations have also been associated with seizures, developmental delays, short stature, structural abnormalities of the pituitary gland, and an early onset of degeneration of the retina |
https://en.wikipedia.org/wiki/PBX2 | Pre-B-cell leukemia transcription factor 2 is a protein that in humans is encoded by the PBX2 gene.
Function
This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6.
Interactions
PBX2 has been shown to interact with HOXA9.
References
Further reading
External links
Transcription factors |
https://en.wikipedia.org/wiki/FIS1 | Mitochondrial fission 1 protein (FIS1) is a protein that in humans is encoded by the FIS1 gene on chromosome 7. This protein is a component of a mitochondrial complex, the ARCosome, that promotes mitochondrial fission. Its role in mitochondrial fission thus implicates it in the regulation of mitochondrial morphology, the cell cycle, and apoptosis. By extension, the protein is involved in associated diseases, including neurodegenerative diseases and cancers.
Structure
The protein encoded by this gene is a 16 kDa integral protein situated in the outer mitochondrial membrane (OMM). It is composed of a transmembrane domain at the C-terminal and a cytosolic domain at the N-terminal. The transmembrane domain anchors FIS1 in the OMM, though it has been observed to target different cellular compartments, such as the peroxisome, depending on its hydrophobicity, charge, and length. Meanwhile, the cytosolic domain contains a bundle of six helices, four of which contain two tandem tetratricopeptide repeat (TPR)-like motifs. These motifs form a concave surface by their combined superhelical structure and potentially bind another FIS1 protein to form a dimer, or other proteins. Moreover, the N-terminal arm can dock at, and thus obstruct, the TPR motifs, allowing the protein to exist in a dynamic equilibrium between “open” and “closed” states.
Function
FIS1 is indirectly involved in mitochondrial fission via binding dynamin-related protein 1 (DRP1). By extension, FIS1 helps regulate the |
https://en.wikipedia.org/wiki/SH3GLB1 | Endophilin-B1 is a protein that in humans is encoded by the SH3GLB1 gene. Endophilin-B1 belongs to the Bin/Amphiphysin/Rvs167 (BAR) family of proteins and plays a critical role in mitochondrial fission and fusion, as well as in autophagy and apoptosis. Loss of functional endophilin-B1 is seen in many different forms of cancer. The link between carcinogenesis and dysregulation of cell death pathways suggests that endophilin-B1 serves a critical tumor suppressor role in the cell, although the underlying mechanisms are not known.
Structure
In the presence of model biological membranes, endophilin-B1 dimers assemble into helical scaffolds around the membrane and drive its tubulation.
Interactions
In addition to the membrane binding and remodeling properties endophilin-B1 shares with many other BAR proteins, endophilin-B1 interacts with the pro-apoptotic factor Bcl-2-associated X protein (Bax) and SH3GLB2. It has also been shown to interact with a wide variety of proteins through a canonical SH3 domain that enables PxxP motif-containing protein interactions, including Beclin-1, amphiphysin-1, amphiphysin-2, and huntingtin.
References
Further reading |
https://en.wikipedia.org/wiki/TNFRSF12A | Tumor necrosis factor receptor superfamily member 12A also known as the TWEAK receptor (TWEAKR) is a protein that in humans is encoded by the TNFRSF12A gene.
References
Further reading
Clusters of differentiation
TNF receptor family |
https://en.wikipedia.org/wiki/ATP6V1A | V-type proton ATPase catalytic subunit A is an enzyme that in humans is encoded by the ATP6V1A gene.
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist.
References
External links
Further reading |
https://en.wikipedia.org/wiki/PEX12 | Peroxisome assembly protein 12 is a protein that in humans is encoded by the PEX12 gene.
Function
PEX12 is needed for protein import into peroxisomes. This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes.
Clinical significance
The peroxisome biogenesis disorders (PBDs; MIM 601539) are a group of genetically heterogeneous diseases that are usually lethal in early infancy. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. This cellular phenotype is shared by yeast 'pex' mutants, and human orthologs of yeast PEX genes defective in some PBD complementation groups (CGs).
Interactions
PEX12 has been shown to interact with PEX10, PEX5 and PEX19.
References
Further reading
External links
GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
OMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum |
https://en.wikipedia.org/wiki/PEX13 | Peroxisomal membrane protein PEX13 is a protein that in humans is encoded by the PEX13 gene. It located on chromosome 2 next to KIAA1841
Interactions
PEX13 has been shown to interact with PEX14, PEX5 and PEX19.
References
Further reading
External links
GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
OMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum |
https://en.wikipedia.org/wiki/PGM1 | Phosphoglucomutase-1 is an enzyme that in humans is encoded by the PGM1 gene.
The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red blood cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause CDG syndrome type 1t (CDG1T, formerly known as glycogen storage disease type XIV). Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]
Structure
The PGM1 gene is localized to the first chromosome, with its specific region being 1p31. The complete PGM1 gene spans over 65 kb and contains 11 exons, and the sites of the two mutations which form the molecular basis for the common PGM1 protein polymorphism lie in exons 4 and 8 and are 18 kb apart. Within this region there is a site of intragenic recombination. There are two alternatively spliced first exons, one of which, exon 1A, is transcribed in a wide variety of cell types; the other, exon 1B, is transcribed in fast muscle tissue. Exon 1A is transcribed from a promoter that has the structural hallmarks of a housekeeping promoter but lies more than 35 kb upstream of exon 2. Exon 1B lies 6 kb upstrea |
https://en.wikipedia.org/wiki/Prolactin-induced%20protein | Prolactin-inducible protein also known as gross cystic disease fluid protein 15 (GCDFP-15), extra-parotid glycoprotein (EP-GP), gp17 seminal actin-binding protein (SABP) or BRST2 is a protein that in humans is encoded by the PIP gene. It is upregulated by prolactin and androgens and downregulated by estrogen.
Function
The protein has a physiological function in regulation of water transport mainly in apocrine glands in the axilla, vulva, eyelid and ear canal, serous cells of the submandibular salivary gland, serous cells of the submucosal glands of the bronchi, and accessory lacrimal glands as well as cutaneous eccrine glands. It is also found in amniotic fluid and seminal fluid.
PIP has the ability to bind immunoglobulin G (IgG), IgG-Fc, CD4-T cell receptor suggesting a wide range of immunological functions. PIP also binds to AZGP1. PIP exerts aspartyl proteinase activity able to cleave fibronectin.
PIP can bind different species of bacteria showing highest affinity to streptococci thus playing a role in non-immune defense of the body against pathogenic bacterial strains.
Mitogenic effect of PIP was observed on both normal and malignant breast epithelial cells.
Use as marker and significance in disease
Prolactin induced protein (called GCDFP-15 in this context) in breast cyst fluid or breast tissue serves as marker of both benign and malignant apocrine metaplasia as the protein is not normally expressed in breast tissue. It is characteristic of low grade apocrin |
https://en.wikipedia.org/wiki/PLS3 | Plastin-3 is a highly conserved protein that in humans is encoded by the PLS3 gene on the X chromosome.
Function
Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). The C-terminal 570 amino acids of the T-plastin and L-plastin proteins are 83% identical. It contains a potential calcium-binding site near the N-terminus.
Clinical significance
Defects in PLS3 are associated with osteoporosis and bone fracture in humans and in knockout zebrafish.
References
Further reading
EF-hand-containing proteins |
https://en.wikipedia.org/wiki/KLK7 | Kallikrein-related peptidase 7 (KLK7) is a serine protease that in humans is encoded by the KLK7 gene. KLK7 was initially purified from the epidermis and characterised as stratum corneum chymotryptic enzyme (SCCE). It was later identified as the seventh member of the human kallikrein family, which includes fifteen homologous serine proteases located on chromosome 19 (19q13).
Gene
Alternative splicing of the KLK7 gene results in two transcript variants encoding the same protein.
Function
KLK7 is secreted as an inactive zymogen in the stratum granulosum layer of the epidermis, requiring proteolytic cleavage of the short N-terminal pro-region to liberate activated enzyme. This may be performed by KLK5 or matriptase, which are in vitro activators of KLK7.
Once active, KLK7 is able to cleave desmocollin and corneodesmosin. These proteins constitute the extracellular component of corneodesmosomes, intercellular cohesive structures which link the intermediate filaments of adjacent cells in the stratum corneum. Proteolysis of corneodesmosomes is required for desquamation, the shedding of corneocytes from the outer layer of the epidermis. This indicates a role for KLK7 in maintaining skin homeostasis. For example, KLK7 expression is highly downregulated at acral surfaces where desquamation is delayed and the epidermis is thick.
Both KLK5 and KLK14, other skin-expressed proteases, also cleave corneodesmosomal proteins. KLK5 is able to undergo autoactivation, as well as activating |
https://en.wikipedia.org/wiki/PTPRR | Protein tyrosine phosphatase receptor-type R is an enzyme that in humans is encoded by the PTPRR gene.
Function
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracellular catalytic domains, and thus represents a receptor-type PTP. The similar gene predominantly expressed in mouse brain was found to associate with, and thus regulate the activity and cellular localization of MAP kinases. The rat counterpart of this gene was reported to be regulated by the nerve growth factor, which suggested the function of this gene in neuronal growth and differentiation.
Interactions
PTPRR has been shown to interact with MAPK7.
References
Further reading |
https://en.wikipedia.org/wiki/Pregnancy%20zone%20protein | Pregnancy zone protein (PZP), also known as the pregnancy-associated α2-glycoprotein (α2-PAG or PAα2G), is a protein which in humans is encoded by the PZP gene on chromosome 12. PZP is part of the alpha-2 globulin family of proteins. It is often associated with pregnancy, during which it can be the most abundant among the plasma proteins. PZP is believed to play a role in immune-regulation during pregnancy, however many aspects of its mechanism, function and structure are yet to be determined. Recent research has largely focused on determining how dysregulated PZP levels can act as a markers of various diseases.
Discovery
The first publication reporting PZP was produced in 1959 by O. Smithies. This was a result of an experimental process using starch gel zone-electrophoresis, which detected a protein band in the sera of 10% of the studied women in late pregnancy and after delivery. Over the following years the detection of the protein was improved by researchers such as J. F. Afonso and R. R. Alvarez.
Nomenclature
Since its discovery, PZP has been synonymously referred to by numerous names in scholarly literature. These include the following: α2-pregnoglobulin, pregnancy-associated α2-glycoprotein, α-acute-phase glycoprotein, alpha-2-macroglobulin like, Xh-antigen, Schwangerschaftsprotein-3, Pα-1, pregnancy-associated α-macroglobulin, pregnancy-associated globulin, and α2-PAG.
Gene expression and protein localisation
The PZP gene contains 36 exons and is located on the |
https://en.wikipedia.org/wiki/REV1 | DNA repair protein REV1 is a protein that in humans is encoded by the REV1 gene.
This gene encodes a protein with similarity to the S. cerevisiae mutagenesis protein Rev1. The Rev1 proteins contain a BRCT domain, which is important in protein-protein interactions. A suggested role for the human Rev1-like protein is as a scaffold that recruits DNA polymerases involved in translesion synthesis (TLS) of damaged DNA. Two alternatively spliced transcript variants that encode different proteins have been found.
Rev1 is a Y family DNA polymerase; it is sometimes referred to as a deoxycytidyl transferase because it only inserts deoxycytidine (dC) across from lesions. Whether G, A, T, C, or an abasic site, Rev1 will always add a C. Rev1 has the ability to always add a C, because it uses an arginine as a template which complements well with C. Yet it is believed that Rev1 rarely uses its polymerase activity; rather it is thought that Rev1's primary role is as a protein landing pad, whereby it helps direct the recruitment of TLS proteins, especially Pol ζ (Rev3/Rev7).
Interactions
REV1 has been shown to interact with MAD2L2. It is believed that Rev1 may interact with PCNA, once ubiquitylated due to a lesion, and help recruit Pol ζ (Rev3/Rev7) a B family polymerase involved in TLS.
References
Further reading |
https://en.wikipedia.org/wiki/LIMA1 | LIM domain and actin-binding protein 1 is a protein that in humans is encoded by the LIMA1 gene.
EPLIN is a cytoskeleton-associated protein that inhibits actin filament depolymerization and cross-links filaments in bundles (Maul et al., 2003).[supplied by OMIM]
References
Further reading |
https://en.wikipedia.org/wiki/TH1L | Negative elongation factor C/D is a protein that in humans is encoded by the TH1L gene.
Function
The NELF complex of proteins interacts with the DSIF protein complex to repress transcriptional elongation by RNA polymerase II. The protein encoded by this gene is an essential part of the NELF complex. Alternative translation initiation site usage results in the formation of two isoforms with different N-termini.
Interactions
TH1L has been shown to interact with:
ARAF,
Cofactor of BRCA1, and
RDBP.
References
Further reading |
https://en.wikipedia.org/wiki/RAB14 | Ras-related protein Rab-14 is a protein that in humans is encoded by the RAB14 gene.
References
Further reading |
https://en.wikipedia.org/wiki/PIGT | GPI transamidase component PIG-T is an enzyme that in humans is encoded by the PIGT gene.
This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins.
Interactions
PIGT has been shown to interact with PIGK and GPAA1.
References
Further reading |
https://en.wikipedia.org/wiki/NLGN3 | Neuroligin-3 is a protein that in humans is encoded by the NLGN3 gene.
This gene encodes a member of the neuroligin family of neuronal cell surface proteins. Neuroligins may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. Mutations in this gene may be associated with autism spectrum disorders (ASDs). Multiple transcript variants encoding distinct isoforms have been identified for this gene, but their full length sequences have not been determined.
References
Further reading |
https://en.wikipedia.org/wiki/SSH1 | For the SSH-1 protocol, see Secure Shell#Version 1
Protein phosphatase Slingshot homolog 1 is an enzyme that in humans is encoded by the SSH1 gene.
The ADF (actin-depolymerizing factor)/cofilin family (see MIM 601442) is composed of stimulus-responsive mediators of actin dynamics. ADF/cofilin proteins are inactivated by kinases such as LIM domain kinase-1 (LIMK1; MIM 601329). The SSH family appears to play a role in actin dynamics by reactivating ADF/cofilin proteins in vivo (Niwa et al., 2002).[supplied by OMIM]
References
Further reading |
https://en.wikipedia.org/wiki/RNF216 | E3 ubiquitin-protein ligase RNF216 is an enzyme that in humans is encoded by the RNF216 gene.
This gene encodes a cytoplasmic protein which specifically colocalizes and interacts with the serine/threonine protein kinase, receptor-interacting protein (RIP). Zinc finger domains of the encoded protein are required for its interaction with RIP and for inhibition of TNF- and IL1-induced NF-kappa B activation pathways. The encoded protein may also function as an E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes and transfers it to substrates. Several alternatively spliced transcript variants have been described for this locus but the full-length natures of only some are known.
See also
RING finger domain
Interactions
RNF216 has been shown to interact with TLR9 and RIPK1.
References
Further reading
External links
RING finger proteins |
https://en.wikipedia.org/wiki/XAF1 | XIAP-associated factor 1 is a protein that in humans is encoded by the XAF1 gene.
Function
X-linked inhibitor of apoptosis (XIAP; MIM 300079) is a potent member of the IAP family. All members of this family possess baculoviral IAP (BIR) repeats, cysteine-rich domains of approximately 80 amino acids that bind and inhibit caspases (e.g., CASP3; MIM 600636). XIAP has 3 BIR domains and a C-terminal RING zinc finger that possesses E3 ubiquitin ligase (see MIM 601623) activity. XAF1 antagonizes the anticaspase activity of XIAP and may be important in mediating apoptosis resistance in cancer cells (Liston et al., 2001).[supplied by OMIM]
Interactions
XAF1 has been shown to interact with XIAP.
References
Further reading |
https://en.wikipedia.org/wiki/SYTL2 | Synaptotagmin-like 2, also known as SYTL2, is a human gene.
Function
The protein encoded by this gene is a synaptotagmin-like protein (SLP) that belongs to a C2 domain-containing protein family. The SLP homology domain (SHD) of this protein has been shown to specifically bind the GTP-bound form of Ras-related protein Rab-27A (RAB27A), which suggests a role in vesicle trafficking. Multiple alternatively spiced transcript variants encoding distinct isoforms have been observed.
Interactions
SYTL2 has been shown to interact with RAB27A.
References
Further reading |
https://en.wikipedia.org/wiki/IMP3 | U3 small nucleolar ribonucleoprotein protein IMP3 is a protein that in humans is encoded by the IMP3 gene.
Function
This gene encodes the human homolog of the yeast Imp3 protein. The protein localizes to the nucleoli and interacts with the U3 snoRNP complex. The protein contains an S4 domain.
References
Further reading
Sources
http://www.imp3.org/ |
https://en.wikipedia.org/wiki/KIF21A | Kinesin-like protein KIF21A is a protein that in humans is encoded by the KIF21A gene.
KIF21A belongs to a family of plus end-directed kinesin motor proteins. Neurons use kinesin and dynein microtubule-dependent motor proteins to transport essential cellular components along axonal and dendritic microtubules.
References
Further reading
External links
Engle Laboratory CFEOM page
GeneReviews/NCBI/NIH/UW entry on Congenital Fibrosis of the Extraocular Muscles
OMIM entries on Congenital Fibrosis of the Extraocular Muscles |
https://en.wikipedia.org/wiki/EXOC2 | Exocyst complex component 2 is a protein that in humans is encoded by the EXOC2 gene.
The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts.
References
Further reading |
https://en.wikipedia.org/wiki/NSFL1C | NSFL1 cofactor p47 is a protein that in humans is encoded by the NSFL1C gene.
N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Multiple transcript variants encoding several different isoforms have been found for this gene.
Interactions
NSFL1C has been shown to interact with Valosin-containing protein.
References
Further reading |
https://en.wikipedia.org/wiki/KMT2C | Lysine N-methyltransferase 2C (KMT2C) also known as myeloid/lymphoid or mixed-lineage leukemia protein 3 (MLL3) is an enzyme that in humans is encoded by the KMT2C gene.
Function
This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT-hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
Interactions
MLL3 has been shown to interact with NCOA6 and RBBP5.
Clinical significance
Mutations of the KMT2C gene cause Kleefstra syndrome-2, a neurodevelopmental disorder first described in 2012.
References
Further reading
External links
Transcription factors |
https://en.wikipedia.org/wiki/CACNB1 | Voltage-dependent L-type calcium channel subunit beta-1 is a protein that in humans is encoded by the CACNB1 gene.
The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified.
See also
Voltage-dependent calcium channel
References
Further reading
External links
Ion channels |
https://en.wikipedia.org/wiki/RAB5B | Ras-related protein Rab-5B is a protein that in humans is encoded by the RAB5B gene.
References
Further reading |
https://en.wikipedia.org/wiki/RBM4 | RNA-binding protein 4 is a protein that in humans is encoded by the RBM4 gene.
References
Further reading |
https://en.wikipedia.org/wiki/60S%20ribosomal%20protein%20L4 | 60S ribosomal protein L4 is a protein that in humans is encoded by the RPL4 gene.
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L4E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.
References
Further reading
Ribosomal proteins |
https://en.wikipedia.org/wiki/SCO1 | Protein SCO1 homolog, mitochondrial, also known as SCO1, cytochrome c oxidase assembly protein, is a protein that in humans is encoded by the SCO1 gene. SCO1 localizes predominantly to blood vessels, whereas SCO2 is barely detectable, as well as to tissues with high levels of oxidative phosphorylation. The expression of SCO2 is also much higher than that of SCO1 in muscle tissue, while SCO1 is expressed at higher levels in liver tissue than SCO2. Mutations in both SCO1 and SCO2 are associated with distinct clinical phenotypes as well as tissue-specific cytochrome c oxidase (complex IV) deficiency.
Structure
SCO1 is located on the p arm of chromosome 17 in position 13.1 and has 6 exons. The SCO1 gene produces a 33.8 kDa protein composed of 301 amino acids. The protein is a member of the SCO1/2 family. It contains 3 copper metal binding sites at positions 169, 173, and 260, a transit peptide, a 25 amino acid topological domain from positions 68–92, a 19 amino acid helical transmembrane domain from positions 93–111, and a 190 amino acid topological domain from positions 112–301 in the mitochondrial intermembrane. Additionally, SCO1 has been predicted to contain 10 beta-strands, 7 helixes, and 2 turns and is a single-pass membrane protein.
Function
Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and |
https://en.wikipedia.org/wiki/SEMA3F | Semaphorin-3F is a protein that in humans is encoded by the SEMA3F gene.
The semaphorins are a family of proteins that are involved in signaling. All the family members have a secretion signal, a 500-amino acid sema domain, and 16 conserved cysteine residues (Kolodkin et al., 1993). Sequence comparisons have grouped the secreted semaphorins into 3 general classes (classes 2, 3 and V), all of which also have an immunoglobulin domain. The semaphorin 3 family, consisting of human semaphorins 3A-G (SEMA3A; MIM 603961), chicken collapsin, and mouse semaphorins 3A-G, all have a basic domain at the C terminus. Chicken collapsin contributes to path finding by axons during development by inhibiting extension of growth cones (Luo et al., 1993) through an interaction with a collapsin response mediator protein of relative molecular mass 62K (CRMP62) (Goshima et al., 1995), a putative homolog of an axonal guidance associated UNC33 gene product (MIM 601168). SEMA3F is a secreted member of the semaphorin III family.[supplied by OMIM]
References
Further reading |
https://en.wikipedia.org/wiki/ST8SIA1 | Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase is an enzyme that in humans is encoded by the ST8SIA1 gene.
Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by ST8SIA1 is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29.
In melanocytic cells, ST8SIA1 gene expression may be regulated by MITF.
References
Further reading |
https://en.wikipedia.org/wiki/SMTN | Smoothelin is a protein that in humans is encoded by the SMTN gene.
This gene encodes a structural protein that is found exclusively in contractile smooth muscle cells. It associates with stress fibers and constitutes part of the cytoskeleton. This gene is localized to chromosome 22q12.3, distal to the TUPLE1 locus and outside the DiGeorge syndrome deletion. Alternative splicing of this gene results in three transcript variants.
References
Further reading |
https://en.wikipedia.org/wiki/Sodium-%20and%20chloride-dependent%20creatine%20transporter%201 | Sodium- and chloride-dependent creatine transporter 1 is a protein that in humans is encoded by the SLC6A8 gene.
Clinical significance
Mutations of the SLC6A8 gene can cause cerebral creatine deficiency syndrome 1.
See also
Sodium:neurotransmitter symporter
Solute carrier family
References
Further reading
External links
GeneReviews/NCBI/NIH/UW entry on Creatine Deficiency Syndromes
Solute carrier family |
https://en.wikipedia.org/wiki/SLC22A3 | Solute carrier family 22 member 3 (SLC22A3) also known as the organic cation transporter 3 (OCT3) or extraneuronal monoamine transporter (EMT) is a protein that in humans is encoded by the SLC22A3 gene.
Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein.
Distribution
OCT3 is widely distributed in brain tissue. It is not yet completely clear whether its location is primarily neuronal or glial. Areas of the brain in which it has been reported include: hippocampus, retrosplenial cortex, visual cortex, hypothalamus, amygdala, nucleus accumbens, thalamus, raphe nucleus, subiculum, superior and inferior colliculi, and islands of Calleja.
Pharmacology
Organic cation transporter 3 is a polyspecific transporter whose transport is independent of sodium. Known substrates for transport include: histamine, serotonin, norepinephrine, dopamine and MPP+. Capacity for transport and affinity for these substrates may vary between rat and human isoforms however.
Transport activity of OCT3 is inhibited by recreational and pharmaceutical drugs, including MDMA, phencyclidine (PCP), MK-801, amphetamine, methamphetamine and coca |
https://en.wikipedia.org/wiki/SNRPB2 | U2 small nuclear ribonucleoprotein B is a protein that in humans is encoded by the SNRPB2 gene.
The protein encoded by this gene associates with stem loop IV of U2 small nuclear ribonucleoprotein (U2 snRNP) in the presence of snRNP-A'. The encoded protein may play a role in pre-mRNA splicing. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding the same protein have been found for this gene.
References
Further reading |
https://en.wikipedia.org/wiki/SNRPG | Small nuclear ribonucleoprotein G is a protein that in humans is encoded by the SNRPG gene.
Interactions
SNRPG has been shown to interact with DDX20 and TACC1.
References
Further reading
External links |
https://en.wikipedia.org/wiki/Sp4%20transcription%20factor | Transcription factor Sp4 is a protein that in humans is encoded by the SP4 gene.
Interactions
Sp4 transcription factor has been shown to interact with E2F1.
References
Further reading
External links
Transcription factors |
https://en.wikipedia.org/wiki/TBCE | Tubulin-specific chaperone E is a protein that in humans is encoded by the TBCE gene.
Cofactor E is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. Two transcript variants encoding the same protein have been found for this gene.
The TBCE gene is either deleted or mutated in Sanjad-Sakati Syndrome
References
Further reading |
https://en.wikipedia.org/wiki/TRD%20%28gene%29 | T cell receptor delta locus (symbol TRD), also known as TCRD or TRD@, is a protein that in humans is encoded by the TRD gene. It contributes the delta (δ) chain to the larger TCR protein (T-cell receptor).
References
Further reading
Human genes |
https://en.wikipedia.org/wiki/Tropomodulin%201 | Tropomodulin-1 is a protein that in humans is encoded by the TMOD1 gene.
References
Further reading
Tropomodulin |
https://en.wikipedia.org/wiki/TMPRSS2 | Transmembrane protease, serine 2 is an enzyme that in humans is encoded by the TMPRSS2 gene. It belongs to the TMPRSS family of proteins, whose members are transmembrane proteins which have a serine protease activity. The TMPRSS2 protein is found in high concentration in the cell membranes of epithelial cells of the lung and of the prostate, but also in the heart, liver and gastrointestinal tract.
Mutations of the TMPRSS2 gene are often involved in prostate cancer. Several viruses, including SARS-CoV-2, use the protease activity of the TMPRSS2 protein in the process of entering cells.
Function
The TMPRSS2 gene encodes a protein that belongs to the serine protease family. The encoded protein contains a type II transmembrane domain, a low density lipoprotein receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Serine proteases are known to be involved in many physiological and pathological processes. This gene is up-regulated by androgenic hormones in prostate cancer cells and down-regulated in androgen-independent prostate cancer tissue. The protease domain of this protein is thought to be cleaved and secreted into cell media after autocleavage. TMPRSS2 participates in proteolytic cascades necessary for normal physiological function of the prostate. Gene knockout mice lacking TMPRSS2 show no abnormalities.
Structure
As a type II transmembrane protease, TMPRSS2 consists of an intracellular N-terminal domain, a transmembrane domain, a s |
https://en.wikipedia.org/wiki/TOP3A | DNA topoisomerase 3-alpha is an enzyme that in humans is encoded by the TOP3A gene.
Function
This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells.
Meiosis
Recombination during meiosis is often initiated by a DNA double-strand break (DSB). During recombination, sections of DNA at the 5' ends of the break are cut away in a process called resection. In the strand invasion step that follows, an overhanging 3' end of the broken DNA molecule then "invades" the DNA of an homologous chromosome that is not broken forming a displacement loop (D-loop). After strand invasion, the further sequence of events may follow either of two main pathways leading to a crossover (CO) or a non-crossover (NCO) recombinant (see Genetic recombination and see Figure). The pathway leading to a NCO is referred to as Synthesis-dependent strand annealing (SDSA).
In the plant Arabidopsis thaliana, multiple mechanisms limit meiotic COs. During meiosis TOP3A and RECQ4A/B helicase antagonize formation of COs in parallel to FANCM helicase. Sequela-Arnaud et al. suggested that CO numbers are restricted because of the long- |
https://en.wikipedia.org/wiki/TRIO%20%28gene%29 | Triple functional domain protein is a protein that in humans is encoded by the TRIO gene.
Interactions
TRIO (gene) has been shown to interact with Filamin and RHOA.
References
Further reading
External links
EC 2.7.11 |
https://en.wikipedia.org/wiki/TTK%20%28gene%29 | Dual specificity protein kinase TTK also known as Mps1 is an enzyme that in humans is encoded by the TTK gene.
References
Further reading
EC 2.7.11 |
https://en.wikipedia.org/wiki/Alpha-tocopherol%20transfer%20protein | Alpha-tocopherol transfer protein (α-TTP) is a protein that in humans is encoded by the TTPA gene.
See also
Familial isolated vitamin E deficiency
References
Further reading
External links
GeneReviews/NCBI/NIH/UW entry on Ataxia with Vitamin E Deficiency
OMIM entries on Ataxia with Vitamin E Deficiency |
https://en.wikipedia.org/wiki/BAT2 | Large proline-rich protein BAT2 is a protein that in humans is encoded by the BAT2 gene.
Function
A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. This gene has microsatellite repeats which are associated with the age-at-onset of insulin-dependent diabetes mellitus (IDDM) and possibly thought to be involved with the inflammatory process of pancreatic beta-cell destruction during the development of IDDM. This gene is also a candidate gene for the development of rheumatoid arthritis. There are two alternatively spliced transcripts encoding different isoforms described for this gene.
Interactions
BAT2 has been shown to interact with:
C1QBP,
EIF3S6,
HNRNPA1,
IFT88,
IMMT, and
UBAP2L.
References
Further reading
External links |
https://en.wikipedia.org/wiki/LST1 | Leukocyte-specific transcript 1 protein is a protein that in humans is encoded by the LST1 gene.
References
Further reading |
https://en.wikipedia.org/wiki/ERVK6 | HERV-K_19q12 provirus ancestral Pol protein is a protein that in humans is encoded by the ERVK6 gene.
References
Further reading
Genes
Human proteins |
https://en.wikipedia.org/wiki/VTCN1 | V-set domain-containing T-cell activation inhibitor 1 is a protein that in humans is encoded by the VTCN1 gene.
Function
B7H4 belongs to the B7 family (see CD80; MIM 112203) of costimulatory proteins. These proteins are expressed on the surface of antigen-presenting cells and interact with ligands (e.g., CD28; MIM 186760) on T lymphocytes.[supplied by OMIM]
B7-H4 is an immune checkpoint molecule.
See also
B7 (protein)
References
Further reading |
https://en.wikipedia.org/wiki/CCNG1 | Cyclin-G1 is a protein that in humans is encoded by the CCNG1 gene.
Function
The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The protein encoded by this gene is a member of the cyclin family and contains the cyclin box. The encoded protein lacks the protein destabilizing (PEST) sequence that is present in other family members. Transcriptional activation of this gene can be induced by tumor protein p53. Two transcript variants encoding the same protein have been identified for this gene.
Interactions
CCNG1 has been shown to interact with:
Mdm2,
P16,
P53, and
PPP2R4.
References
External links
Further reading |
https://en.wikipedia.org/wiki/Cyclin%20T2 | Cyclin-T2 is a protein that in humans is encoded by the CCNT2 gene.
Function
The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin and its kinase partner CDK9 were found to be subunits of the transcription elongation factor p-TEFb. The p-TEFb complex containing this cyclin was reported to interact with, and act as a negative regulator of human immunodeficiency virus type 1 (HIV-1) Tat protein. Two alternatively spliced transcript variants, which encode distinct isoforms, have been described.
Interactions
Cyclin T2 has been shown to interact with CDK9 and Retinoblastoma protein.
References
Further reading
External links
Cell cycle regulators |
https://en.wikipedia.org/wiki/KAT6A | K(lysine) acetyltransferase 6A (KAT6A), is an enzyme that, in humans, is encoded by the KAT6A gene. This gene is located on human chromosome 8, band 8p11.21.
Protein function
The KAT6A protein contains two nuclear localization domains, a C2HC3 zinc finger and an acetyltransferase domain. This structure suggests that KAT6A functions as a chromatin-bound acetyltransferase. KAT6A is important for the proper development of hematopoietic stem cells.
Arboleda-Tham syndrome
Arboleda-Tham syndrome (ARTHS), also referred to as KAT6A Syndrome (Arboleda-Tham Syndrome), is a rare autosomal dominant developmental disorder, caused by various missense, nonsense, and frameshift mutations in the KAT6A gene. The main characteristics of this syndrome are developmental delay, impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications.
References
Further reading |
https://en.wikipedia.org/wiki/KDM5D | Lysine-specific demethylase 5D is an enzyme that in humans is encoded by the KDM5D gene. KDM5D belongs to the alpha-ketoglutarate-dependent hydroxylases superfamily.
This gene encodes a protein containing zinc finger domains. A short peptide derived from this protein is a minor histocompatibility antigen which can lead to graft rejection of male donor cells in a female recipient.
References
Further reading
External links
Transcription factors
Human 2OG oxygenases
EC 1.14.11 |
https://en.wikipedia.org/wiki/HIST1H2BL | Histone H2B type 1-L is a protein that in humans is encoded by the HIST1H2BL gene.
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3.
References
Further reading |
https://en.wikipedia.org/wiki/HIST1H2BN | Histone H2B type 1-N is a protein that in humans is encoded by the HIST1H2BN gene.
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3.
References
Further reading |
https://en.wikipedia.org/wiki/HIST1H2BO | Histone H2B type 1-O is a protein that in humans is encoded by the HIST1H2BO gene.
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes.
The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3.
References
Further reading |
https://en.wikipedia.org/wiki/Histone%20H3.1 | Histone H3.1 is a protein in humans that is encoded by the H3C1 gene.
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3.
References
Further reading |
https://en.wikipedia.org/wiki/UXT | Protein UXT (Ubiquitously eXpressed Transcript protein) also known as androgen receptor trapped clone 27 (ART-27) protein is a protein that in humans is encoded by the UXT gene.
Function
UXT interacts with the N-terminus of the androgen receptor and plays a role in facilitating receptor-induced transcriptional activation. It is also likely to be involved in tumorigenesis as it is abundantly expressed in tumor tissues. This gene is part of a gene cluster on chromosome Xp11.23. Alternative splicing results in 2 transcript variants encoding different isoforms.
Transcript variant 2 is 575 bp in length, and it codes for a polypeptide sequence that is 157 amino acids long (~ 18 kDa). It has been shown to interact with two AR N-terminal activation domains that are both required for full transcriptional activation. In addition, it is largely localized to the nucleus and is highly expressed in human prostate epithelial cells as well as breast tissues. ART-27 likely serves to link AR to a larger transcription factor complex as evidenced by its association with a number of proteins including RNA pol II subunit 5, a pair of prefoldin β-subunits, and TATA-binding protein-interacting proteins. It also shows homology to prefoldins which are small molecular weight proteins that assemble into molecular chaperone complexes to affect protein folding.
ART-27 is shown to be subject to both cell type and developmental regulation in humans. Its expression is associated with an abundance of d |
https://en.wikipedia.org/wiki/FCN3 | Ficolin-3 is a protein that in humans is encoded by the FCN3 gene. Ficolin-3 was initially identified as H-ficolin, in which H is after the Hakata antigen that was previously found as an autoantigen in patients who lived in the city of Hakata.
Ficolins are a group of proteins which consist of a collagen-like domain and a fibrinogen-like domain. In human serum, there are two types of ficolins, both of which have lectin activity. The protein encoded by this gene is a thermolabile beta-2-macroglycoprotein found in all human serum and is a member of the ficolin/opsonin p35 lectin family. The protein, which was initially identified based on its reactivity with sera from patients with systemic lupus erythematosus, has been shown to have a calcium-independent lectin activity. The protein can activate the complement pathway in association with MASPs and sMAP, thereby aiding in host defense through the activation of the lectin pathway. Alternative splicing occurs at this locus and two variants, each encoding a distinct isoform, have been identified.
References
Further reading
Ficolins |
https://en.wikipedia.org/wiki/PDXK | Pyridoxal kinase is an enzyme that in humans is encoded by the PDXK gene.
The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.
References
Further reading |
https://en.wikipedia.org/wiki/Vesicle-associated%20membrane%20protein%208 | Vesicle-associated membrane protein 8 is a protein that in humans is encoded by the VAMP8 gene.
Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. It is associated with the perinuclear vesicular structures of the early endocytic compartment. It has been found that VAMP8 interacts specifically with the soluble NSF-attachment protein (alpha-SNAP), most likely through an VAMP8-containing SNARE complex. Phosphorylation of VAMP8 inside the conserved SNARE-domain can suppress vesicle fusion.
Interactions
Vesicle-associated membrane protein 8 has been shown to interact with STX4, SNAP23, STX1A, STX8 and STX7.
References
Further reading |
https://en.wikipedia.org/wiki/MPDZ | Multiple PDZ domain protein is a protein that in humans is encoded by the MPDZ gene.
Interactions
MPDZ has been shown to interact with:
5-HT2C receptor,
CD117, and
PLEKHA1.
References
Further reading |
https://en.wikipedia.org/wiki/FGF18 | Fibroblast growth factor 18 (FGF18) is a protein that is encoded by the Fgf18 gene in humans. The protein was first discovered in 1998, when two newly-identified murine genes Fgf17 and Fgf18 were described and confirmed as being closely related by sequence homology to Fgf8. The three proteins were eventually grouped into the FGF8 subfamily, which contains several of the endocrine FGF superfamily members FGF8, FGF17, and FGF18. Subsequent studies identified FGF18's role in promoting chondrogenesis, and an apparent specific activity for the generation of the hyaline cartilage in articular joints.
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, and tissue repair. It has been shown in vitro that this protein is able to induce neurite outgrowth in PC12 cells.
Function
FGF18 signals through fibroblast growth factor receptor (FGFR) family, preferentially binding FGFR 3c (followed by 4△, 2c, 1c, and finally 3b), signaling via FGFR3 promotes generation of cartilage (chondrogenesis). FGF18 and has been shown to cause thickening of cartilage in a murine model of osteoarthritis, and the recombinant version of it (sprifermin) is in a clinical trial as a potential treatment for osteoarthritis (OA). Recent findings from a placebo-controlled randomized clinical |
https://en.wikipedia.org/wiki/PRPF4B | Serine/threonine-protein kinase PRP4 homolog is an enzyme that in humans is encoded by the PRPF4B gene.
Pre-mRNA splicing occurs in two sequential transesterification steps, and the protein encoded by this gene is thought to be involved in pre-mRNA splicing and in signal transduction. This protein belongs to a kinase family that includes serine/arginine-rich protein-specific kinases and cyclin-dependent kinases (CDKs). This protein is regarded as a CDK-like kinase (Clk) with homology to mitogen-activated protein kinases (MAPKs).
Interactions
PRPF4B has been shown to interact with Pinin.
References
Further reading |
https://en.wikipedia.org/wiki/BAZ1B | Tyrosine-protein kinase, or Bromodomain adjacent to zinc finger domain, 1B (BAZ1B) is an enzyme that in humans is encoded by the BAZ1B gene.
Function
This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23.
BAZ1B has been found to affect the activity of 448 other genes and is very important in the development of the neural crest and the face. Research suggests that changes in BAZ1B may have been involved in "self-domesticating" humans.
Animal models
Model organisms have been used in the study of BAZ1B function. A conditional knockout mouse line, called Baz1btm2a(KOMP)Wtsi, was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.
Six significant phenotypes were reported:
Fewer homozygous mutant mice survived to weaning than expected.
Mutant mice had decreased body weights compared to wildtype control mice.
Mutant mice showed increased activity, VO2 and energy expenditure, determined by indirect calorimetry.
Radiography found teeth abnor |
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