psui3905/ncbi_genes_summary huggingface dataset:
HPCAL1, Official Symbol HPCAL1provided by HGNC Official Full Name hippocalcin like 1provided by HGNC Primary source HGNC:HGNC:5145 See related Ensembl:ENSG00000115756 MIM:600207; AllianceGenome:HGNC:5145 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 BDR1; HLP2; VILIP-3 Summary The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. It is highly similar to human hippocalcin protein and nearly identical to the rat and mouse hippocalcin like-1 proteins. It may be involved in the calcium-dependent regulation of rhodopsin phosphorylation and may be of relevance for neuronal signalling in the central nervous system. Several alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2012] Expression Ubiquitous expression in lung (RPKM 11.7), small intestine (RPKM 9.0) and 25 other tissues See more Orthologs all
HPCAL4, Official Symbol HPCAL4provided by HGNC Official Full Name hippocalcin like 4provided by HGNC Primary source HGNC:HGNC:18212 See related Ensembl:ENSG00000116983 MIM:619211; AllianceGenome:HGNC:18212 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 HLP4 Summary The protein encoded by this gene is highly similar to human hippocalcin protein and hippocalcin like-1 protein. It also has similarity to rat neural visinin-like Ca2+-binding protein-type 1 and 2 proteins. This encoded protein may be involved in the calcium-dependent regulation of rhodopsin phosphorylation. The transcript of this gene has multiple polyadenylation sites. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] Expression Biased expression in brain (RPKM 58.2), adrenal (RPKM 5.9) and 2 other tissues See more Orthologs mouse all
HPD, Official Symbol HPDprovided by HGNC Official Full Name 4-hydroxyphenylpyruvate dioxygenaseprovided by HGNC Primary source HGNC:HGNC:5147 See related Ensembl:ENSG00000158104 MIM:609695; AllianceGenome:HGNC:5147 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 PPD; HPPD; 4HPPD; GLOD3; 4-HPPD; HPPDASE Summary The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] Expression Biased expression in liver (RPKM 441.7) and kidney (RPKM 174.9) See more Orthologs mouse all
HPDL, Official Symbol HPDLprovided by HGNC Official Full Name 4-hydroxyphenylpyruvate dioxygenase likeprovided by HGNC Primary source HGNC:HGNC:28242 See related Ensembl:ENSG00000186603 MIM:618994; AllianceGenome:HGNC:28242 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 SPG83; GLOXD1; NEDSWMA; 4-HPPD-L Summary The protein encoded by this intronless gene localizes to mitochondria, where it may function as 4-hydroxyphenylpyruvate dioxygenase. Clinical studies have identified several bi-allelic variants in this gene that lower the level of the encoded protein and lead to a clinically variable form of pediatric-onset spastic movement disorder. [provided by RefSeq, Aug 2020] Orthologs mouse all
HPF1, Official Symbol HPF1provided by HGNC Official Full Name histone PARylation factor 1provided by HGNC Primary source HGNC:HGNC:26051 See related Ensembl:ENSG00000056050 MIM:616614; AllianceGenome:HGNC:26051 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 C4orf27 Summary Enables chromatin binding activity and histone binding activity. Involved in double-strand break repair; peptidyl-serine ADP-ribosylation; and regulation of protein modification process. Located in chromatin; nucleus; and site of DNA damage. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 6.3), endometrium (RPKM 6.0) and 25 other tissues See more Orthologs mouse all
HPGD, Official Symbol HPGDprovided by HGNC Official Full Name 15-hydroxyprostaglandin dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:5154 See related Ensembl:ENSG00000164120 MIM:601688; AllianceGenome:HGNC:5154 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 PGDH; PGDH1; PHOAR1; 15-PGDH; SDR36C1 Summary This gene encodes a member of the short-chain nonmetalloenzyme alcohol dehydrogenase protein family. The encoded enzyme is responsible for the metabolism of prostaglandins, which function in a variety of physiologic and cellular processes such as inflammation. Mutations in this gene result in primary autosomal recessive hypertrophic osteoarthropathy and cranioosteoarthropathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Expression Biased expression in urinary bladder (RPKM 176.8), stomach (RPKM 67.9) and 11 other tissues See more Orthologs mouse all
HPGDS, Official Symbol HPGDSprovided by HGNC Official Full Name hematopoietic prostaglandin D synthaseprovided by HGNC Primary source HGNC:HGNC:17890 See related Ensembl:ENSG00000163106 MIM:602598; AllianceGenome:HGNC:17890 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 GSTS; PGD2; PGDS; GSTS1; GSTS1-1 Summary Prostaglandin-D synthase is a sigma class glutathione-S-transferase family member. The enzyme catalyzes the conversion of PGH2 to PGD2 and plays a role in the production of prostanoids in the immune system and mast cells. The presence of this enzyme can be used to identify the differentiation stage of human megakaryocytes. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 12.7), lung (RPKM 6.6) and 16 other tissues See more Orthologs mouse all
HPN, Official Symbol HPNprovided by HGNC Official Full Name hepsinprovided by HGNC Primary source HGNC:HGNC:5155 See related Ensembl:ENSG00000105707 MIM:142440; AllianceGenome:HGNC:5155 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 TMPRSS1 Summary This gene encodes a type II transmembrane serine protease that may be involved in diverse cellular functions, including blood coagulation and the maintenance of cell morphology. Expression of the encoded protein is associated with the growth and progression of cancers, particularly prostate cancer. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] Expression Biased expression in liver (RPKM 53.7), kidney (RPKM 49.5) and 5 other tissues See more Orthologs mouse all
HPN-AS1, Official Symbol HPN-AS1provided by HGNC Official Full Name HPN antisense RNA 1provided by HGNC Primary source HGNC:HGNC:47041 See related Ensembl:ENSG00000227392 AllianceGenome:HGNC:47041 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information Note: The gene type is uncertain. There is scant homology support for predicted proteins and so the locus is represented as non-protein-coding at this time. [09 Dec 2008] Expression Biased expression in kidney (RPKM 1.7), liver (RPKM 1.7) and 7 other tissues See more
HPR, Official Symbol HPRprovided by HGNC Official Full Name haptoglobin-related proteinprovided by HGNC Primary source HGNC:HGNC:5156 See related Ensembl:ENSG00000261701 MIM:140210; AllianceGenome:HGNC:5156 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 HP; A-259H10.2 Summary This gene encodes a haptoglobin-related protein that binds hemoglobin as efficiently as haptoglobin. Unlike haptoglobin, plasma concentration of this protein is unaffected in patients with sickle cell anemia and extensive intravascular hemolysis, suggesting a difference in binding between haptoglobin-hemoglobin and haptoglobin-related protein-hemoglobin complexes to CD163, the hemoglobin scavenger receptor. This protein may also be a clinically important predictor of recurrence of breast cancer. [provided by RefSeq, Oct 2011] Expression Restricted expression toward liver (RPKM 3276.0) See more Orthologs all
HPRT1, Official Symbol HPRT1provided by HGNC Official Full Name hypoxanthine phosphoribosyltransferase 1provided by HGNC Primary source HGNC:HGNC:5157 See related Ensembl:ENSG00000165704 MIM:308000; AllianceGenome:HGNC:5157 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 HPRT; HGPRT Summary The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009] Expression Broad expression in testis (RPKM 45.9), brain (RPKM 28.9) and 25 other tissues See more Orthologs mouse all
HPRT1P1, Official Symbol HPRT1P1provided by HGNC Official Full Name hypoxanthine phosphoribosyltransferase 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51622 See related AllianceGenome:HGNC:51622 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
HPRT1P2, Official Symbol HPRT1P2provided by HGNC Official Full Name hypoxanthine phosphoribosyltransferase 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:5160 See related AllianceGenome:HGNC:5160 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 HPRTP2
HPRT1P3, Official Symbol HPRT1P3provided by HGNC Official Full Name hypoxanthine phosphoribosyltransferase 1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:5161 See related Ensembl:ENSG00000256752 AllianceGenome:HGNC:5161 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 HPRTP3; HPRTP4
HPS1, Official Symbol HPS1provided by HGNC Official Full Name HPS1 biogenesis of lysosomal organelles complex 3 subunit 1provided by HGNC Primary source HGNC:HGNC:5163 See related Ensembl:ENSG00000107521 MIM:604982; AllianceGenome:HGNC:5163 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 HPS; BLOC3S1 Summary This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015] Expression Ubiquitous expression in spleen (RPKM 13.6), bone marrow (RPKM 13.3) and 25 other tissues See more Orthologs mouse all
HPS3, Official Symbol HPS3provided by HGNC Official Full Name HPS3 biogenesis of lysosomal organelles complex 2 subunit 1provided by HGNC Primary source HGNC:HGNC:15597 See related Ensembl:ENSG00000163755 MIM:606118; AllianceGenome:HGNC:15597 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 SUTAL; BLOC2S1 Summary This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015] Expression Broad expression in liver (RPKM 82.9), lymph node (RPKM 10.8) and 18 other tissues See more Orthologs mouse all
HPS4, Official Symbol HPS4provided by HGNC Official Full Name HPS4 biogenesis of lysosomal organelles complex 3 subunit 2provided by HGNC Primary source HGNC:HGNC:15844 See related Ensembl:ENSG00000100099 MIM:606682; AllianceGenome:HGNC:15844 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 LE; BLOC3S2 Summary This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] Expression Ubiquitous expression in testis (RPKM 8.6), skin (RPKM 8.1) and 25 other tissues See more Orthologs mouse all
HPS5, Official Symbol HPS5provided by HGNC Official Full Name HPS5 biogenesis of lysosomal organelles complex 2 subunit 2provided by HGNC Primary source HGNC:HGNC:17022 See related Ensembl:ENSG00000110756 MIM:607521; AllianceGenome:HGNC:17022 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 AIBP63; BLOC2S2 Summary This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 12.4), liver (RPKM 9.8) and 25 other tissues See more Orthologs mouse all
HPS6, Official Symbol HPS6provided by HGNC Official Full Name HPS6 biogenesis of lysosomal organelles complex 2 subunit 3provided by HGNC Primary source HGNC:HGNC:18817 See related Ensembl:ENSG00000166189 MIM:607522; AllianceGenome:HGNC:18817 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 BLOC2S3 Summary This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008] Orthologs mouse all
HPSE, Official Symbol HPSEprovided by HGNC Official Full Name heparanaseprovided by HGNC Primary source HGNC:HGNC:5164 See related Ensembl:ENSG00000173083 MIM:604724; AllianceGenome:HGNC:5164 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 HPA; HPA1; HPR1; HSE1; HPSE1 Summary Heparan sulfate proteoglycans are major components of the basement membrane and extracellular matrix. The protein encoded by this gene is an enzyme that cleaves heparan sulfate proteoglycans to permit cell movement through remodeling of the extracellular matrix. In addition, this cleavage can release bioactive molecules from the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] Expression Ubiquitous expression in appendix (RPKM 3.0), esophagus (RPKM 2.9) and 24 other tissues See more Orthologs mouse all
HPSE2, Official Symbol HPSE2provided by HGNC Official Full Name heparanase 2 (inactive)provided by HGNC Primary source HGNC:HGNC:18374 See related Ensembl:ENSG00000172987 MIM:613469; AllianceGenome:HGNC:18374 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 UFS; HPA2; HPR2; UFS1 Summary This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Biased expression in esophagus (RPKM 5.3), prostate (RPKM 4.1) and 13 other tissues See more Orthologs mouse all
HPX, Official Symbol HPXprovided by HGNC Official Full Name hemopexinprovided by HGNC Primary source HGNC:HGNC:5171 See related Ensembl:ENSG00000110169 MIM:142290; AllianceGenome:HGNC:5171 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 HX Summary This gene encodes a plasma glycoprotein that binds heme with high affinity. The encoded protein is an acute phase protein that transports heme from the plasma to the liver and may be involved in protecting cells from oxidative stress. [provided by RefSeq, Apr 2009] Expression Restricted expression toward liver (RPKM 1209.1) See more Orthologs mouse all
HPYR1, Official Symbol HPYR1provided by HGNC Official Full Name Helicobacter pylori responsive 1provided by HGNC Primary source HGNC:HGNC:16071 See related Ensembl:ENSG00000253521 AllianceGenome:HGNC:16071 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HPRG1; LINC00027; NCRNA00027
HR, Official Symbol HRprovided by HGNC Official Full Name HR lysine demethylase and nuclear receptor corepressorprovided by HGNC Primary source HGNC:HGNC:5172 See related Ensembl:ENSG00000168453 MIM:602302; AllianceGenome:HGNC:5172 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 AU; MUHH; ALUNC; HYPT4; MUHH1; HSA277165 Summary This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by a regulatory open reading frame (ORF) that exists upstream of the primary ORF. Mutations in this upstream ORF cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss. Mutations in this gene also cause autosomal recessive congenital alopecia and atrichia with papular lesions, other diseases resulting in hair loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014] Expression Biased expression in skin (RPKM 28.2), esophagus (RPKM 5.5) and 8 other tissues See more Orthologs mouse all
HRAS, Official Symbol HRASprovided by HGNC Official Full Name HRas proto-oncogene, GTPaseprovided by HGNC Primary source HGNC:HGNC:5173 See related Ensembl:ENSG00000174775 MIM:190020; AllianceGenome:HGNC:5173 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 CTLO; HAMSV; HRAS1; RASH1; p21ras; C-H-RAS; H-RASIDX; C-BAS/HAS; C-HA-RAS1 Summary This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, cognitive disability, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in skin (RPKM 24.4), brain (RPKM 14.8) and 25 other tissues See more Orthologs mouse all
HRAT17, Gene symbol HRAT17 Gene description heart tissue-associated transcript 17 See related Ensembl:ENSG00000234520 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 Restricted expression toward heart (RPKM 17.0) See more
HRC, Official Symbol HRCprovided by HGNC Official Full Name histidine rich calcium binding proteinprovided by HGNC Primary source HGNC:HGNC:5178 See related Ensembl:ENSG00000130528 MIM:142705; AllianceGenome:HGNC:5178 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 luminal sarcoplasmic reticulum protein identified by its ability to bind low-density lipoprotein with high affinity. The protein interacts with the cytoplasmic domain of triadin, the main transmembrane protein of the junctional sarcoplasmic reticulum (SR) of skeletal muscle. The protein functions in the regulation of releasable calcium into the SR. [provided by RefSeq, Sep 2008] Expression Restricted expression toward heart (RPKM 206.9) See more Orthologs mouse all
HRCT1, Official Symbol HRCT1provided by HGNC Official Full Name histidine rich carboxyl terminus 1provided by HGNC Primary source HGNC:HGNC:33872 See related Ensembl:ENSG00000196196 AllianceGenome:HGNC:33872 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 PRO537; UNQ338; LGLL338 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
HRG, Official Symbol HRGprovided by HGNC Official Full Name histidine rich glycoproteinprovided by HGNC Primary source HGNC:HGNC:5181 See related Ensembl:ENSG00000113905 MIM:142640; AllianceGenome:HGNC:5181 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 HPRG; HRGP; THPH11 Summary This histidine-rich glycoprotein contains two cystatin-like domains and is located in plasma and platelets. The physiological function has not been determined but it is known that the protein binds heme, dyes and divalent metal ions. The encoded protein also has a peptide that displays antimicrobial activity against C. albicans, E. coli, S. aureus, P. aeruginosa, and E. faecalis. It can inhibit rosette formation and interacts with heparin, thrombospondin and plasminogen. Two of the protein's effects, the inhibition of fibrinolysis and the reduction of inhibition of coagulation, indicate a potential prothrombotic effect. Mutations in this gene lead to thrombophilia due to abnormal histidine-rich glycoprotein levels. [provided by RefSeq, Nov 2014] Expression Restricted expression toward liver (RPKM 1677.7) See more Orthologs mouse all
HRH1, Official Symbol HRH1provided by HGNC Official Full Name histamine receptor H1provided by HGNC Primary source HGNC:HGNC:5182 See related Ensembl:ENSG00000196639 MIM:600167; AllianceGenome:HGNC:5182 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 H1R; H1-R; HH1R; hisH1 Summary Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. The protein encoded by this gene is an integral membrane protein and belongs to the G protein-coupled receptor superfamily. It mediates the contraction of smooth muscles, the increase in capillary permeability due to contraction of terminal venules, the release of catecholamine from adrenal medulla, and neurotransmission in the central nervous system. It has been associated with multiple processes, including memory and learning, circadian rhythm, and thermoregulation. It is also known to contribute to the pathophysiology of allergic diseases such as atopic dermatitis, asthma, anaphylaxis and allergic rhinitis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2015] Expression Ubiquitous expression in brain (RPKM 4.0), urinary bladder (RPKM 3.8) and 21 other tissues See more Orthologs mouse all
HRH2, Official Symbol HRH2provided by HGNC Official Full Name histamine receptor H2provided by HGNC Primary source HGNC:HGNC:5183 See related Ensembl:ENSG00000113749 MIM:142703; AllianceGenome:HGNC:5183 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 H2R; HH2R Summary Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. Histamine receptor H2 belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and stimulates gastric acid secretion. It also regulates gastrointestinal motility and intestinal secretion and is thought to be involved in regulating cell growth and differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] Expression Broad expression in bone marrow (RPKM 7.6), heart (RPKM 5.0) and 18 other tissues See more Orthologs mouse all
HRH3, Official Symbol HRH3provided by HGNC Official Full Name histamine receptor H3provided by HGNC Primary source HGNC:HGNC:5184 See related Ensembl:ENSG00000101180 MIM:604525; AllianceGenome:HGNC:5184 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 HH3R; GPCR97 Summary Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. This gene encodes one of the histamine receptors (H3) which belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and can regulate neurotransmitter release. This receptor can also increase voltage-dependent calcium current in smooth muscles and innervates the blood vessels and the heart in cardiovascular system. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 2.9), testis (RPKM 0.2) and 2 other tissues See more Orthologs mouse all
HRH4, Official Symbol HRH4provided by HGNC Official Full Name histamine receptor H4provided by HGNC Primary source HGNC:HGNC:17383 See related Ensembl:ENSG00000134489 MIM:606792; AllianceGenome:HGNC:17383 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 H4; H4R; BG26; HH4R; AXOR35; GPRv53; GPCR105 Summary Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by a family of histamine receptors, which are a subset of the G-protein coupled receptor superfamily. This gene encodes a histamine receptor that is predominantly expressed in haematopoietic cells. The protein is thought to play a role in inflammation and allergy reponses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
HRK, Official Symbol HRKprovided by HGNC Official Full Name harakiri, BCL2 interacting proteinprovided by HGNC Primary source HGNC:HGNC:5185 See related Ensembl:ENSG00000135116 MIM:603447; AllianceGenome:HGNC:5185 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 DP5; HARAKIRI Summary This gene encodes a member of the BCL-2 protein family. Members of this family are involved in activating or inhibiting apoptosis. The encoded protein localizes to intracellular membranes. This protein promotes apoptosis by interacting with the apoptotic inhibitors BCL-2 and BCL-X(L) via its BH3 domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] Expression Biased expression in brain (RPKM 5.1), thyroid (RPKM 2.9) and 3 other tissues See more Orthologs mouse all
HRNR, Official Symbol HRNRprovided by HGNC Official Full Name hornerinprovided by HGNC Primary source HGNC:HGNC:20846 See related Ensembl:ENSG00000197915 MIM:616293; AllianceGenome:HGNC:20846 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 FLG3; S100A16; S100a18 Summary Predicted to enable calcium ion binding activity and transition metal ion binding activity. Involved in cell envelope organization and establishment of skin barrier. Located in cornified envelope; keratohyalin granule; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
HROB, Official Symbol HROBprovided by HGNC Official Full Name homologous recombination factor with OB-foldprovided by HGNC Primary source HGNC:HGNC:28460 See related Ensembl:ENSG00000125319 MIM:618611; AllianceGenome:HGNC:28460 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 MCM8IP; C17orf53 Summary Predicted to enable single-stranded DNA binding activity. Involved in DNA synthesis involved in DNA repair and interstrand cross-link repair. Located in site of DNA damage. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 4.5), bone marrow (RPKM 2.8) and 14 other tissues See more Orthologs mouse all
HS1BP3, Official Symbol HS1BP3provided by HGNC Official Full Name HCLS1 binding protein 3provided by HGNC Primary source HGNC:HGNC:24979 See related Ensembl:ENSG00000118960 MIM:609359; AllianceGenome:HGNC:24979 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 ETM2; HS1-BP3 Summary The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte activation. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 5.9), adrenal (RPKM 5.4) and 25 other tissues See more Orthologs mouse all
HS1BP3-IT1, Official Symbol HS1BP3-IT1provided by HGNC Official Full Name HS1BP3 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41474 See related Ensembl:ENSG00000231948 AllianceGenome:HGNC:41474 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 Biased expression in liver (RPKM 3.4), spleen (RPKM 0.6) and 6 other tissues See more
HS2ST1, Official Symbol HS2ST1provided by HGNC Official Full Name heparan sulfate 2-O-sulfotransferase 1provided by HGNC Primary source HGNC:HGNC:5193 See related Ensembl:ENSG00000153936 MIM:604844; AllianceGenome:HGNC:5193 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 NFSRA; dJ604K5.2 Summary Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Aug 2008] Expression Ubiquitous expression in adrenal (RPKM 13.4), thyroid (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
HS3ST1, Official Symbol HS3ST1provided by HGNC Official Full Name heparan sulfate-glucosamine 3-sulfotransferase 1provided by HGNC Primary source HGNC:HGNC:5194 See related Ensembl:ENSG00000002587 MIM:603244; AllianceGenome:HGNC:5194 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 3OST; 3OST1 Summary Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It possesses both heparan sulfate glucosaminyl 3-O-sulfotransferase activity, anticoagulant heparan sulfate conversion activity, and is a rate limiting enzyme for synthesis of anticoagulant heparan. This enzyme is an intraluminal Golgi resident protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in urinary bladder (RPKM 2.8), gall bladder (RPKM 0.9) and 19 other tissues See more Orthologs mouse all
HS3ST2, Official Symbol HS3ST2provided by HGNC Official Full Name heparan sulfate-glucosamine 3-sulfotransferase 2provided by HGNC Primary source HGNC:HGNC:5195 See related Ensembl:ENSG00000122254 MIM:604056; AllianceGenome:HGNC:5195 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 30ST2; 3OST2 Summary Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. This gene is expressed predominantly in brain and may play a role in the nervous system. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 12.4) and lung (RPKM 0.7) See more Orthologs mouse all
HS3ST3A1, Official Symbol HS3ST3A1provided by HGNC Official Full Name heparan sulfate-glucosamine 3-sulfotransferase 3A1provided by HGNC Primary source HGNC:HGNC:5196 See related Ensembl:ENSG00000153976 MIM:604057; AllianceGenome:HGNC:5196 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 3OST3A1; 3-OST-3A Summary Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. The sulfotransferase domain of this enzyme is highly similar to the same domain of heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3B1, and these two enzymes sulfate an identical disaccharide. This gene is widely expressed, with the most abundant expression in liver and placenta. [provided by RefSeq, Dec 2014] Expression Broad expression in spleen (RPKM 1.4), ovary (RPKM 1.0) and 20 other tissues See more Orthologs all
HS3ST3B1, Official Symbol HS3ST3B1provided by HGNC Official Full Name heparan sulfate-glucosamine 3-sulfotransferase 3B1provided by HGNC Primary source HGNC:HGNC:5198 See related Ensembl:ENSG00000125430 MIM:604058; AllianceGenome:HGNC:5198 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 3OST3B1; 3-OST-3B; h3-OST-3B Summary The protein encoded by this gene is a type II integral membrane protein that belongs to the 3-O-sulfotransferases family. These proteins catalyze the addition of sulfate groups at the 3-OH position of glucosamine in heparan sulfate. The substrate specificity of individual members of the family is based on prior modification of the heparan sulfate chain, thus allowing different members of the family to generate binding sites for different proteins on the same heparan sulfate chain. Following treatment with a histone deacetylase inhibitor, expression of this gene is activated in a pancreatic cell line. The increased expression results in promotion of the epithelial-mesenchymal transition. In addition, the modification catalyzed by this protein allows herpes simplex virus membrane fusion and penetration. A very closely related homolog with an almost identical sulfotransferase domain maps less than 1 Mb away. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] Expression Broad expression in liver (RPKM 6.8), lymph node (RPKM 3.1) and 21 other tissues See more Orthologs all
HS3ST4, Official Symbol HS3ST4provided by HGNC Official Full Name heparan sulfate-glucosamine 3-sulfotransferase 4provided by HGNC Primary source HGNC:HGNC:5200 See related Ensembl:ENSG00000182601 MIM:604059; AllianceGenome:HGNC:5200 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 30ST4; 3OST4; 3-OST-4; h3-OST-4 Summary This gene encodes the enzyme heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4. This enzyme generates 3-O-sulfated glucosaminyl residues in heparan sulfate. Cell surface heparan sulfate is used as a receptor by herpes simplex virus type 1 (HSV-1), and expression of this gene is thought to play a role in HSV-1 pathogenesis. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 7.8), spleen (RPKM 1.0) and 1 other tissue See more Orthologs mouse all
HS3ST5, Official Symbol HS3ST5provided by HGNC Official Full Name heparan sulfate-glucosamine 3-sulfotransferase 5provided by HGNC Primary source HGNC:HGNC:19419 See related Ensembl:ENSG00000249853 MIM:609407; AllianceGenome:HGNC:19419 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 3OST5; 3-OST-5; HS3OST5; NBLA04021 Summary HS3ST5 belongs to a group of heparan sulfate 3-O-sulfotransferases (EC 2.8.2.23) that transfer sulfate from 3-prime-phosphoadenosine 5-prime phosphosulfate (PAPS) to heparan sulfate and heparin (Mochizuki et al., 2003 [PubMed 12740361]).[supplied by OMIM, Mar 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
HS3ST6, Official Symbol HS3ST6provided by HGNC Official Full Name heparan sulfate-glucosamine 3-sulfotransferase 6provided by HGNC Primary source HGNC:HGNC:14178 See related Ensembl:ENSG00000162040 MIM:619210; AllianceGenome:HGNC:14178 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 HAE8; 3OST6; HS3ST5; 3-OST-6 Summary Predicted to enable [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity. Predicted to be involved in glycosaminoglycan biosynthetic process. Predicted to act upstream of or within blastocyst hatching. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 2.3), placenta (RPKM 0.2) and 1 other tissue See more Orthologs mouse all
HS6ST1, Official Symbol HS6ST1provided by HGNC Official Full Name heparan sulfate 6-O-sulfotransferase 1provided by HGNC Primary source HGNC:HGNC:5201 See related Ensembl:ENSG00000136720 MIM:604846; AllianceGenome:HGNC:5201 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 HH15; HS6ST Summary The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 27.2), testis (RPKM 16.9) and 25 other tissues See more Orthologs mouse all
HS6ST2, Official Symbol HS6ST2provided by HGNC Official Full Name heparan sulfate 6-O-sulfotransferase 2provided by HGNC Primary source HGNC:HGNC:19133 See related Ensembl:ENSG00000171004 MIM:300545; AllianceGenome:HGNC:19133 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 MRXSPM Summary Heparan sulfate proteoglycans are ubiquitous components of the cell surface, extracellular matrix, and basement membranes, and interact with various ligands to influence cell growth, differentiation, adhesion, and migration. This gene encodes a member of the heparan sulfate (HS) sulfotransferase gene family, which catalyze the transfer of sulfate to HS. Different family members and isoforms are thought to synthesize heparan sulfates with tissue-specific structures and functions. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in kidney (RPKM 4.4), ovary (RPKM 4.1) and 11 other tissues See more Orthologs mouse all