external_gene_name stringlengths 2 10 | cl_name stringclasses 332
values | class int64 0 1 | gene_summary stringlengths 76 2.03k | wikipedia stringlengths 27 91k | wikicrow stringlengths 1.89k 17.1k |
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UTP6 | sensory neuron | 0 | Predicted to enable snoRNA binding activity. Predicted to be involved in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] | U3 small nucleolar RNA-associated protein 6 homolog is a protein that in humans is encoded by the UTP6 gene. See also References == Further reading == | Info ==== Gene Position (hg19) ==================== Related Genes ============= Overview ======== UTP6 is a gene that encodes the UTP6 small subunit processome component, a protein integral to the biogenesis of ribosomes in eukaryotic cells. The UTP6 protein is a part of the UTPB subcomplex within the small subun... |
UQCR11 | hepatic stellate cell | 0 | This gene encodes the smallest known component of the ubiquinol-cytochrome c reductase complex, which forms part of the mitochondrial respiratory chain. The encoded protein may function as a binding factor for the iron-sulfur protein in this complex. [provided by RefSeq, Oct 2009] | UQCR11 (ubiquinol-cytochrome c reductase, complex III sub-unit XI) is a protein that in humans is encoded by the UQCR11 gene. UQCR11 is the smallest known component of Complex III in the mitochondrial respiratory chain. Structure The UQCR11 gene, located on the p arm of chromosome 19 in position 13.3, is made up of 3 ... | Info ==== Related Genes ============= Overview ======== UQCR11 is a gene that encodes the ubiquinol-cytochrome c reductase, complex III subunit XI, a protein integral to the mitochondrial electron transport chain. This protein is a component of complex III, also known as the cytochrome bc1 complex, which plays a pi... |
AASDHPPT | kidney cortex artery cell | 0 | The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has bee... | L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase is an enzyme that in humans is encoded by the AASDHPPT gene. The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of... | Info ==== Gene Position (hg19) ==================== Related Genes ============= Overview ======== The AASDHPPT gene encodes the enzyme aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase, which plays a critical role in mitochondrial function and metabolism. This enzyme is categorized as a phos... |
FBLIM1 | epithelial cell | 1 | This gene encodes a protein with an N-terminal filamin-binding domain, a central proline-rich domain, and, multiple C-terminal LIM domains. This protein localizes at cell junctions and may link cell adhesion structures to the actin cytoskeleton. This protein may be involved in the assembly and stabilization of actin-fi... | Filamin-binding LIM protein 1 is a protein that in humans is encoded by the FBLIM1 gene. This gene encodes a protein with an N-terminal filamin-binding domain, a central proline-rich domain, and, multiple C-terminal LIM domains. This protein localizes at cell junctions and may link cell adhesion structures to the actin... | Info ==== Gene Position (hg19) ==================== Related Genes ============= Overview ======== FBLIM1 is a gene that encodes the filamin-binding LIM protein 1 (FBLP1), also known as migfilin, which is a crucial component in cytoskeletal organization and cellular adhesion processes. The protein is characterized... |
RAB10 | dendritic cell, human | 1 | RAB10 belongs to the RAS (see HRAS; MIM 190020) superfamily of small GTPases. RAB proteins localize to exocytic and endocytic compartments and regulate intracellular vesicle trafficking (Bao et al., 1998 [PubMed 9918381]).[supplied by OMIM, Mar 2009] | Ras-related protein Rab-10 is a protein that in humans is encoded by the RAB10 gene. Interactions RAB10 has been shown to interact with AP1S1. References == Further reading == | Info ==== Gene Position (hg19) ==================== Related Genes ============= Overview ======== RAB10 is a gene that encodes a member of the Ras superfamily of small GTPases, specifically the RAB10 protein. This protein functions as a molecular switch, cycling between inactive GDP-bound and active GTP-bound sta... |
ATP6V0B | ionocyte | 1 | This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle... | V-type proton ATPase 21 kDa proteolipid subunit is an enzyme that in humans is encoded by the ATP6V0B 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 s... | Info ==== Gene Position (hg19) ==================== Related Genes ============= Overview ======== ATP6V0B is a gene that encodes the ATPase H+ transporting V0 subunit b, a critical component of the vacuolar ATPase (V-ATPase) complex. This protein is categorized as a transmembrane protein and plays a pivotal role ... |
CD3E | plasmacytoid dendritic cell | 0 | The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-t... | CD3e molecule, epsilon also known as CD3E is a polypeptide which in humans is encoded by the CD3E gene which resides on chromosome 11. Function The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodime... | Info ==== Gene Position (hg19) ==================== Related Genes ============= Overview ======== The CD3E gene encodes the CD3 epsilon (ε) subunit, a critical component of the T-cell receptor (TCR) complex, which is essential for the immune response. This gene is located on chromosome 11 and plays a pivotal role... |
MSMB | goblet cell | 1 | The protein encoded by this gene is a member of the immunoglobulin binding factor family. It is synthesized by the epithelial cells of the prostate gland and secreted into the seminal plasma. This protein has inhibin-like activity. It may have a role as an autocrine paracrine factor in uterine, breast and other female ... | Beta-microseminoprotein is a protein that in humans is encoded by the MSMB gene. For historical reasons, the scientific literature may also refer to this protein as Prostate secretory protein 94 (PSP94), microseminoprotein (MSP), microseminoprotein-beta (MSMB), beta-inhibitin, prostatic inhibin peptide (PIP), and inhib... | Info ==== Related Genes ============= Overview ======== The MSMB gene encodes microseminoprotein beta, a small, cysteine-rich protein primarily secreted by the prostate gland and found abundantly in seminal plasma. This protein, also known as PSP94 or β-inhibin, is a member of the immunoglobulin binding factor fami... |
PPP1R15A | monocyte | 1 | This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptos... | Protein phosphatase 1 regulatory subunit 15A, also known as growth arrest and DNA damage-inducible protein (GADD34), is a protein that in humans is encoded by the PPP1R15A gene. The Gadd34/MyD116 gene was originally discovered as a member in a set of gadd and MyD mammalian genes encoding acidic proteins that synergist... | Info ==== Gene Position (hg19) ==================== Related Genes ============= Overview ======== PPP1R15A is a gene that encodes the protein phosphatase 1 regulatory subunit 15A, also known as GADD34. This protein is a regulatory subunit of protein phosphatase 1 (PP1) and plays a pivotal role in cellular stress ... |
GP2 | GABAergic neuron | 0 | This gene encodes an integral membrane protein that is secreted from intracellular zymogen granules and associates with the plasma membrane via glycosylphosphatidylinositol (GPI) linkage. The encoded protein binds pathogens such as enterobacteria, thereby playing an important role in the innate immune response. The C-t... | GP2, GP.2, GP-2 or variant, may refer to: British GP2, a motorcycle race classification within the British Supersport Championship GP2 Series, an open wheel motor racing series that was succeeded by the FIA Formula 2 Championship GP2 Asia Series, a similar series that ran in Asia from 2008 to 2011, before merging with... | Info ==== Gene Position (hg19) ==================== Related Genes ============= Overview ======== GP2 is a gene that encodes glycoprotein 2, a significant membrane protein primarily expressed in pancreatic acinar cells. Glycoprotein 2 is categorized as a glycoprotein and is integral to the formation and function ... |
NDUFA2 | myeloid cell | 1 | The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox proce... | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 is a protein that in humans is encoded by the NDUFA2 gene. The NDUFA2 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Mutat... | Info ==== Gene Position (hg19) ==================== Related Genes ============= Overview ======== NDUFA2 is a gene that encodes the protein NADH:ubiquinone oxidoreductase subunit A2, a crucial component of Complex I in the mitochondrial electron transport chain. This protein plays a significant role in cellular r... |
AP2A1 | dendritic cell, human | 1 | This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic f... | AP-2 complex subunit alpha-1 is a protein that in humans is encoded by the AP2A1 gene. This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP2 adaptors) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin ... | Info ==== Gene Position (hg19) ==================== Related Genes ============= Overview ======== AP2A1 is a gene that encodes the adaptor-related protein complex 2 subunit alpha 1, a critical component of the adaptor protein complex 2 (AP-2). This protein is integral to clathrin-mediated endocytosis, a cellular ... |
CHD3 | marginal zone B cell of spleen | 0 | This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in... | Chromodomain-helicase-DNA-binding protein 3 is an enzyme that in humans is encoded by the CHD3 gene. Function This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is on... | Info ==== Gene Position (hg19) ==================== Related Genes ============= Overview ======== The CHD3 gene encodes the chromodomain helicase DNA binding protein 3, a member of the chromodomain helicase DNA-binding (CHD) family, which plays a pivotal role in chromatin remodeling and transcriptional regulation... |
SPACA3 | spermatogonium | 1 | The protein encoded by this gene is a sperm surface protein that may be involved in adhesion to the egg prior to fertilization. While the encoded protein has significant similarity to lysozyme at the amino acid level, it has no detectable bacteriocidal activity. Several transcript variants encoding different isoforms h... | Sperm acrosome membrane-associated protein 3 is a protein that in humans is encoded by the SPACA3 gene. It may be involved in adhesion to the egg before the egg is fertilized. See also Acrosome References == Further reading == | Info ==== Gene Position (hg19) ==================== Related Genes ============= Overview ======== The SPACA3 gene encodes the sperm acrosome associated 3 protein, commonly referred to as SPRASA, which is a lysozyme-like protein involved in the fertilization process. This protein is primarily localized in the acro... |
ALDH1A1 | hematopoietic stem cell | 1 | The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct ge... | Aldehyde dehydrogenase 1 family, member A1, also known as ALDH1A1 or retinaldehyde dehydrogenase 1 (RALDH1), is an enzyme that is encoded by the ALDH1A1 gene. Function This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of a... | Info ==== Gene Position (hg19) ==================== Related Genes ============= Overview ======== ALDH1A1 is a gene that encodes the enzyme aldehyde dehydrogenase 1 family member A1, a member of the aldehyde dehydrogenase superfamily. This enzyme is primarily involved in the oxidation of aldehydes to carboxylic a... |
CCL20 | central memory CD8-positive, alpha-beta T cell | 0 | This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene displays chemotactic activity for lymp... | Chemokine (C-C motif) ligand 20 (CCL20) or liver activation regulated chemokine (LARC) or Macrophage Inflammatory Protein-3 (MIP3A) is a small cytokine belonging to the CC chemokine family. It is strongly chemotactic for lymphocytes and weakly attracts neutrophils. CCL20 is implicated in the formation and function of... | Info ==== Gene Position (hg19) ==================== Related Genes ============= Overview ======== CCL20 is a gene that encodes the protein C-C motif chemokine ligand 20, also known as macrophage inflammatory protein-3α (MIP-3α). This chemokine is a member of the chemokine family, which plays a pivotal role in the... |
MDH1 | IgA memory B cell | 0 | This gene encodes an enzyme that catalyzes the NAD/NADH-dependent, reversible oxidation of malate to oxaloacetate in many metabolic pathways, including the citric acid cycle. Two main isozymes are known to exist in eukaryotic cells: one is found in the mitochondrial matrix and the other in the cytoplasm. This gene enco... | Malate dehydrogenase, cytoplasmic also known as malate dehydrogenase 1 is an enzyme that in humans is encoded by the MDH1 gene. Function Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene i... | Info ==== Gene Position (hg19) ==================== Related Genes ============= Overview ======== MDH1 is a gene that encodes the enzyme malate dehydrogenase 1, a cytosolic protein that plays a pivotal role in cellular energy metabolism. As a key component of the citric acid cycle, malate dehydrogenase 1 catalyze... |
MAN2A1 | ionocyte | 1 | This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythemato... | Alpha-mannosidase 2 is an enzyme that in humans is encoded by the MAN2A1 gene. Function This gene encodes a protein which is a member of family 38 of the glycosyl hydrolases. The protein is located in the Golgi apparatus and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-linked glycosy... | Info ==== Gene Position (hg19) ==================== Related Genes ============= Overview ======== The MAN2A1 gene encodes the enzyme mannosidase alpha class 2A member 1, commonly referred to as Golgi α-mannosidase II. This enzyme is a type II transmembrane protein that plays a pivotal role in the maturation of N-... |
CD5 | fetal cardiomyocyte | 0 | This gene encodes a member of the scavenger receptor cysteine-rich (SRCR) superfamily. Members of this family are secreted or membrane-anchored proteins mainly found in cells associated with the immune system. This protein is a type-I transmembrane glycoprotein found on the surface of thymocytes, T lymphocytes and a su... | CD5 or CD-5 may be: CD5 (protein), cluster of differentiation 5 molecule, type I transmembrane protein Compact disc, 5-inch CD, usually music CD CD single, a music single on a 5-inch CD CD-5 drill site at Alpine, Alaska oil field | Info ==== Gene Position (hg19) ==================== Related Genes ============= Overview ======== CD5 is a gene that encodes the CD5 protein, a type I transmembrane glycoprotein belonging to the scavenger receptor cysteine-rich (SRCR) superfamily. The CD5 protein is primarily expressed on the surface of T cells a... |
PLAUR | ciliated cell | 1 | This gene encodes the receptor for urokinase plasminogen activator and, given its role in localizing and promoting plasmin formation, likely influences many normal and pathological processes related to cell-surface plasminogen activation and localized degradation of the extracellular matrix. It binds both the proprotei... | The Urokinase receptor, also known as urokinase plasminogen activator surface receptor (uPAR) or CD87 (Cluster of Differentiation 87), is a protein encoded in humans by the PLAUR gene. It is a multidomain glycoprotein tethered to the cell membrane with a glycosylphosphotidylinositol (GPI) anchor. uPAR was originally id... | Info ==== Gene Position (hg19) ==================== Related Genes ============= Overview ======== The PLAUR gene encodes the urokinase plasminogen activator receptor (uPAR), a critical cell surface receptor involved in various physiological and pathological processes. As a glycoprotein, uPAR is anchored to the ce... |
RC3H1 | natural killer cell | 1 | This gene encodes a protein containing RING-type and C3H1-type zinc finger motifs. The encoded protein recognizes and binds to a constitutive decay element (CDE) in the 3' UTR of mRNAs, leading to mRNA deadenylation and degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul ... | Ring finger and CCCH-type domains 1, also known as Roquin-1, is a protein that in humans is encoded by the RC3H1 gene. Function This gene encodes a protein containing RING-type and C3H1-type zinc finger motifs. The encoded protein recognizes and binds to a constitutive decay element (CDE) in the 3' UTR of mRNAs, leadi... | Info ==== Gene Position (hg19) ==================== Related Genes ============= Overview ======== RC3H1 is a gene that encodes the Roquin-1 protein, a multifunctional regulator involved in post-transcriptional control of gene expression, particularly within the immune system. Roquin-1 is characterized by its dist... |
RAB33B | natural killer cell | 1 | This gene encodes a small GTP-binding protein of the Rab GTPase family, whose members function in vesicle transport during protein secretion and endocytosis. Rab GTPases are active, membrane-associated proteins that recruit effector proteins in the GTP-bound state and inactive cytosolic proteins when in a GDP-bound sta... | Ras-related protein Rab-33B is a protein that in humans is encoded by the RAB33B gene. Mutations in this gene have been associated to cases of Dyggve-Melchior-Clausen syndrome. References == Further reading == | Info ==== Gene Position (hg19) ==================== Related Genes ============= Overview ======== RAB33B is a gene that encodes a small GTPase protein, RAB33B, which is a member of the RAS oncogene family. This protein is primarily involved in intracellular vesicle trafficking and plays a crucial role in the auto... |
VPS13B | trophoblast cell | 0 | This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Coh... | Intermembrane lipid transfer protein VPS13B, also known as vacuolar protein sorting-associated 13B, and Cohen syndrome protein 1 is a protein that in humans is encoded by the VPS13B gene. It is a giant protein associated with the Golgi apparatus that is believed to be involved in post-Golgi apparatus sorting and traffi... | Info ==== Gene Position (hg19) ==================== Related Genes ============= Overview ======== VPS13B is a gene located on chromosome 8q22.2 that encodes the vacuolar protein sorting 13 homolog B, a large and complex protein involved in intracellular trafficking and membrane dynamics. This protein is primarily... |
HSPA9 | natural killer cell | 1 | This gene encodes a member of the heat shock protein 70 gene family. The encoded protein is primarily localized to the mitochondria but is also found in the endoplasmic reticulum, plasma membrane and cytoplasmic vesicles. This protein is a heat-shock cognate protein. This protein plays a role in cell proliferation, str... | Mitochondrial 70kDa heat shock protein (mtHsp70), also known as mortalin, is a protein that in humans is encoded by the HSPA9 gene. Function The product encoded by this gene belongs to the heat shock protein 70 family which contains both heat-inducible and constitutively expressed members. The latter are called heat-s... | Info ==== Gene Position (hg19) ==================== Related Genes ============= Overview ======== HSPA9 is a gene that encodes the protein known as mortalin, a member of the heat shock protein 70 (Hsp70) family, which functions as a molecular chaperone. Mortalin is primarily localized in the mitochondria but is a... |
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