psui3905/ncbi_genes_summary huggingface dataset:
HSPG2, Official Symbol HSPG2provided by HGNC Official Full Name heparan sulfate proteoglycan 2provided by HGNC Primary source HGNC:HGNC:5273 See related Ensembl:ENSG00000142798 MIM:142461; AllianceGenome:HGNC:5273 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PLC; SJA; SJS; HSPG; SJS1; PRCAN Summary This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cross-links many extracellular matrix components and cell-surface molecules. It has been shown that this protein interacts with laminin, prolargin, collagen type IV, FGFBP1, FBLN2, FGF7 and transthyretin, etc., and it plays essential roles in multiple biological activities. Perlecan is a key component of the vascular extracellular matrix, where it helps to maintain the endothelial barrier function. It is a potent inhibitor of smooth muscle cell proliferation and is thus thought to help maintain vascular homeostasis. It can also promote growth factor (e.g., FGF2) activity and thus stimulate endothelial growth and re-generation. It is a major component of basement membranes, where it is involved in the stabilization of other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. Mutations in this gene cause Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia, and tardive dyskinesia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] Expression Broad expression in fat (RPKM 67.9), gall bladder (RPKM 21.5) and 21 other tissues See more Orthologs mouse all
HSPH1, Official Symbol HSPH1provided by HGNC Official Full Name heat shock protein family H (Hsp110) member 1provided by HGNC Primary source HGNC:HGNC:16969 See related Ensembl:ENSG00000120694 MIM:610703; AllianceGenome:HGNC:16969 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HSP105; HSP105A; HSP105B; NY-CO-25 Summary This gene encodes a member of the heat shock protein 70 family of proteins. The encoded protein functions as a nucleotide exchange factor for the molecular chaperone heat shock cognate 71 kDa protein (Hsc70). In addition, this protein plays a distinct but related role as a holdase that inhibits the aggregation of misfolded proteins, including the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Elevated expression of this protein has been observed in numerous human cancers. [provided by RefSeq, Mar 2017] Expression Broad expression in brain (RPKM 32.5), testis (RPKM 30.3) and 25 other tissues See more Orthologs mouse all
HTATIP2, Official Symbol HTATIP2provided by HGNC Official Full Name HIV-1 Tat interactive protein 2provided by HGNC Primary source HGNC:HGNC:16637 See related Ensembl:ENSG00000109854 MIM:605628; AllianceGenome:HGNC:16637 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CC3; TIP30; SDR44U1 Summary Enables protein serine/threonine kinase activity. Involved in import into nucleus and regulation of angiogenesis. Acts upstream of or within positive regulation of programmed cell death; positive regulation of transcription by RNA polymerase II; and protein autophosphorylation. Located in cytosol and nuclear envelope. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in duodenum (RPKM 33.4), small intestine (RPKM 30.9) and 24 other tissues See more Orthologs mouse all
HTATSF1, Official Symbol HTATSF1provided by HGNC Official Full Name HIV-1 Tat specific factor 1provided by HGNC Primary source HGNC:HGNC:5276 See related Ensembl:ENSG00000102241 MIM:300346; AllianceGenome:HGNC:5276 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TATSF1; TAT-SF1; dJ196E23.2 Summary The protein encoded by this gene functions as a cofactor for the stimulation of transcriptional elongation by HIV-1 Tat, which binds to the HIV-1 promoter through Tat-TAR interaction. This protein may also serve as a dual-function factor to couple transcription and splicing and to facilitate their reciprocal activation. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Sep 2009] Expression Ubiquitous expression in adrenal (RPKM 48.7), brain (RPKM 28.0) and 25 other tissues See more Orthologs mouse all
HTATSF1P1, Official Symbol HTATSF1P1provided by HGNC Official Full Name HIV-1 Tat specific factor 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:13959 See related AllianceGenome:HGNC:13959 Gene type pseudo Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HTATSF1P; TAT-SF1-L; dJ1033B10.6 Annotation information not in current annotation release
HTATSF1P2, Official Symbol HTATSF1P2provided by HGNC Official Full Name HIV-1 Tat specific factor 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:38586 See related AllianceGenome:HGNC:38586 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HTD2, Official Symbol HTD2provided by HGNC Official Full Name hydroxyacyl-thioester dehydratase type 2provided by HGNC Primary source HGNC:HGNC:53111 See related Ensembl:ENSG00000255154 AllianceGenome:HGNC:53111 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a protein that localizes to the mitochondria and can function as a 3-hydroxyacyl thioester dehydratase. This gene is located just downstream of the gene for ribonuclease P/MRP subunit p14 (RPP14) in a genomic context that is conserved among animals. The upstream RPP14 gene is thought to be co-transcribed with this gene, and bicistronic transcripts may include open reading frames for both proteins. [provided by RefSeq, May 2017] Orthologs mouse all
HTN1, Official Symbol HTN1provided by HGNC Official Full Name histatin 1provided by HGNC Primary source HGNC:HGNC:5283 See related Ensembl:ENSG00000126550 MIM:142701; AllianceGenome:HGNC:5283 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HIS1 Summary This gene encodes a member of the histatin family of small, histidine-rich, cationic proteins. They function as antimicrobial peptides and are important components of the innate immune system. Histatins are found in saliva and exhibit antibacterial, antifungal activities and function in wound healing. [provided by RefSeq, Aug 2014] Expression Restricted expression toward salivary gland (RPKM 17545.5) See more Orthologs all
HTN3, Official Symbol HTN3provided by HGNC Official Full Name histatin 3provided by HGNC Primary source HGNC:HGNC:5284 See related Ensembl:ENSG00000205649 MIM:142702; AllianceGenome:HGNC:5284 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PB; HIS2; HTN2; HTN5 Summary This gene encodes a member of the histatin family of small, histidine-rich, cationic proteins. They function as antimicrobial peptides and are important components of the innate immune system. Histatins are found in saliva and exhibit antibacterial, antifungal activities and function in wound healing. [provided by RefSeq, Sep 2014] Expression Restricted expression toward salivary gland (RPKM 33773.0) See more Orthologs all
HTR1A, Official Symbol HTR1Aprovided by HGNC Official Full Name 5-hydroxytryptamine receptor 1Aprovided by HGNC Primary source HGNC:HGNC:5286 See related Ensembl:ENSG00000178394 MIM:109760; AllianceGenome:HGNC:5286 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as G-21; 5HT1a; PFMCD; 5-HT1A; 5-HT-1A; ADRBRL1; ADRB2RL1 Summary This gene encodes a G protein-coupled receptor for 5-hydroxytryptamine (serotonin), and belongs to the 5-hydroxytryptamine receptor subfamily. Serotonin has been implicated in a number of physiologic processes and pathologic conditions. Inactivation of this gene in mice results in behavior consistent with an increased anxiety and stress response. Mutation in the promoter of this gene has been associated with menstrual cycle-dependent periodic fevers. [provided by RefSeq, Jun 2012] Orthologs mouse all
HTR1B, Official Symbol HTR1Bprovided by HGNC Official Full Name 5-hydroxytryptamine receptor 1Bprovided by HGNC Primary source HGNC:HGNC:5287 See related Ensembl:ENSG00000135312 MIM:182131; AllianceGenome:HGNC:5287 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as S12; 5-HT1B; HTR1D2; HTR1DB; 5-HT-1B; 5-HT1DB; 5-HT-1D-beta Summary The protein encoded by this intronless gene is a G-protein coupled receptor for serotonin (5-hydroxytryptamine). Ligand binding activates second messengers that inhibit the activity of adenylate cyclase and manage the release of serotonin, dopamine, and acetylcholine in the brain. The encoded protein may be involved in several neuropsychiatric disorders and therefore is often a target of antidepressant and other psychotherapeutic drugs. [provided by RefSeq, Nov 2015] Orthologs mouse all
HTR1D, Official Symbol HTR1Dprovided by HGNC Official Full Name 5-hydroxytryptamine receptor 1Dprovided by HGNC Primary source HGNC:HGNC:5289 See related Ensembl:ENSG00000179546 MIM:182133; AllianceGenome:HGNC:5289 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HTRL; RDC4; HT1DA; 5-HT1D; HTR1DA Summary Enables G protein-coupled serotonin receptor activity. Involved in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway and intestine smooth muscle contraction. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
HTR1E, Official Symbol HTR1Eprovided by HGNC Official Full Name 5-hydroxytryptamine receptor 1Eprovided by HGNC Primary source HGNC:HGNC:5291 See related Ensembl:ENSG00000168830 MIM:182132; AllianceGenome:HGNC:5291 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 5-HT1E Summary Enables G protein-coupled serotonin receptor activity and serotonin binding activity. Involved in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in ovary (RPKM 1.3), endometrium (RPKM 0.7) and 4 other tissues See more Orthologs all
HTR1F, Official Symbol HTR1Fprovided by HGNC Official Full Name 5-hydroxytryptamine receptor 1Fprovided by HGNC Primary source HGNC:HGNC:5292 See related Ensembl:ENSG00000179097 MIM:182134; AllianceGenome:HGNC:5292 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 5HT6; MR77; 5-HT1F; HTR1EL; 5-HT-1F Summary Enables G protein-coupled serotonin receptor activity and serotonin binding activity. Involved in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
HTR2A, Official Symbol HTR2Aprovided by HGNC Official Full Name 5-hydroxytryptamine receptor 2Aprovided by HGNC Primary source HGNC:HGNC:5293 See related Ensembl:ENSG00000102468 MIM:182135; AllianceGenome:HGNC:5293 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HTR2; 5-HT2A Summary This gene encodes one of the receptors for serotonin, a neurotransmitter with many roles. Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepressant citalopram in patients with major depressive disorder (MDD). MDD patients who also have a mutation in intron 2 of this gene show a significantly reduced response to citalopram as this antidepressant downregulates expression of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] Expression Biased expression in brain (RPKM 11.8) and gall bladder (RPKM 0.8) See more Orthologs mouse all
HTR2A-AS1, Official Symbol HTR2A-AS1provided by HGNC Official Full Name HTR2A antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40289 See related Ensembl:ENSG00000224517 AllianceGenome:HGNC:40289 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
HTR2B, Official Symbol HTR2Bprovided by HGNC Official Full Name 5-hydroxytryptamine receptor 2Bprovided by HGNC Primary source HGNC:HGNC:5294 See related Ensembl:ENSG00000135914 MIM:601122; AllianceGenome:HGNC:5294 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 5-HT2B; 5-HT-2B; 5-HT(2B) Summary This gene encodes one of the several different receptors for 5-hydroxytryptamine (serotonin) that belongs to the G-protein coupled receptor 1 family. Serotonin is a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. Serotonin receptors mediate many of the central and peripheral physiologic functions of serotonin, including regulation of cardiovascular functions and impulsive behavior. Population and family-based analyses of a minor allele (glutamine-to-stop substitution, designated Q20*) which blocks expression of this protein, and knockout studies in mice, suggest a role for this gene in impulsivity. However, other factors, such as elevated testosterone levels, may also be involved. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016] Expression Biased expression in endometrium (RPKM 10.3), adrenal (RPKM 7.1) and 8 other tissues See more Orthologs mouse all
HTR2C, Official Symbol HTR2Cprovided by HGNC Official Full Name 5-hydroxytryptamine receptor 2Cprovided by HGNC Primary source HGNC:HGNC:5295 See related Ensembl:ENSG00000147246 MIM:312861; AllianceGenome:HGNC:5295 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HTR1C; 5-HT1C; 5-HT2C; 5HTR2C; 5-HTR2C Summary This gene encodes a seven-transmembrane G-protein-coupled receptor. The encoded protein responds to signaling through the neurotransmitter serotonin. The mRNA of this gene is subject to multiple RNA editing events, where adenosine residues encoded by the genome are converted to inosines. RNA editing is predicted to alter the structure of the second intracellular loop, thereby generating alternate protein forms with decreased ability to interact with G proteins. Abnormalities in RNA editing of this gene have been detected in victims of suicide that suffer from depression. In addition, naturally-occuring variation in the promoter and 5' non-coding and coding regions of this gene may show statistically-significant association with mental illness and behavioral disorders. Alternative splicing results in multiple different transcript variants. [provided by RefSeq, Jan 2015] Expression Restricted expression toward brain (RPKM 1.3) See more Orthologs mouse all
HTR3A, Official Symbol HTR3Aprovided by HGNC Official Full Name 5-hydroxytryptamine receptor 3Aprovided by HGNC Primary source HGNC:HGNC:5297 See related Ensembl:ENSG00000166736 MIM:182139; AllianceGenome:HGNC:5297 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HTR3; 5HT3R; 5-HT-3; 5-HT3A; 5-HT3R Summary The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit A of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It appears that the heteromeric combination of A and B subunits is necessary to provide the full functional features of this receptor, since either subunit alone results in receptors with very low conductance and response amplitude. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Biased expression in lymph node (RPKM 3.0), appendix (RPKM 1.1) and 6 other tissues See more Orthologs mouse all
HTR3B, Official Symbol HTR3Bprovided by HGNC Official Full Name 5-hydroxytryptamine receptor 3Bprovided by HGNC Primary source HGNC:HGNC:5298 See related Ensembl:ENSG00000149305 MIM:604654; AllianceGenome:HGNC:5298 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 5-HT3B Summary The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit B of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It is not functional as a homomeric complex, but a pentaheteromeric complex with subunit A (HTR3A) displays the full functional features of this receptor. [provided by RefSeq, Aug 2011] Expression Low expression observed in reference dataset See more Orthologs mouse all
HTR3C, Official Symbol HTR3Cprovided by HGNC Official Full Name 5-hydroxytryptamine receptor 3Cprovided by HGNC Primary source HGNC:HGNC:24003 See related Ensembl:ENSG00000178084 MIM:610121; AllianceGenome:HGNC:24003 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit C of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. Genes encoding subunits C, D and E form a cluster on chromosome 3. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs all
HTR3D, Official Symbol HTR3Dprovided by HGNC Official Full Name 5-hydroxytryptamine receptor 3Dprovided by HGNC Primary source HGNC:HGNC:24004 See related Ensembl:ENSG00000186090 MIM:610122; AllianceGenome:HGNC:24004 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 5HT3D Summary The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009] Orthologs all
HTR3E, Official Symbol HTR3Eprovided by HGNC Official Full Name 5-hydroxytryptamine receptor 3Eprovided by HGNC Primary source HGNC:HGNC:24005 See related Ensembl:ENSG00000186038 MIM:610123; AllianceGenome:HGNC:24005 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 5-HT3E; 5-HT3-E; 5-HT3c1 Summary This locus encodes a 5-hydroxytryptamine (serotonin) receptor subunit. The encoded protein, subunit E, may play a role in neurotransmission in myenteric neurons. Genes encoding subunits C, D and E form a cluster on chromosome 3. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2012] Expression Low expression observed in reference dataset See more Orthologs all
HTR3E-AS1, Official Symbol HTR3E-AS1provided by HGNC Official Full Name HTR3E antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41032 See related Ensembl:ENSG00000238020 AllianceGenome:HGNC:41032 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
HTR4, Official Symbol HTR4provided by HGNC Official Full Name 5-hydroxytryptamine receptor 4provided by HGNC Primary source HGNC:HGNC:5299 See related Ensembl:ENSG00000164270 MIM:602164; AllianceGenome:HGNC:5299 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 5-HT4; 5-HT4R Summary This gene is a member of the family of serotonin receptors, which are G protein coupled receptors that stimulate cAMP production in response to serotonin (5-hydroxytryptamine). The gene product is a glycosylated transmembrane protein that functions in both the peripheral and central nervous system to modulate the release of various neurotransmitters. Multiple transcript variants encoding proteins with distinct C-terminal sequences have been described. [provided by RefSeq, May 2010] Expression Biased expression in small intestine (RPKM 2.1), duodenum (RPKM 1.1) and 5 other tissues See more Orthologs mouse all
HTR5A, Official Symbol HTR5Aprovided by HGNC Official Full Name 5-hydroxytryptamine receptor 5Aprovided by HGNC Primary source HGNC:HGNC:5300 See related Ensembl:ENSG00000157219 MIM:601305; AllianceGenome:HGNC:5300 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 5-HT5A Summary The neurotransmitter serotonin (5-hydroxytryptamine, 5-HT) has been implicated in a wide range of psychiatric conditions and also has vasoconstrictive and vasodilatory effects. The gene described in this record is a member of 5-hydroxytryptamine (serotonin) receptor family and encodes a multi-pass membrane protein that functions as a receptor for 5-hydroxytryptamine and couples to G-proteins. This protein has been shown to function in part through the regulation of intracellular Ca2+ mobilization. [provided by RefSeq, Jul 2008] Expression Restricted expression toward brain (RPKM 2.3) See more Orthologs mouse all
HTR5A-AS1, Official Symbol HTR5A-AS1provided by HGNC Official Full Name HTR5A antisense RNA 1provided by HGNC Primary source HGNC:HGNC:48956 See related Ensembl:ENSG00000220575 AllianceGenome:HGNC:48956 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HTR5AOS Expression Restricted expression toward brain (RPKM 2.6) See more
HTR5BP, Official Symbol HTR5BPprovided by HGNC Official Full Name 5-hydroxytryptamine receptor 5B, pseudogeneprovided by HGNC Primary source HGNC:HGNC:16291 See related Ensembl:ENSG00000125631 AllianceGenome:HGNC:16291 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HTR5B; 5-HT5B; GPR134
HTR6, Official Symbol HTR6provided by HGNC Official Full Name 5-hydroxytryptamine receptor 6provided by HGNC Primary source HGNC:HGNC:5301 See related Ensembl:ENSG00000158748 MIM:601109; AllianceGenome:HGNC:5301 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 5-HT6; 5-HT6R Summary This gene encodes a protein that belongs to the seven-transmembrane G protein-coupled receptor family of proteins. The encoded protein couples with the Gs alpha subunit and stimulates adenylate cyclase to activate the cyclic AMP-dependent signaling pathway. This receptor is thought to regulate cholinergic neuronal transmission in the brain. Several antidepressants and antipsychotic drugs have a high affinity for this receptor. [provided by RefSeq, Aug 2013] Expression Low expression observed in reference dataset See more Orthologs mouse all
HTR7, Official Symbol HTR7provided by HGNC Official Full Name 5-hydroxytryptamine receptor 7provided by HGNC Primary source HGNC:HGNC:5302 See related Ensembl:ENSG00000148680 MIM:182137; AllianceGenome:HGNC:5302 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 5-HT7 Summary The neurotransmitter, serotonin, is thought to play a role in various cognitive and behavioral functions. The serotonin receptor encoded by this gene belongs to the superfamily of G protein-coupled receptors and the gene is a candidate locus for involvement in autistic disorder and other neuropsychiatric disorders. Three splice variants have been identified which encode proteins that differ in the length of their carboxy terminal ends. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 6.1), urinary bladder (RPKM 2.0) and 8 other tissues See more Orthologs mouse all
HTR7P1, Official Symbol HTR7P1provided by HGNC Official Full Name 5-hydroxytryptamine receptor 7 pseudogene 1provided by HGNC Primary source HGNC:HGNC:30411 See related Ensembl:ENSG00000183935 AllianceGenome:HGNC:30411 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HTR7P
HTRA1, Official Symbol HTRA1provided by HGNC Official Full Name HtrA serine peptidase 1provided by HGNC Primary source HGNC:HGNC:9476 See related Ensembl:ENSG00000166033 MIM:602194; AllianceGenome:HGNC:9476 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as L56; HtrA; ARMD7; ORF480; PRSS11; CARASIL; CADASIL2 Summary This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008] Expression Broad expression in ovary (RPKM 155.6), gall bladder (RPKM 130.0) and 22 other tissues See more Orthologs mouse all
HTRA2, Official Symbol HTRA2provided by HGNC Official Full Name HtrA serine peptidase 2provided by HGNC Primary source HGNC:HGNC:14348 See related Ensembl:ENSG00000115317 MIM:606441; AllianceGenome:HGNC:14348 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OMI; MGCA8; PARK13; PRSS25 Summary This gene encodes a serine protease. The protein has been localized in the endoplasmic reticulum and interacts with an alternatively spliced form of mitogen-activated protein kinase 14. The protein has also been localized to the mitochondria with release to the cytosol following apoptotic stimulus. The protein is thought to induce apoptosis by binding the apoptosis inhibitory protein baculoviral IAP repeat-containing 4. Nuclear localization of this protein has also been observed. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in spleen (RPKM 12.3), bone marrow (RPKM 11.8) and 25 other tissues See more Orthologs mouse all
HTRA3, Official Symbol HTRA3provided by HGNC Official Full Name HtrA serine peptidase 3provided by HGNC Primary source HGNC:HGNC:30406 See related Ensembl:ENSG00000170801 MIM:608785; AllianceGenome:HGNC:30406 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Prsp; Tasp Summary Enables endopeptidase activity; identical protein binding activity; and serine-type peptidase activity. Involved in proteolysis. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in ovary (RPKM 19.8), gall bladder (RPKM 16.9) and 19 other tissues See more Orthologs mouse all
HTRA4, Official Symbol HTRA4provided by HGNC Official Full Name HtrA serine peptidase 4provided by HGNC Primary source HGNC:HGNC:26909 See related Ensembl:ENSG00000169495 MIM:610700; AllianceGenome:HGNC:26909 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the HtrA family of proteases. The encoded protein contains a putative signal peptide, an insulin growth factor binding domain, a Kazal protease inhibitor domain, a conserved trypsin domain and a PDZ domain. Based on studies on other related family members, this enzyme may function as a secreted oligomeric chaperone protease to degrade misfolded secretory proteins. Other human HtrA proteins have been implicated in arthritis, tumor suppression, unfolded stress response, apoptosis, and aging. [provided by RefSeq, Oct 2008] Expression Biased expression in placenta (RPKM 16.9) and bone marrow (RPKM 1.2) See more Orthologs mouse all
HTT, Official Symbol HTTprovided by HGNC Official Full Name huntingtinprovided by HGNC Primary source HGNC:HGNC:4851 See related Ensembl:ENSG00000197386 MIM:613004; AllianceGenome:HGNC:4851 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HD; IT15; LOMARS Summary Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in brain (RPKM 9.1), skin (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
HULC, Official Symbol HULCprovided by HGNC Official Full Name hepatocellular carcinoma up-regulated long non-coding RNAprovided by HGNC Primary source HGNC:HGNC:34232 See related MIM:612210; AllianceGenome:HGNC:34232 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HCCAT1; LINC00078; NCRNA00078 Summary This gene produces a long RNA that was discovered as upregulated in hepatocellular carcinoma and is associated with cancer progression. Expression of this transcript is regulated by microRNAs and at the transcriptional level by Sp1 family factors. The transcript may regulate gene expression by functioning as a competing RNA for microRNAs. [provided by RefSeq, Dec 2017] Expression Restricted expression toward liver (RPKM 152.9) See more
HUNK, Official Symbol HUNKprovided by HGNC Official Full Name hormonally up-regulated Neu-associated kinaseprovided by HGNC Primary source HGNC:HGNC:13326 See related Ensembl:ENSG00000142149 MIM:606532; AllianceGenome:HGNC:13326 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in intracellular signal transduction and protein phosphorylation. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in placenta (RPKM 1.4), colon (RPKM 1.2) and 20 other tissues See more Orthologs mouse all
HUS1, Official Symbol HUS1provided by HGNC Official Full Name HUS1 checkpoint clamp componentprovided by HGNC Primary source HGNC:HGNC:5309 See related Ensembl:ENSG00000136273 MIM:603760; AllianceGenome:HGNC:5309 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as hHUS1 Summary The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in bone marrow (RPKM 3.6), thyroid (RPKM 3.6) and 25 other tissues See more Orthologs mouse all
HUS1B, Official Symbol HUS1Bprovided by HGNC Official Full Name HUS1 checkpoint clamp component Bprovided by HGNC Primary source HGNC:HGNC:16485 See related Ensembl:ENSG00000188996 MIM:609713; AllianceGenome:HGNC:16485 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene is most closely related to HUS1, a component of a cell cycle checkpoint protein complex involved in cell cycle arrest in response to DNA damage. This protein can interact with the check point protein RAD1 but not with RAD9. Overexpression of this protein has been shown to induce cell death, which suggests a related but distinct role of this protein, as compared to the HUS1. [provided by RefSeq, Jul 2008] Orthologs mouse all
HUWE1, Official Symbol HUWE1provided by HGNC Official Full Name HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1provided by HGNC Primary source HGNC:HGNC:30892 See related Ensembl:ENSG00000086758 MIM:300697; AllianceGenome:HGNC:30892 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MULE; Ib772; LASU1; MRXST; UREB1; HECTH9; URE-B1; ARF-BP1; HSPC272 Summary This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic cognitive disability. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in ovary (RPKM 14.5), testis (RPKM 13.8) and 25 other tissues See more Orthologs mouse all
HVCN1, Official Symbol HVCN1provided by HGNC Official Full Name hydrogen voltage gated channel 1provided by HGNC Primary source HGNC:HGNC:28240 See related Ensembl:ENSG00000122986 MIM:611227; AllianceGenome:HGNC:28240 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HV1; VSOP Summary This gene encodes a voltage-gated protein channel protein expressed more highly in certain cells of the immune system. Phagocytic cells produce superoxide anions which require this channel protein, and in B cells this same process facilitates antibody production. This same channel protein, however, can also regulate functions in other cells including spermatozoa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] Expression Broad expression in lymph node (RPKM 18.5), testis (RPKM 16.2) and 21 other tissues See more Orthologs mouse all
HYAL1, Official Symbol HYAL1provided by HGNC Official Full Name hyaluronidase 1provided by HGNC Primary source HGNC:HGNC:5320 See related Ensembl:ENSG00000114378 MIM:607071; AllianceGenome:HGNC:5320 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MPS9; NAT6; LUCA1; HYAL-1 Summary This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in liver (RPKM 19.6), spleen (RPKM 16.7) and 10 other tissues See more Orthologs mouse all
HYAL2, Official Symbol HYAL2provided by HGNC Official Full Name hyaluronidase 2provided by HGNC Primary source HGNC:HGNC:5321 See related Ensembl:ENSG00000068001 MIM:603551; AllianceGenome:HGNC:5321 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LUCA2 Summary This gene encodes a weak acid-active hyaluronidase. The encoded protein is similar in structure to other more active hyaluronidases. Hyaluronidases degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan and fragments of hyaluronan are thought to be involved in cell proliferation, migration and differentiation. Although it was previously thought to be a lysosomal hyaluronidase that is active at a pH below 4, the encoded protein is likely a GPI-anchored cell surface protein. This hyaluronidase serves as a receptor for the oncogenic virus Jaagsiekte sheep retrovirus. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. This gene encodes two alternatively spliced transcript variants which differ only in the 5' UTR.[provided by RefSeq, Mar 2010] Expression Broad expression in spleen (RPKM 78.9), lung (RPKM 35.1) and 20 other tissues See more Orthologs mouse all
HYAL3, Official Symbol HYAL3provided by HGNC Official Full Name hyaluronidase 3provided by HGNC Primary source HGNC:HGNC:5322 See related Ensembl:ENSG00000186792 MIM:604038; AllianceGenome:HGNC:5322 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LUCA3; HYAL-3; LUCA-3 Summary This gene encodes a member of the hyaluronidase family. Hyaluronidases are endoglycosidase enzymes that degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. The regulated turnover of hyaluronan plays a critical role in many biological processes including cell proliferation, migration and differentiation. The encoded protein may also play an important role in sperm function. This gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression, and the expression of specific transcript variants may be indicative of tumor status. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and some isoforms may lack hyaluronidase activity. This gene overlaps and is on the same strand as N-acetyltransferase 6 (GCN5-related), and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011] Expression Broad expression in bone marrow (RPKM 11.6), testis (RPKM 6.6) and 20 other tissues See more Orthologs mouse all
HYAL4, Official Symbol HYAL4provided by HGNC Official Full Name hyaluronidase 4provided by HGNC Primary source HGNC:HGNC:5323 See related Ensembl:ENSG00000106302 MIM:604510; AllianceGenome:HGNC:5323 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CSHY; HYAL-4 Summary This gene encodes a protein which is similar in structure to hyaluronidases but lacks hyaluronidase activity. The encoded protein acts as a chondroitin-sulfate-specific endo-beta-N-acetylgalactosaminidase; that is, it exhibits hydrolytic activity toward chondroitin sulfate chains and degrades them into oligosaccharides. Proteoglycans are formed by the covalent linkage of chondroitin sulfate chains to protein. Proteoglycans are ubiquitous components of the extracellular matrix of connective tissues and are also found at the surface of many cell types where they participate in a variety of cellular processes such as cell proliferation, differentiation, migration, cell-cell recognition, extracellular matrix deposition, and tissue morphogenesis. The expression of this gene is highest in testes and placenta. [provided by RefSeq, Apr 2019] Expression Low expression observed in reference dataset See more Orthologs mouse all
HYAL6P, Official Symbol HYAL6Pprovided by HGNC Official Full Name hyaluronidase 6, pseudogeneprovided by HGNC Primary source HGNC:HGNC:5324 See related AllianceGenome:HGNC:5324 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HYAL6; HYALP1 Expression Low expression observed in reference dataset See more