psui3905/ncbi_genes_summary huggingface dataset:
SERPING1, Official Symbol SERPING1provided by HGNC Official Full Name serpin family G member 1provided by HGNC Primary source HGNC:HGNC:1228 See related Ensembl:ENSG00000149131 MIM:606860; AllianceGenome:HGNC:1228 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 C1IN; C1NH; HAE1; HAE2; C1INH Summary This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its encoded protein, C1 inhibitor, inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. It is synthesized in the liver, and its deficiency is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, May 2020] Expression Broad expression in liver (RPKM 710.5), gall bladder (RPKM 322.8) and 17 other tissues See more Orthologs mouse all
SERPINH1, Official Symbol SERPINH1provided by HGNC Official Full Name serpin family H member 1provided by HGNC Primary source HGNC:HGNC:1546 See related Ensembl:ENSG00000149257 MIM:600943; AllianceGenome:HGNC:1546 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 CBP1; CBP2; OI10; gp46; AsTP3; HSP47; PIG14; PPROM; RA-A47; SERPINH2 Summary This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011] Expression Broad expression in placenta (RPKM 140.7), endometrium (RPKM 76.2) and 21 other tissues See more Orthologs mouse all
SERPINI1, Official Symbol SERPINI1provided by HGNC Official Full Name serpin family I member 1provided by HGNC Primary source HGNC:HGNC:8943 See related Ensembl:ENSG00000163536 MIM:602445; AllianceGenome:HGNC:8943 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 PI12; HNS-S1; HNS-S2; neuroserpin Summary This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 83.3), testis (RPKM 7.2) and 3 other tissues See more Orthologs mouse all
SERPINI2, Official Symbol SERPINI2provided by HGNC Official Full Name serpin family I member 2provided by HGNC Primary source HGNC:HGNC:8945 See related Ensembl:ENSG00000114204 MIM:605587; AllianceGenome:HGNC:8945 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 MEPI; PI14; PANCPIN; TSA2004 Summary The gene encodes a member of a family of proteins that acts as inhibitors of serine proteases. These proteins function in the regulation of a variety of physiological processes, including coagulation, fibrinolysis, development, malignancy, and inflammation. Expression of the encoded protein may be downregulated during pancreatic carcinogenesis. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013] Expression Restricted expression toward pancreas (RPKM 124.3) See more Orthologs mouse all
SERTAD1, Official Symbol SERTAD1provided by HGNC Official Full Name SERTA domain containing 1provided by HGNC Primary source HGNC:HGNC:17932 See related Ensembl:ENSG00000197019 MIM:617850; AllianceGenome:HGNC:17932 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 SEI1; TRIPBR1; TRIP-Br1 Summary Predicted to be involved in epigenetic maintenance of chromatin in transcription-competent conformation. Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 19.1), gall bladder (RPKM 14.1) and 25 other tissues See more Orthologs mouse all
SERTAD2, Official Symbol SERTAD2provided by HGNC Official Full Name SERTA domain containing 2provided by HGNC Primary source HGNC:HGNC:30784 See related Ensembl:ENSG00000179833 MIM:617851; AllianceGenome:HGNC:30784 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 Sei-2; TRIPBR2; TRIP-Br2 Summary Predicted to enable transcription coactivator activity. Acts upstream of or within negative regulation of cell growth. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 29.6), esophagus (RPKM 11.9) and 24 other tissues See more Orthologs mouse all
SERTAD3, Official Symbol SERTAD3provided by HGNC Official Full Name SERTA domain containing 3provided by HGNC Primary source HGNC:HGNC:17931 See related Ensembl:ENSG00000167565 MIM:612125; AllianceGenome:HGNC:17931 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 RBT1 Summary The protein encoded by this gene was identified in a yeast two-hybrid assay employing the second subunit of human replication protein A as bait. It is localized to the nucleus and its expression is significantly higher in cancer cell lines compared to normal cell lines. This protein has also been shown to be a strong transcriptional co-activator. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 11.9), prostate (RPKM 10.6) and 25 other tissues See more Orthologs mouse all
SERTAD3-AS1, Official Symbol SERTAD3-AS1provided by HGNC Official Full Name SERTAD3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:55281 See related AllianceGenome:HGNC:55281 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
SERTAD4, Official Symbol SERTAD4provided by HGNC Official Full Name SERTA domain containing 4provided by HGNC Primary source HGNC:HGNC:25236 See related Ensembl:ENSG00000082497 AllianceGenome:HGNC:25236 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 DJ667H12.2 Summary Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in endometrium (RPKM 2.8), salivary gland (RPKM 2.4) and 20 other tissues See more Orthologs mouse all
SERTM1, Official Symbol SERTM1provided by HGNC Official Full Name serine rich and transmembrane domain containing 1provided by HGNC Primary source HGNC:HGNC:33792 See related Ensembl:ENSG00000180440 AllianceGenome:HGNC:33792 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 C13orf36 Summary Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 12.4), endometrium (RPKM 5.9) and 4 other tissues See more Orthologs mouse all
SERTM2, Official Symbol SERTM2provided by HGNC Official Full Name serine rich and transmembrane domain containing 2provided by HGNC Primary source HGNC:HGNC:48576 See related Ensembl:ENSG00000260802 AllianceGenome:HGNC:48576 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 LINC00890; DKFZp686D0853 Summary Predicted to be integral component of membrane. Predicted to be active in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in endometrium (RPKM 22.3), prostate (RPKM 6.6) and 1 other tissue See more Orthologs mouse all
SESN1, Official Symbol SESN1provided by HGNC Official Full Name sestrin 1provided by HGNC Primary source HGNC:HGNC:21595 See related Ensembl:ENSG00000080546 MIM:606103; AllianceGenome:HGNC:21595 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 PA26; SEST1 Summary This gene encodes a member of the sestrin family. Sestrins are induced by the p53 tumor suppressor protein and play a role in the cellular response to DNA damage and oxidative stress. The encoded protein mediates p53 inhibition of cell growth by activating AMP-activated protein kinase, which results in the inhibition of the mammalian target of rapamycin protein. The encoded protein also plays a critical role in antioxidant defense by regenerating overoxidized peroxiredoxins, and the expression of this gene is a potential marker for exposure to radiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in testis (RPKM 26.4), ovary (RPKM 22.9) and 25 other tissues See more Orthologs mouse all
SESN2, Official Symbol SESN2provided by HGNC Official Full Name sestrin 2provided by HGNC Primary source HGNC:HGNC:20746 See related Ensembl:ENSG00000130766 MIM:607767; AllianceGenome:HGNC:20746 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 HI95; SES2; SEST2 Summary This gene encodes a member of the sestrin family of PA26-related proteins. The encoded protein may function in the regulation of cell growth and survival. This protein may be involved in cellular response to different stress conditions. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 15.0), kidney (RPKM 10.3) and 24 other tissues See more Orthologs mouse all
SESN3, Official Symbol SESN3provided by HGNC Official Full Name sestrin 3provided by HGNC Primary source HGNC:HGNC:23060 See related Ensembl:ENSG00000149212 MIM:607768; AllianceGenome:HGNC:23060 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 SEST3 Summary This gene encodes a member of the sestrin family of stress-induced proteins. The encoded protein reduces the levels of intracellular reactive oxygen species induced by activated Ras downstream of RAC-alpha serine/threonine-protein kinase (Akt) and FoxO transcription factor. The protein is required for normal regulation of blood glucose, insulin resistance and plays a role in lipid storage in obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] Expression Ubiquitous expression in brain (RPKM 14.9), lymph node (RPKM 14.4) and 24 other tissues See more Orthologs mouse all
SESTD1, Official Symbol SESTD1provided by HGNC Official Full Name SEC14 and spectrin domain containing 1provided by HGNC Primary source HGNC:HGNC:18379 See related Ensembl:ENSG00000187231 AllianceGenome:HGNC:18379 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 SOLO Summary Enables phosphatidylinositol-3,4-bisphosphate binding activity and phospholipid binding activity. Involved in negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel. Located in intermediate filament cytoskeleton. Colocalizes with calcium channel complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 11.0), lung (RPKM 7.2) and 24 other tissues See more Orthologs mouse all
SET, Official Symbol SETprovided by HGNC Official Full Name SET nuclear proto-oncogeneprovided by HGNC Primary source HGNC:HGNC:10760 See related Ensembl:ENSG00000119335 MIM:600960; AllianceGenome:HGNC:10760 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 2PP2A; IGAAD; MRD58; TAF-I; I2PP2A; IPP2A2; PHAPII; TAF-IBETA Summary The protein encoded by this gene inhibits acetylation of nucleosomes, especially histone H4, by histone acetylases (HAT). This inhibition is most likely accomplished by masking histone lysines from being acetylated, and the consequence is to silence HAT-dependent transcription. The encoded protein is part of a complex localized to the endoplasmic reticulum but is found in the nucleus and inhibits apoptosis following attack by cytotoxic T lymphocytes. This protein can also enhance DNA replication of the adenovirus genome. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in lymph node (RPKM 55.8), appendix (RPKM 46.5) and 25 other tissues See more Orthologs mouse all
SETBP1, Official Symbol SETBP1provided by HGNC Official Full Name SET binding protein 1provided by HGNC Primary source HGNC:HGNC:15573 See related Ensembl:ENSG00000152217 MIM:611060; AllianceGenome:HGNC:15573 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 SEB; MRD29 Summary This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in endometrium (RPKM 3.9), prostate (RPKM 3.6) and 25 other tissues See more Orthologs mouse all
SETBP1-DT, Official Symbol SETBP1-DTprovided by HGNC Official Full Name SETBP1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:54819 See related AllianceGenome:HGNC:54819 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 Annotation category: not annotated on reference assembly Expression Ubiquitous expression in prostate (RPKM 1.7), placenta (RPKM 1.2) and 24 other tissues See more
SETD1A, Official Symbol SETD1Aprovided by HGNC Official Full Name SET domain containing 1A, histone lysine methyltransferaseprovided by HGNC Primary source HGNC:HGNC:29010 See related Ensembl:ENSG00000099381 MIM:611052; AllianceGenome:HGNC:29010 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 Set1; EPEDD; EPEO2; KMT2F; Set1A; NEDSID Summary The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally mark the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily. [provided by RefSeq, Dec 2016] Expression Ubiquitous expression in testis (RPKM 10.6), bone marrow (RPKM 6.2) and 25 other tissues See more Orthologs mouse all
SETD1B, Official Symbol SETD1Bprovided by HGNC Official Full Name SET domain containing 1B, histone lysine methyltransferaseprovided by HGNC Primary source HGNC:HGNC:29187 See related Ensembl:ENSG00000139718 MIM:611055; AllianceGenome:HGNC:29187 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 KMT2G; Set1B; IDDSELD Summary SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in endometrium (RPKM 7.9), spleen (RPKM 6.1) and 25 other tissues See more Orthologs mouse all
SETD2, Official Symbol SETD2provided by HGNC Official Full Name SET domain containing 2, histone lysine methyltransferaseprovided by HGNC Primary source HGNC:HGNC:18420 See related Ensembl:ENSG00000181555 MIM:612778; AllianceGenome:HGNC:18420 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 LLS; HYPB; SET2; HIF-1; HIP-1; KMT3A; MRD70; RAPAS; HBP231; HSPC069; p231HBP Summary Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008] Expression Ubiquitous expression in bone marrow (RPKM 11.9), testis (RPKM 11.0) and 25 other tissues See more Orthologs mouse all
SETD3, Official Symbol SETD3provided by HGNC Official Full Name SET domain containing 3, actin N3(tau)-histidine methyltransferaseprovided by HGNC Primary source HGNC:HGNC:20493 See related Ensembl:ENSG00000183576 MIM:615671; AllianceGenome:HGNC:20493 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 hSETD3; C14orf154 Summary Enables protein-L-histidine N-tele-methyltransferase activity. Involved in actin modification and peptidyl-histidine methylation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 33.6), kidney (RPKM 26.5) and 25 other tissues See more Orthologs mouse all
SETD4, Official Symbol SETD4provided by HGNC Official Full Name SET domain containing 4provided by HGNC Primary source HGNC:HGNC:1258 See related Ensembl:ENSG00000185917 AllianceGenome:HGNC:1258 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 C21orf18; C21orf27 Summary Enables histone methyltransferase activity (H4-K20 specific). Involved in histone H4-K20 trimethylation. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 7.1), skin (RPKM 4.7) and 25 other tissues See more Orthologs mouse all
SETD5, Official Symbol SETD5provided by HGNC Official Full Name SET domain containing 5provided by HGNC Primary source HGNC:HGNC:25566 See related Ensembl:ENSG00000168137 MIM:615743; AllianceGenome:HGNC:25566 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 MRD23; SETD5A Summary This function of this gene has yet to be determined but based on sequence similarity to other SET domain proteins it may function as a histone methyltransferase. Mutations in this gene have been associated with an autosomal dominant form of intellectual disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in brain (RPKM 9.1), thyroid (RPKM 9.1) and 25 other tissues See more Orthologs mouse all
SETD6, Official Symbol SETD6provided by HGNC Official Full Name SET domain containing 6, protein lysine methyltransferaseprovided by HGNC Primary source HGNC:HGNC:26116 See related Ensembl:ENSG00000103037 MIM:616424; AllianceGenome:HGNC:26116 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 methyltransferase that adds a methyl group to the histone H2AZ, which is involved in nuclear receptor-dependent transcription. The protein also interacts with several endogenous proteins which are involved in nuclear hormone receptor signaling. A related pseudogene is located on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in testis (RPKM 13.6), skin (RPKM 9.3) and 25 other tissues See more Orthologs mouse all
SETD6P1, Official Symbol SETD6P1provided by HGNC Official Full Name SET domain containing 6 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51596 See related AllianceGenome:HGNC:51596 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SETD7, Official Symbol SETD7provided by HGNC Official Full Name SET domain containing 7, histone lysine methyltransferaseprovided by HGNC Primary source HGNC:HGNC:30412 See related Ensembl:ENSG00000145391 MIM:606594; AllianceGenome:HGNC:30412 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 KMT7; SET7; SET9; SET7/9 Summary Enables histone-lysine N-methyltransferase activity and p53 binding activity. Involved in peptidyl-lysine dimethylation and peptidyl-lysine monomethylation. Acts upstream of or within cellular response to DNA damage stimulus and heterochromatin organization. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 22.9), prostate (RPKM 16.7) and 24 other tissues See more Orthologs mouse all
SETD9, Official Symbol SETD9provided by HGNC Official Full Name SET domain containing 9provided by HGNC Primary source HGNC:HGNC:28508 See related Ensembl:ENSG00000155542 AllianceGenome:HGNC:28508 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 C5orf35 Summary Predicted to enable lysine N-methyltransferase activity. Predicted to be involved in regulation of signal transduction by p53 class mediator. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 3.4), colon (RPKM 1.3) and 25 other tissues See more Orthologs mouse all
SETDB1, Official Symbol SETDB1provided by HGNC Official Full Name SET domain bifurcated histone lysine methyltransferase 1provided by HGNC Primary source HGNC:HGNC:10761 See related Ensembl:ENSG00000143379 MIM:604396; AllianceGenome:HGNC:10761 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 ESET; KG1T; KMT1E; TDRD21; H3-K9-HMTase4 Summary This gene encodes a histone methyltransferase which regulates histone methylation, gene silencing, and transcriptional repression. This gene has been identified as a target for treatment in Huntington Disease, given that gene silencing and transcription dysfunction likely play a role in the disease pathogenesis. Alternatively spliced transcript variants of this gene have been described.[provided by RefSeq, Jun 2011] Expression Ubiquitous expression in testis (RPKM 14.6), spleen (RPKM 8.9) and 25 other tissues See more Orthologs mouse all
SETDB2, Official Symbol SETDB2provided by HGNC Official Full Name SET domain bifurcated histone lysine methyltransferase 2provided by HGNC Primary source HGNC:HGNC:20263 See related Ensembl:ENSG00000136169 MIM:607865; AllianceGenome:HGNC:20263 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 CLLD8; CLLL8; KMT1F; C13orf4 Summary This gene encodes a member of a family of proteins that contain a methyl-CpG-binding domain (MBD) and a SET domain and function as histone methyltransferases. This protein is recruited to heterochromatin and plays a role in the regulation of chromosome segregation. This region is commonly deleted in chronic lymphocytic leukemia. Naturally-occuring readthrough transcription occurs from this gene to the downstream PHF11 (PHD finger protein 11) gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in testis (RPKM 6.5), lymph node (RPKM 5.5) and 25 other tissues See more Orthologs mouse all
SETMAR, Official Symbol SETMARprovided by HGNC Official Full Name SET domain and mariner transposase fusion geneprovided by HGNC Primary source HGNC:HGNC:10762 See related Ensembl:ENSG00000170364 MIM:609834; AllianceGenome:HGNC:10762 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 Mar1; METNASE Summary This gene encodes a fusion protein that contains an N-terminal histone-lysine N-methyltransferase domain and a C-terminal mariner transposase domain. The encoded protein binds DNA and functions in DNA repair activities including non-homologous end joining and double strand break repair. The SET domain portion of this protein specifically methylates histone H3 lysines 4 and 36. This gene exists as a fusion gene only in anthropoid primates, other organisms lack mariner transposase domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] Expression Ubiquitous expression in ovary (RPKM 4.0), endometrium (RPKM 3.7) and 25 other tissues See more Orthologs mouse all
SETP11, Official Symbol SETP11provided by HGNC Official Full Name SET pseudogene 11provided by HGNC Primary source HGNC:HGNC:42930 See related Ensembl:ENSG00000239570 AllianceGenome:HGNC:42930 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SETP12, Official Symbol SETP12provided by HGNC Official Full Name SET pseudogene 12provided by HGNC Primary source HGNC:HGNC:42931 See related AllianceGenome:HGNC:42931 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SETP15, Official Symbol SETP15provided by HGNC Official Full Name SET pseudogene 15provided by HGNC Primary source HGNC:HGNC:42934 See related AllianceGenome:HGNC:42934 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SETP6, Official Symbol SETP6provided by HGNC Official Full Name SET pseudogene 6provided by HGNC Primary source HGNC:HGNC:42925 See related Ensembl:ENSG00000241319 AllianceGenome:HGNC:42925 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SETSIP, Official Symbol SETSIPprovided by HGNC Official Full Name SET like proteinprovided by HGNC Primary source HGNC:HGNC:42937 See related Ensembl:ENSG00000230667 AllianceGenome:HGNC:42937 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 SETP18 Summary Enables chromatin binding activity. Involved in endothelial cell differentiation and positive regulation of transcription by RNA polymerase II. Located in cytoplasm; lipid droplet; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
SETX, Official Symbol SETXprovided by HGNC Official Full Name senataxinprovided by HGNC Primary source HGNC:HGNC:445 See related Ensembl:ENSG00000107290 MIM:608465; AllianceGenome:HGNC:445 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 ALS4; AOA2; STEX; Sen1; SCAN2; SCAR1; bA479K20.2 Summary This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 20.6), testis (RPKM 18.7) and 24 other tissues See more Orthologs mouse all
SEZ6, Official Symbol SEZ6provided by HGNC Official Full Name seizure related 6 homologprovided by HGNC Primary source HGNC:HGNC:15955 See related Ensembl:ENSG00000063015 MIM:616666; AllianceGenome:HGNC:15955 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 BSRPC Summary The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016] Expression Restricted expression toward brain (RPKM 16.6) See more Orthologs mouse all
SEZ6L, Official Symbol SEZ6Lprovided by HGNC Official Full Name seizure related 6 homolog likeprovided by HGNC Primary source HGNC:HGNC:10763 See related Ensembl:ENSG00000100095 MIM:607021; AllianceGenome:HGNC:10763 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 SEZ6L1 Summary Predicted to act upstream of or within adult locomotory behavior; nervous system development; and regulation of protein kinase C signaling. Predicted to be located in endoplasmic reticulum and neuronal cell body. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 35.1) and adrenal (RPKM 5.4) See more Orthologs mouse all
SEZ6L-AS1, Official Symbol SEZ6L-AS1provided by HGNC Official Full Name SEZ6L antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40521 See related AllianceGenome:HGNC:40521 Gene type ncRNA RefSeq status MODEL 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
SEZ6L2, Official Symbol SEZ6L2provided by HGNC Official Full Name seizure related 6 homolog like 2provided by HGNC Primary source HGNC:HGNC:30844 See related Ensembl:ENSG00000174938 MIM:616667; AllianceGenome:HGNC:30844 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 BSRPA; PSK-1 Summary This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] Expression Broad expression in brain (RPKM 28.3), adrenal (RPKM 11.3) and 14 other tissues See more Orthologs mouse all
SF1, Official Symbol SF1provided by HGNC Official Full Name splicing factor 1provided by HGNC Primary source HGNC:HGNC:12950 See related Ensembl:ENSG00000168066 MIM:601516; AllianceGenome:HGNC:12950 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 BBP; MBBP; ZFM1; ZNF162; D11S636; ZCCHC25 Summary This gene encodes a nuclear pre-mRNA splicing factor. The encoded protein specifically recognizes the intron branch point sequence at the 3' splice site, together with the large subunit of U2 auxiliary factor (U2AF), and is required for the early stages of spliceosome assembly. It also plays a role in nuclear pre-mRNA retention and transcriptional repression. The encoded protein contains an N-terminal U2AF ligand motif, a central hnRNP K homology motif and quaking 2 region which bind a key branch-site adenosine within the branch point sequence, a zinc knuckles domain, and a C-terminal proline-rich domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016] Annotation information Note: SF1 (Gene ID: 7536) and NR5A1 (Gene ID: 2516) share the SF1 symbol/alias in common. SF1 is a widely used alternative name for nuclear receptor subfamily 5 group A member 1 (NR5A1), which can be confused with the official symbol for SF1 (splicing factor 1). [01 Jun 2018] Expression Ubiquitous expression in bone marrow (RPKM 62.1), testis (RPKM 36.4) and 25 other tissues See more Orthologs mouse all
SF3A1, Official Symbol SF3A1provided by HGNC Official Full Name splicing factor 3a subunit 1provided by HGNC Primary source HGNC:HGNC:10765 See related Ensembl:ENSG00000099995 MIM:605595; AllianceGenome:HGNC:10765 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 PRP21; PRPF21; SAP114; SF3A120 Summary This gene encodes a subunit of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer is a component of the mature U2 small nuclear ribonucleoprotein particle (snRNP). U2 small nuclear ribonucleoproteins play a critical role in spliceosome assembly and pre-mRNA splicing. [provided by RefSeq, Aug 2014] Expression Ubiquitous expression in testis (RPKM 34.4), ovary (RPKM 24.5) and 25 other tissues See more Orthologs mouse all
SF3A2, Official Symbol SF3A2provided by HGNC Official Full Name splicing factor 3a subunit 2provided by HGNC Primary source HGNC:HGNC:10766 See related Ensembl:ENSG00000104897 MIM:600796; AllianceGenome:HGNC:10766 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 PRP11; SAP62; PRPF11; SF3a66 Summary This gene encodes subunit 2 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 2 interacts with subunit 1 through its amino-terminus while the single zinc finger domain of subunit 2 plays a role in its binding to the 15S U2 snRNP. Subunit 2 may also function independently of its RNA splicing function as a microtubule-binding protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 28.5), ovary (RPKM 22.4) and 25 other tissues See more Orthologs mouse all
SF3A3, Official Symbol SF3A3provided by HGNC Official Full Name splicing factor 3a subunit 3provided by HGNC Primary source HGNC:HGNC:10767 See related Ensembl:ENSG00000183431 MIM:605596; AllianceGenome:HGNC:10767 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 PRP9; PRPF9; SAP61; SF3a60 Summary This gene encodes subunit 3 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 3 interacts with subunit 1 through its amino-terminus while the zinc finger domain of subunit 3 plays a role in its binding to the 15S U2 snRNP. This gene has a pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in bone marrow (RPKM 22.5), lymph node (RPKM 20.6) and 25 other tissues See more Orthologs mouse all
SF3A3P1, Official Symbol SF3A3P1provided by HGNC Official Full Name splicing factor 3a, subunit 3 pseudogene 1provided by HGNC Primary source HGNC:HGNC:16576 See related Ensembl:ENSG00000230568 AllianceGenome:HGNC:16576 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 SF3A3P; dJ581P3.1
SF3B1, Official Symbol SF3B1provided by HGNC Official Full Name splicing factor 3b subunit 1provided by HGNC Primary source HGNC:HGNC:10768 See related Ensembl:ENSG00000115524 MIM:605590; AllianceGenome:HGNC:10768 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 MDS; PRP10; Hsh155; PRPF10; SAP155; SF3b155 Summary This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 87.0), bone marrow (RPKM 86.7) and 25 other tissues See more Orthologs mouse all
SF3B2, Official Symbol SF3B2provided by HGNC Official Full Name splicing factor 3b subunit 2provided by HGNC Primary source HGNC:HGNC:10769 See related Ensembl:ENSG00000087365 MIM:605591; AllianceGenome:HGNC:10769 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 CFM; HFM; Cus1; SF3b1; SAP145; SF3B145; SF3b150 Summary This gene encodes subunit 2 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 2 associates with pre-mRNA upstream of the branch site at the anchoring site. Subunit 2 also interacts directly with subunit 4 of the splicing factor 3b complex. Subunit 2 is a highly hydrophilic protein with a proline-rich N-terminus and a glutamate-rich stretch in the C-terminus. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 65.1), ovary (RPKM 47.8) and 25 other tissues See more Orthologs mouse all
SF3B3, Official Symbol SF3B3provided by HGNC Official Full Name splicing factor 3b subunit 3provided by HGNC Primary source HGNC:HGNC:10770 See related Ensembl:ENSG00000189091 MIM:605592; AllianceGenome:HGNC:10770 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 RSE1; SAP130; SF3b130; STAF130 Summary This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 13.7), lymph node (RPKM 13.6) and 25 other tissues See more Orthologs mouse all
SF3B4, Official Symbol SF3B4provided by HGNC Official Full Name splicing factor 3b subunit 4provided by HGNC Primary source HGNC:HGNC:10771 See related Ensembl:ENSG00000143368 MIM:605593; AllianceGenome:HGNC:10771 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 AFD1; Hsh49; SAP49; SF3b49 Summary This gene encodes one of four subunits of the splicing factor 3B. The protein encoded by this gene cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes. In addition to RNA-binding activity, this protein interacts directly and highly specifically with subunit 2 of the splicing factor 3B. This protein contains two N-terminal RNA-recognition motifs (RRMs), consistent with the observation that it binds directly to pre-mRNA. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 26.0), bone marrow (RPKM 20.1) and 25 other tissues See more Orthologs mouse all
SF3B4P1, Official Symbol SF3B4P1provided by HGNC Official Full Name splicing factor 3b, subunit 4 pseudogene 1provided by HGNC Primary source HGNC:HGNC:19821 See related Ensembl:ENSG00000258988 AllianceGenome:HGNC:19821 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 SF3B4P