psui3905/ncbi_genes_summary huggingface dataset:
STMN4, Official Symbol STMN4provided by HGNC Official Full Name stathmin 4provided by HGNC Primary source HGNC:HGNC:16078 See related Ensembl:ENSG00000015592 AllianceGenome:HGNC:16078 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 RB3 Summary Predicted to enable tubulin binding activity. Predicted to be involved in microtubule depolymerization; neuron projection development; and regulation of microtubule polymerization or depolymerization. Predicted to be located in Golgi apparatus and growth cone. Predicted to be active in cytoplasm and neuron projection. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward brain (RPKM 50.0) See more Orthologs mouse all
STMND1, Official Symbol STMND1provided by HGNC Official Full Name stathmin domain containing 1provided by HGNC Primary source HGNC:HGNC:44668 See related Ensembl:ENSG00000230873 AllianceGenome:HGNC:44668 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 tubulin binding activity. Predicted to be involved in microtubule depolymerization; neuron projection development; and regulation of microtubule polymerization or depolymerization. Predicted to be active in cytoplasm and neuron projection. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 4.2), gall bladder (RPKM 2.8) and 4 other tissues See more Orthologs mouse all
STMP1, Official Symbol STMP1provided by HGNC Official Full Name short transmembrane mitochondrial protein 1provided by HGNC Primary source HGNC:HGNC:41909 See related Ensembl:ENSG00000243317 MIM:618755; AllianceGenome:HGNC:41909 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 Mm47; C7orf73; PL-5283 Summary Predicted to be involved in positive regulation of NLRP3 inflammasome complex assembly and positive regulation of interleukin-1 beta production. Predicted to be located in mitochondrial intermembrane space and mitochondrial outer membrane. Predicted to be active in mitochondrial respirasome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 20.9), testis (RPKM 17.4) and 25 other tissues See more Orthologs mouse all
STN1, Official Symbol STN1provided by HGNC Official Full Name STN1 subunit of CST complexprovided by HGNC Primary source HGNC:HGNC:26200 See related Ensembl:ENSG00000107960 MIM:613128; AllianceGenome:HGNC:26200 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 AAF44; OBFC1; AAF-44; RPA-32; bA541N10.2 Summary OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009] Expression Ubiquitous expression in testis (RPKM 3.8), lung (RPKM 3.8) and 25 other tissues See more Orthologs mouse all
STOM, Official Symbol STOMprovided by HGNC Official Full Name stomatinprovided by HGNC Primary source HGNC:HGNC:3383 See related Ensembl:ENSG00000148175 MIM:133090; AllianceGenome:HGNC:3383 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 BND7; EPB7; EPB72 Summary This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in fat (RPKM 161.3), bone marrow (RPKM 127.5) and 23 other tissues See more Orthologs mouse all
STOML1, Official Symbol STOML1provided by HGNC Official Full Name stomatin like 1provided by HGNC Primary source HGNC:HGNC:14560 See related Ensembl:ENSG00000067221 MIM:608326; AllianceGenome:HGNC:14560 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 SLP-1; STORP; hUNC-24 Summary Predicted to enable ion channel inhibitor activity. Predicted to be involved in lipid transport. Predicted to act upstream of or within SMAD protein signal transduction; cellular response to leukemia inhibitory factor; and negative regulation of acid-sensing ion channel activity. Predicted to be located in cytoplasmic vesicle. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 7.6), thyroid (RPKM 3.3) and 25 other tissues See more Orthologs mouse all
STOML2, Official Symbol STOML2provided by HGNC Official Full Name stomatin like 2provided by HGNC Primary source HGNC:HGNC:14559 See related Ensembl:ENSG00000165283 MIM:608292; AllianceGenome:HGNC:14559 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 SLP-2; HSPC108 Summary Enables GTPase binding activity and cardiolipin binding activity. Involved in several processes, including inorganic cation transmembrane transport; positive regulation of cardiolipin metabolic process; and positive regulation of mitochondrial DNA replication. Located in membrane raft; mitochondrial inner membrane; and mitochondrial intermembrane space. Is extrinsic component of plasma membrane. Colocalizes with several cellular components, including COP9 signalosome; T cell receptor complex; and immunological synapse. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 27.8), heart (RPKM 26.8) and 25 other tissues See more Orthologs mouse all
STOML3, Official Symbol STOML3provided by HGNC Official Full Name stomatin like 3provided by HGNC Primary source HGNC:HGNC:19420 See related Ensembl:ENSG00000133115 MIM:608327; AllianceGenome:HGNC:19420 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 SRO; Epb7.2l Summary Predicted to act upstream of or within signal transduction. Predicted to be located in cilium and membrane raft. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lung (RPKM 1.0), endometrium (RPKM 0.3) and 2 other tissues See more Orthologs mouse all
STON1, Official Symbol STON1provided by HGNC Official Full Name stonin 1provided by HGNC Primary source HGNC:HGNC:17003 See related Ensembl:ENSG00000243244 MIM:605357; AllianceGenome:HGNC:17003 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 SALF; SBLF; STN1; STNB1 Summary Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of the plasma membrane. This gene encodes one of two human homologs of the Drosophila melanogaster stoned B protein. This protein is related to components of the endocytic machinery and exhibits a modular structure consisting of an N-terminal proline-rich domain, a central region of homology specific to the human stoned B-like proteins, and a C-terminal region homologous to the mu subunits of adaptor protein (AP) complexes. Read-through transcription of this gene into the neighboring downstream gene, which encodes TFIIA-alpha/beta-like factor, generates a transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] Expression Broad expression in endometrium (RPKM 13.8), ovary (RPKM 13.3) and 21 other tissues See more Orthologs mouse all
STON1-GTF2A1L, Official Symbol STON1-GTF2A1Lprovided by HGNC Official Full Name STON1-GTF2A1L readthroughprovided by HGNC Primary source HGNC:HGNC:30651 See related Ensembl:ENSG00000068781 AllianceGenome:HGNC:30651 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 ALF; SALF; GTF2A1L; GTF2A1LF Summary STON1-GTF2A1L mRNAs are infrequent but naturally occurring read-through products of the neighboring STON1 and GTF2A1L genes. These transcripts encode fusion proteins composed of the vast majority of each of the individual elements, stonin 1 and general transcription factor IIA, 1-like. Alternative splicing results in multiple transcript variants. The significance of these read-through variants and the function of the resulting protein products have not yet been determined. [provided by RefSeq, Oct 2010] Expression Broad expression in testis (RPKM 13.2), endometrium (RPKM 9.3) and 20 other tissues See more Orthologs all
STON2, Official Symbol STON2provided by HGNC Official Full Name stonin 2provided by HGNC Primary source HGNC:HGNC:30652 See related Ensembl:ENSG00000140022 MIM:608467; AllianceGenome:HGNC:30652 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 STN2; STNB; STNB2 Summary This gene encodes a protein which is a membrane protein involved in regulating endocytotic complexes. The protein product is described as one of the clathrin-associated sorting proteins, adaptor molecules which ensure specific proteins are internalized. The encoded protein has also been shown to participate in synaptic vesicle recycling through interaction with synaptotagmin 1 required for neurotransmission. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] Expression Broad expression in brain (RPKM 5.7), spleen (RPKM 3.8) and 19 other tissues See more Orthologs mouse all
STOX1, Official Symbol STOX1provided by HGNC Official Full Name storkhead box 1provided by HGNC Primary source HGNC:HGNC:23508 See related Ensembl:ENSG00000165730 MIM:609397; AllianceGenome:HGNC:23508 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 C10orf24 Summary Enables RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including positive regulation of G2/M transition of mitotic cell cycle; positive regulation of protein phosphorylation; and regulation of gene expression. Located in centrosome; cytosol; and nuclear lumen. Implicated in pre-eclampsia. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 2.8), fat (RPKM 2.4) and 21 other tissues See more Orthologs mouse all
STOX2, Official Symbol STOX2provided by HGNC Official Full Name storkhead box 2provided by HGNC Primary source HGNC:HGNC:25450 See related Ensembl:ENSG00000173320 MIM:617359; AllianceGenome:HGNC:25450 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 Storkhead-box_winged-helix domain containing protein. This protein is differentially expressed in decidual tissue and may be involved in the susceptibility to pre-eclampsia with fetal growth restriction. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015] Expression Broad expression in brain (RPKM 5.4), thyroid (RPKM 2.4) and 22 other tissues See more Orthologs mouse all
STPG1, Official Symbol STPG1provided by HGNC Official Full Name sperm tail PG-rich repeat containing 1provided by HGNC Primary source HGNC:HGNC:28070 See related Ensembl:ENSG00000001460 MIM:615826; AllianceGenome:HGNC:28070 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 MAPO2; C1orf201 Summary Involved in positive regulation of apoptotic process and positive regulation of mitochondrial membrane permeability involved in apoptotic process. Predicted to be located in mitochondrion and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 15.3), brain (RPKM 3.3) and 20 other tissues See more Orthologs mouse all
STPG2, Official Symbol STPG2provided by HGNC Official Full Name sperm tail PG-rich repeat containing 2provided by HGNC Primary source HGNC:HGNC:28712 See related Ensembl:ENSG00000163116 AllianceGenome:HGNC:28712 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 C4orf37 Expression Low expression observed in reference dataset See more Orthologs mouse all
STPG2-AS1, Official Symbol STPG2-AS1provided by HGNC Official Full Name STPG2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41209 See related Ensembl:ENSG00000251620 AllianceGenome:HGNC:41209 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
STPG3, Official Symbol STPG3provided by HGNC Official Full Name sperm-tail PG-rich repeat containing 3provided by HGNC Primary source HGNC:HGNC:37285 See related Ensembl:ENSG00000197768 AllianceGenome:HGNC:37285 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 C9orf173 Summary Predicted to be active in cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 14.0), duodenum (RPKM 2.2) and 4 other tissues See more Orthologs mouse all
STPG3-AS1, Official Symbol STPG3-AS1provided by HGNC Official Full Name STPG3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51176 See related Ensembl:ENSG00000275549 AllianceGenome:HGNC:51176 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 C9orf173-AS1 Expression Biased expression in testis (RPKM 6.8), duodenum (RPKM 2.1) and 7 other tissues See more
STPG4, Official Symbol STPG4provided by HGNC Official Full Name sperm-tail PG-rich repeat containing 4provided by HGNC Primary source HGNC:HGNC:26850 See related Ensembl:ENSG00000239605 AllianceGenome:HGNC:26850 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 GSE; C2orf61 Summary Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in DNA demethylation of male pronucleus and positive regulation of DNA demethylation. Predicted to act upstream of or within C-5 methylation of cytosine. Predicted to be located in cytoplasm and nucleus. Predicted to be active in female pronucleus; germinal vesicle; and male pronucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 2.2) See more Orthologs mouse all
STRA6, Official Symbol STRA6provided by HGNC Official Full Name signaling receptor and transporter of retinol STRA6provided by HGNC Primary source HGNC:HGNC:30650 See related Ensembl:ENSG00000137868 MIM:610745; AllianceGenome:HGNC:30650 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 MCOPS9; MCOPCB8; PP14296 Summary The protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across the cell membrane. Defects in this gene are a cause of syndromic microphthalmia type 9 (MCOPS9). Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] Expression Biased expression in placenta (RPKM 6.8), endometrium (RPKM 4.0) and 6 other tissues See more Orthologs mouse all
STRA8, Official Symbol STRA8provided by HGNC Official Full Name stimulated by retinoic acid 8provided by HGNC Primary source HGNC:HGNC:30653 See related Ensembl:ENSG00000146857 MIM:609987; AllianceGenome:HGNC:30653 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 retinoic acid-responsive protein. A homologous protein in mouse has been shown to be involved in the regulation of meiotic initiation in both spermatogenesis and oogenesis, though feature differences between the mouse and human proteins suggest that these homologs are not entirely functionally equivalent. It is thought that this gene may play a role in spermatogenesis in humans. [provided by RefSeq, Nov 2010] Expression Low expression observed in reference dataset See more Orthologs mouse all
STRADA, Official Symbol STRADAprovided by HGNC Official Full Name STE20 related adaptor alphaprovided by HGNC Primary source HGNC:HGNC:30172 See related Ensembl:ENSG00000266173 MIM:608626; AllianceGenome:HGNC:30172 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 LYK5; PMSE; Stlk; STRAD; NY-BR-96; STRAD alpha Summary The protein encoded by this gene contains a STE20-like kinase domain, but lacks several residues that are critical for catalytic activity, so it is termed a 'pseudokinase'. The protein forms a heterotrimeric complex with serine/threonine kinase 11 (STK11, also known as LKB1) and the scaffolding protein calcium binding protein 39 (CAB39, also known as MO25). The protein activates STK11 leading to the phosphorylation of both proteins and excluding STK11 from the nucleus. The protein is necessary for STK11-induced G1 cell cycle arrest. A mutation in this gene has been shown to result in polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their full-length nature is not known. [provided by RefSeq, Sep 2009] Expression Broad expression in testis (RPKM 18.6), brain (RPKM 8.0) and 24 other tissues See more Orthologs mouse all
STRADB, Official Symbol STRADBprovided by HGNC Official Full Name STE20 related adaptor betaprovided by HGNC Primary source HGNC:HGNC:13205 See related Ensembl:ENSG00000082146 MIM:607333; AllianceGenome:HGNC:13205 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 PAPK; ILPIP; ILPIPA; ALS2CR2; CALS-21; PRO1038 Summary This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] Expression Ubiquitous expression in bone marrow (RPKM 24.2), kidney (RPKM 22.5) and 25 other tissues See more Orthologs mouse all
STRAP, Official Symbol STRAPprovided by HGNC Official Full Name serine/threonine kinase receptor associated proteinprovided by HGNC Primary source HGNC:HGNC:30796 See related Ensembl:ENSG00000023734 MIM:605986; AllianceGenome:HGNC:30796 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 MAWD; PT-WD; UNRIP Summary Enables RNA binding activity. Involved in maintenance of gastrointestinal epithelium; negative regulation of transforming growth factor beta receptor signaling pathway; and spliceosomal snRNP assembly. Located in cytosol. Part of SMN complex. Implicated in adenocarcinoma; colorectal carcinoma; large cell carcinoma; lung carcinoma; and squamous cell neoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 51.3), thyroid (RPKM 49.9) and 25 other tissues See more Orthologs mouse all
STRBP, Official Symbol STRBPprovided by HGNC Official Full Name spermatid perinuclear RNA binding proteinprovided by HGNC Primary source HGNC:HGNC:16462 See related Ensembl:ENSG00000165209 MIM:611138; AllianceGenome:HGNC:16462 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 p74; SPNR; ILF3L; HEL162 Summary Enables RNA binding activity. Predicted to be involved in spermatogenesis. Predicted to act upstream of or within mechanosensory behavior and spermatid development. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 6.5), lymph node (RPKM 4.6) and 25 other tissues See more Orthologs mouse all
STRC, Official Symbol STRCprovided by HGNC Official Full Name stereocilinprovided by HGNC Primary source HGNC:HGNC:16035 See related Ensembl:ENSG00000242866 MIM:606440; AllianceGenome:HGNC:16035 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 DFNB16 Summary This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness. [provided by RefSeq, Jul 2008] Expression Broad expression in skin (RPKM 1.3), colon (RPKM 1.3) and 19 other tissues See more Orthologs mouse all
STRIP1, Official Symbol STRIP1provided by HGNC Official Full Name striatin interacting protein 1provided by HGNC Primary source HGNC:HGNC:25916 See related Ensembl:ENSG00000143093 MIM:617918; AllianceGenome:HGNC:25916 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 FAM40A; FAR11A Summary This gene encodes a member of the striatin-interacting phosphatase and kinase complex, which is involved in localization of the Golgi body. The encoded protein participates in cytosketelal organization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in testis (RPKM 12.7), bone marrow (RPKM 10.4) and 25 other tissues See more Orthologs mouse all
STRIP2, Official Symbol STRIP2provided by HGNC Official Full Name striatin interacting protein 2provided by HGNC Primary source HGNC:HGNC:22209 See related Ensembl:ENSG00000128578 MIM:617919; AllianceGenome:HGNC:22209 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 FAM40B; FAR11B Summary Involved in cell migration; cytoskeleton organization; and regulation of cell shape. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 7.5), brain (RPKM 4.0) and 9 other tissues See more Orthologs mouse all
STRIT1, Official Symbol STRIT1provided by HGNC Official Full Name small transmembrane regulator of ion transport 1provided by HGNC Primary source HGNC:HGNC:52297 See related Ensembl:ENSG00000240045 MIM:616891; AllianceGenome:HGNC:52297 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 DWORF Summary Predicted to enable enzyme activator activity. Predicted to be involved in regulation of calcium ion transport and regulation of striated muscle contraction. Predicted to act upstream of or within positive regulation of ATPase-coupled calcium transmembrane transporter activity and positive regulation of calcium ion import. Predicted to be located in sarcoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in prostate (RPKM 12.1), esophagus (RPKM 5.3) and 4 other tissues See more Orthologs mouse all
STRN, Official Symbol STRNprovided by HGNC Official Full Name striatinprovided by HGNC Primary source HGNC:HGNC:11424 See related Ensembl:ENSG00000115808 MIM:614765; AllianceGenome:HGNC:11424 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 SG2NA; STRN1; PPP2R6A Summary Enables armadillo repeat domain binding activity; estrogen receptor binding activity; and protein phosphatase 2A binding activity. Involved in Wnt signaling pathway and negative regulation of cell population proliferation. Located in bicellular tight junction. Part of FAR/SIN/STRIPAK complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 6.7), brain (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
STRN3, Official Symbol STRN3provided by HGNC Official Full Name striatin 3provided by HGNC Primary source HGNC:HGNC:15720 See related Ensembl:ENSG00000196792 MIM:614766; AllianceGenome:HGNC:15720 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 SG2NA; S/G2NA; PPP2R6B Summary Enables armadillo repeat domain binding activity; protein phosphatase 2A binding activity; and small GTPase binding activity. Involved in negative regulation of transcription by RNA polymerase II and positive regulation of transcription by RNA polymerase II. Located in Golgi apparatus; nucleoplasm; and plasma membrane. Part of FAR/SIN/STRIPAK complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 11.4), fat (RPKM 8.6) and 25 other tissues See more Orthologs mouse all
STRN4, Official Symbol STRN4provided by HGNC Official Full Name striatin 4provided by HGNC Primary source HGNC:HGNC:15721 See related Ensembl:ENSG00000090372 MIM:614767; AllianceGenome:HGNC:15721 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 ZIN; PPP2R6C; zinedin Summary Enables armadillo repeat domain binding activity and protein phosphatase 2A binding activity. Part of FAR/SIN/STRIPAK complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 42.4), spleen (RPKM 16.0) and 25 other tissues See more Orthologs mouse all
STS, Official Symbol STSprovided by HGNC Official Full Name steroid sulfataseprovided by HGNC Primary source HGNC:HGNC:11425 See related Ensembl:ENSG00000101846 MIM:300747; AllianceGenome:HGNC:11425 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 ES; ASC; XLI; ARSC; SSDD; ARSC1 Summary This gene encodes a multi-pass membrane protein that is localized to the endoplasmic reticulum. It belongs to the sulfatase family and hydrolyzes several 3-beta-hydroxysteroid sulfates, which serve as metabolic precursors for estrogens, androgens, and cholesterol. Mutations in this gene are associated with X-linked ichthyosis (XLI). Alternatively spliced transcript variants resulting from the use of different promoters have been described for this gene (PMID:17601726). [provided by RefSeq, Mar 2016] Expression Broad expression in placenta (RPKM 15.1), fat (RPKM 11.7) and 22 other tissues See more Orthologs mouse all
STSP1, Official Symbol STSP1provided by HGNC Official Full Name steroid sulfatase (microsomal) pseudogene 1provided by HGNC Primary source HGNC:HGNC:11426 See related Ensembl:ENSG00000227166 AllianceGenome:HGNC:11426 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 STSP; STS-Y
STT3A, Official Symbol STT3Aprovided by HGNC Official Full Name STT3 oligosaccharyltransferase complex catalytic subunit Aprovided by HGNC Primary source HGNC:HGNC:6172 See related Ensembl:ENSG00000134910 MIM:601134; AllianceGenome:HGNC:6172 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 TMC; ITM1; STT3-A; CDG1WAD; CDG1WAR Summary The protein encoded by this gene is a catalytic subunit of the N-oligosaccharyltransferase (OST) complex, which functions in the endoplasmic reticulum to transfer glycan chains to asparagine residues of target proteins. A separate complex containing a similar catalytic subunit with an overlapping function also exists. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015] Expression Ubiquitous expression in thyroid (RPKM 41.7), endometrium (RPKM 25.2) and 25 other tissues See more Orthologs mouse all
STT3B, Official Symbol STT3Bprovided by HGNC Official Full Name STT3 oligosaccharyltransferase complex catalytic subunit Bprovided by HGNC Primary source HGNC:HGNC:30611 See related Ensembl:ENSG00000163527 MIM:608605; AllianceGenome:HGNC:30611 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 SIMP; CDG1X; STT3-B Summary The protein encoded by this gene is a catalytic subunit of a protein complex that transfers oligosaccharides onto asparagine residues. Defects in this gene are a cause of congenital disorder of glycosylation Ix (CDG1X). [provided by RefSeq, Jun 2014] Expression Ubiquitous expression in testis (RPKM 42.8), thyroid (RPKM 37.3) and 25 other tissues See more Orthologs mouse all
STUB1, Official Symbol STUB1provided by HGNC Official Full Name STIP1 homology and U-box containing protein 1provided by HGNC Primary source HGNC:HGNC:11427 See related Ensembl:ENSG00000103266 MIM:607207; AllianceGenome:HGNC:11427 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 CHIP; SCA48; UBOX1; SCAR16; HSPABP2; NY-CO-7; SDCCAG7 Summary This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014] Expression Ubiquitous expression in fat (RPKM 42.9), kidney (RPKM 39.1) and 25 other tissues See more Orthologs mouse all
STUM, Official Symbol STUMprovided by HGNC Official Full Name stum, mechanosensory transduction mediator homologprovided by HGNC Primary source HGNC:HGNC:30491 See related Ensembl:ENSG00000203685 AllianceGenome:HGNC:30491 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 C1orf95 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 14.0), esophagus (RPKM 3.3) and 11 other tissues See more Orthologs mouse all
STX10, Official Symbol STX10provided by HGNC Official Full Name syntaxin 10provided by HGNC Primary source HGNC:HGNC:11428 See related Ensembl:ENSG00000104915 MIM:603765; AllianceGenome:HGNC:11428 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 SYN10; hsyn10 Summary This gene belongs to the syntaxin family and encodes a soluble N-ethylmaleimide sensitive factor attachment protein receptor (SNARE). The encoded protein is involved in docking and fusion events at the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] Expression Ubiquitous expression in bone marrow (RPKM 17.6), spleen (RPKM 14.3) and 25 other tissues See more Orthologs all
STX11, Official Symbol STX11provided by HGNC Official Full Name syntaxin 11provided by HGNC Primary source HGNC:HGNC:11429 See related Ensembl:ENSG00000135604 MIM:605014; AllianceGenome:HGNC:11429 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 FHL4; HLH4; HPLH4 Summary This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008] Expression Biased expression in bone marrow (RPKM 13.4), fat (RPKM 5.2) and 8 other tissues See more Orthologs mouse all
STX12, Official Symbol STX12provided by HGNC Official Full Name syntaxin 12provided by HGNC Primary source HGNC:HGNC:11430 See related Ensembl:ENSG00000117758 MIM:606892; AllianceGenome:HGNC:11430 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 STX13; STX14 Summary Predicted to enable SNAP receptor activity and SNARE binding activity. Involved in autophagosome assembly; cholesterol efflux; and protein stabilization. Located in several cellular components, including membrane raft; phagocytic vesicle; and phagophore assembly site. Part of SNARE complex. Colocalizes with BLOC-1 complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 63.8), fat (RPKM 35.7) and 25 other tissues See more Orthologs mouse all
STX16, Official Symbol STX16provided by HGNC Official Full Name syntaxin 16provided by HGNC Primary source HGNC:HGNC:11431 See related Ensembl:ENSG00000124222 MIM:603666; AllianceGenome:HGNC:11431 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 SYN16; SYN-16 Summary This gene encodes a protein that is a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for V-SNARES (vesicle-SNAP receptors) permitting specific synaptic vesicle docking and fusion. A microdeletion in the region of chromosome 20 where this gene is located has been associated with pseudohypoparathyroidism type Ib. Multiple transcript variants have been found for this gene. Read-through transcription also exists between this gene and the neighboring downstream aminopeptidase-like 1 (NPEPL1) gene. [provided by RefSeq, Mar 2011] Expression Ubiquitous expression in spleen (RPKM 25.9), lymph node (RPKM 25.7) and 25 other tissues See more Orthologs mouse all
STX16-NPEPL1, Official Symbol STX16-NPEPL1provided by HGNC Official Full Name STX16-NPEPL1 readthrough (NMD candidate)provided by HGNC Primary source HGNC:HGNC:41993 See related Ensembl:ENSG00000254995 AllianceGenome:HGNC:41993 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This locus represents naturally occurring read-through transcription between the neighboring syntaxin 16 (STX16) and aminopeptidase-like 1 (NPEPL1) genes on chromosome 20. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Mar 2011] Expression Ubiquitous expression in spleen (RPKM 20.8), fat (RPKM 17.6) and 25 other tissues See more
STX17, Official Symbol STX17provided by HGNC Official Full Name syntaxin 17provided by HGNC Primary source HGNC:HGNC:11432 See related Ensembl:ENSG00000136874 MIM:604204; AllianceGenome:HGNC:11432 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 Enables SNAP receptor activity; SNARE binding activity; and protein phosphatase binding activity. Involved in several processes, including autophagosome membrane docking; endoplasmic reticulum to Golgi vesicle-mediated transport; and endoplasmic reticulum-Golgi intermediate compartment organization. Acts upstream of or within protein localization to phagophore assembly site. Located in several cellular components, including autophagosome membrane; endoplasmic reticulum-Golgi intermediate compartment; and mitochondria-associated endoplasmic reticulum membrane. Part of SNARE complex. Colocalizes with HOPS complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 7.7), skin (RPKM 7.1) and 25 other tissues See more Orthologs mouse all
STX18, Official Symbol STX18provided by HGNC Official Full Name syntaxin 18provided by HGNC Primary source HGNC:HGNC:15942 See related Ensembl:ENSG00000168818 MIM:606046; AllianceGenome:HGNC:15942 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 Ufe1 Summary This gene encodes a member of the syntaxin family of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs) which is part of a membrane tethering complex that includes other SNAREs and several peripheral membrane proteins, and is involved in vesicular transport between the endoplasmic reticulum (ER) and the Golgi complex. The encoded protein is important for the organization of the smooth, rough, and exit site ER subdomains. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016] Expression Ubiquitous expression in endometrium (RPKM 20.8), skin (RPKM 17.0) and 25 other tissues See more Orthologs mouse all
STX18-AS1, Official Symbol STX18-AS1provided by HGNC Official Full Name STX18 antisense RNA 1 (head to head)provided by HGNC Primary source HGNC:HGNC:48877 See related Ensembl:ENSG00000247708 AllianceGenome:HGNC:48877 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 Broad expression in testis (RPKM 1.2), ovary (RPKM 0.6) and 24 other tissues See more
STX18-IT1, Official Symbol STX18-IT1provided by HGNC Official Full Name STX18 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41415 See related Ensembl:ENSG00000248221 AllianceGenome:HGNC:41415 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
STX19, Official Symbol STX19provided by HGNC Official Full Name syntaxin 19provided by HGNC Primary source HGNC:HGNC:19300 See related Ensembl:ENSG00000178750 AllianceGenome:HGNC:19300 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 SNAP receptor activity and SNARE binding activity. Predicted to be involved in intracellular protein transport; synaptic vesicle fusion to presynaptic active zone membrane; and vesicle docking. Predicted to be part of SNARE complex. Predicted to be active in presynaptic active zone membrane and synaptic vesicle. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in colon (RPKM 5.0), small intestine (RPKM 2.5) and 10 other tissues See more Orthologs mouse all
STX1A, Official Symbol STX1Aprovided by HGNC Official Full Name syntaxin 1Aprovided by HGNC Primary source HGNC:HGNC:11433 See related Ensembl:ENSG00000106089 MIM:186590; AllianceGenome:HGNC:11433 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 STX1; HPC-1; P35-1; SYN1A Summary This gene encodes a member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins possess a single C-terminal transmembrane domain, a SNARE [Soluble NSF (N-ethylmaleimide-sensitive fusion protein)-Attachment protein REceptor] domain (known as H3), and an N-terminal regulatory domain (Habc). Syntaxins bind synaptotagmin in a calcium-dependent fashion and interact with voltage dependent calcium and potassium channels via the C-terminal H3 domain. This gene product is a key molecule in ion channel regulation and synaptic exocytosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] Expression Biased expression in brain (RPKM 28.2), bone marrow (RPKM 2.7) and 3 other tissues See more Orthologs mouse all
STX1B, Official Symbol STX1Bprovided by HGNC Official Full Name syntaxin 1Bprovided by HGNC Primary source HGNC:HGNC:18539 See related Ensembl:ENSG00000099365 MIM:601485; AllianceGenome:HGNC:18539 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 GEFSP9; STX1B1; STX1B2 Summary The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015] Expression Biased expression in brain (RPKM 32.7) and testis (RPKM 1.4) See more Orthologs mouse all