psui3905/ncbi_genes_summary huggingface dataset:
SAP25, Official Symbol SAP25provided by HGNC Official Full Name Sin3A associated protein 25provided by HGNC Primary source HGNC:HGNC:41908 See related Ensembl:ENSG00000205307 MIM:619230; AllianceGenome:HGNC:41908 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 be involved in regulation of transcription, DNA-templated. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in spleen (RPKM 17.5), lymph node (RPKM 8.4) and 20 other tissues See more Orthologs mouse all
SAP30, Official Symbol SAP30provided by HGNC Official Full Name Sin3A associated protein 30provided by HGNC Primary source HGNC:HGNC:10532 See related Ensembl:ENSG00000164105 MIM:603378; AllianceGenome:HGNC:10532 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 Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP18, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This complex is active in deacetylating core histone octamers, but inactive in deacetylating nucleosomal histones. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 10.9), stomach (RPKM 8.8) and 25 other tissues See more Orthologs mouse all
SAP30-DT, Official Symbol SAP30-DTprovided by HGNC Official Full Name SAP30 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:54424 See related Ensembl:ENSG00000272870 AllianceGenome:HGNC:54424 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 MIRE Expression Ubiquitous expression in ovary (RPKM 1.9), testis (RPKM 1.5) and 25 other tissues See more
SAP30BP, Official Symbol SAP30BPprovided by HGNC Official Full Name SAP30 binding proteinprovided by HGNC Primary source HGNC:HGNC:30785 See related Ensembl:ENSG00000161526 MIM:610218; AllianceGenome:HGNC:30785 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 HTRG; HTRP; HCNGP Summary Involved in modulation by host of symbiont transcription; positive regulation of histone deacetylation; and response to virus. Located in intermediate filament cytoskeleton and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 20.7), brain (RPKM 12.2) and 25 other tissues See more Orthologs mouse all
SAP30L, Official Symbol SAP30Lprovided by HGNC Official Full Name SAP30 likeprovided by HGNC Primary source HGNC:HGNC:25663 See related Ensembl:ENSG00000164576 MIM:610398; AllianceGenome:HGNC:25663 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 NS4ATP2 Summary Enables several functions, including non-sequence-specific DNA binding activity, bending; phosphatidylinositol phosphate binding activity; and zinc ion binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in fibrillar center and nucleoplasm. Part of histone deacetylase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 11.8), endometrium (RPKM 9.2) and 25 other tissues See more Orthologs mouse all
SAP30L-AS1, Official Symbol SAP30L-AS1provided by HGNC Official Full Name SAP30L antisense RNA 1 (head to head)provided by HGNC Primary source HGNC:HGNC:26760 See related Ensembl:ENSG00000245275 AllianceGenome:HGNC:26760 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 GALNT10-AS1 Expression Low expression observed in reference dataset See more
SAPCD1, Official Symbol SAPCD1provided by HGNC Official Full Name suppressor APC domain containing 1provided by HGNC Primary source HGNC:HGNC:13938 See related Ensembl:ENSG00000228727 AllianceGenome:HGNC:13938 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 NG23; C6orf26 Expression Ubiquitous expression in skin (RPKM 10.2), bone marrow (RPKM 6.0) and 24 other tissues See more Orthologs mouse all
SAPCD2, Official Symbol SAPCD2provided by HGNC Official Full Name suppressor APC domain containing 2provided by HGNC Primary source HGNC:HGNC:28055 See related Ensembl:ENSG00000186193 MIM:612057; AllianceGenome:HGNC:28055 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 p42.3; C9orf140 Summary Involved in negative regulation of protein localization to cell cortex and positive regulation of cell population proliferation. Located in several cellular components, including apical cortex; apical junction complex; and nuclear lumen. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 4.5), colon (RPKM 2.8) and 17 other tissues See more Orthologs mouse all
SAPCD2P2, Official Symbol SAPCD2P2provided by HGNC Official Full Name suppressor APC domain containing 2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:51278 See related Ensembl:ENSG00000235368 AllianceGenome:HGNC:51278 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SAPCD2P4, Official Symbol SAPCD2P4provided by HGNC Official Full Name suppressor APC domain containing 2 pseudogene 4provided by HGNC Primary source HGNC:HGNC:51280 See related Ensembl:ENSG00000234312 AllianceGenome:HGNC:51280 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SAR1A, Official Symbol SAR1Aprovided by HGNC Official Full Name secretion associated Ras related GTPase 1Aprovided by HGNC Primary source HGNC:HGNC:10534 See related Ensembl:ENSG00000079332 MIM:607691; AllianceGenome:HGNC:10534 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 SAR1; Sara; SARA1; masra2 Summary Predicted to enable GTPase activity. Involved in COPII-coated vesicle cargo loading. Part of COPII vesicle coat. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 47.2), placenta (RPKM 41.9) and 25 other tissues See more Orthologs mouse all
SAR1AP1, Official Symbol SAR1AP1provided by HGNC Official Full Name secretion associated Ras related GTPase 1A pseudogene 1provided by HGNC Primary source HGNC:HGNC:13983 See related AllianceGenome:HGNC:13983 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 SARAP; SAR1P1; SARAP1; dJ88J8.3; hsSARA-p
SAR1AP2, Official Symbol SAR1AP2provided by HGNC Official Full Name secretion associated Ras related GTPase 1A pseudogene 2provided by HGNC Primary source HGNC:HGNC:20770 See related AllianceGenome:HGNC:20770 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 SAR1P2; SARA1P
SAR1B, Official Symbol SAR1Bprovided by HGNC Official Full Name secretion associated Ras related GTPase 1Bprovided by HGNC Primary source HGNC:HGNC:10535 See related Ensembl:ENSG00000152700 MIM:607690; AllianceGenome:HGNC:10535 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 ANDD; CMRD; GTBPB; SARA2 Summary The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010] Expression Ubiquitous expression in liver (RPKM 17.3), small intestine (RPKM 16.1) and 25 other tissues See more Orthologs mouse all
SARAF, Official Symbol SARAFprovided by HGNC Official Full Name store-operated calcium entry associated regulatory factorprovided by HGNC Primary source HGNC:HGNC:28789 See related Ensembl:ENSG00000133872 MIM:614768; AllianceGenome:HGNC:28789 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 XTP3; FOAP-7; TMEM66; HSPC035 Summary Involved in regulation of store-operated calcium entry. Located in endoplasmic reticulum and endoplasmic reticulum-plasma membrane contact site. Is integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 148.3), adrenal (RPKM 121.7) and 25 other tissues See more Orthologs mouse all
SARDH, Official Symbol SARDHprovided by HGNC Official Full Name sarcosine dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:10536 See related Ensembl:ENSG00000123453 MIM:604455; AllianceGenome:HGNC:10536 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 SAR; SDH; SARD; BPR-2; DMGDHL1 Summary This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008] Expression Biased expression in liver (RPKM 15.5), kidney (RPKM 6.4) and 6 other tissues See more Orthologs mouse all
SARM1, Official Symbol SARM1provided by HGNC Official Full Name sterile alpha and TIR motif containing 1provided by HGNC Primary source HGNC:HGNC:17074 See related Ensembl:ENSG00000004139 MIM:607732; AllianceGenome:HGNC:17074 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 SARM; HsTIR; SAMD2; hSARM1; MyD88-5 Summary Enables NAD+ nucleotidase, cyclic ADP-ribose generating and identical protein binding activity. Involved in NAD catabolic process; positive regulation of neuron death; and response to axon injury. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in duodenum (RPKM 30.5), small intestine (RPKM 14.6) and 23 other tissues See more Orthologs mouse all
SARNP, Official Symbol SARNPprovided by HGNC Official Full Name SAP domain containing ribonucleoproteinprovided by HGNC Primary source HGNC:HGNC:24432 See related Ensembl:ENSG00000205323 MIM:610049; AllianceGenome:HGNC:24432 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 HCC1; THO1; CIP29; HSPC316 Summary This gene encodes a protein that is upregulated in response to various cytokines. The encoded protein may play a role in cell cycle progression. A translocation between this gene and the myeloid/lymphoid leukemia gene, resulting in expression of a chimeric protein, has been associated with acute myelomonocytic leukemia. Pseudogenes exist on chromosomes 7 and 8. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] Expression Ubiquitous expression in testis (RPKM 27.2), endometrium (RPKM 26.0) and 25 other tissues See more Orthologs mouse all
SARS1, Official Symbol SARS1provided by HGNC Official Full Name seryl-tRNA synthetase 1provided by HGNC Primary source HGNC:HGNC:10537 See related Ensembl:ENSG00000031698 MIM:607529; AllianceGenome:HGNC:10537 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 SARS; SERS; SERRS; NEDMAS Summary This gene belongs to the class II amino-acyl tRNA family. The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser) and is related to bacterial and yeast counterparts. Multiple alternatively spliced transcript variants have been described but the biological validity of all variants is unknown. [provided by RefSeq, Jul 2010] Expression Ubiquitous expression in thyroid (RPKM 44.0), brain (RPKM 25.3) and 25 other tissues See more Orthologs mouse all
SARS2, Official Symbol SARS2provided by HGNC Official Full Name seryl-tRNA synthetase 2, mitochondrialprovided by HGNC Primary source HGNC:HGNC:17697 See related Ensembl:ENSG00000104835 MIM:612804; AllianceGenome:HGNC:17697 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 SYS; SARS; SERS; SARSM; SerRS; SerRSmt; mtSerRS Summary This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009] Expression Ubiquitous expression in thyroid (RPKM 6.7), placenta (RPKM 5.6) and 25 other tissues See more Orthologs mouse all
SART1, Official Symbol SART1provided by HGNC Official Full Name spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNPprovided by HGNC Primary source HGNC:HGNC:10538 See related Ensembl:ENSG00000175467 MIM:605941; AllianceGenome:HGNC:10538 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 HAF; Ara1; HOMS1; Snu66; SART1259; SNRNP110 Summary This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumor-rejection antigens. The SART1(259) protein possesses tumor epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 16.1), spleen (RPKM 14.5) and 25 other tissues See more Orthologs mouse all
SART3, Official Symbol SART3provided by HGNC Official Full Name spliceosome associated factor 3, U4/U6 recycling proteinprovided by HGNC Primary source HGNC:HGNC:16860 See related Ensembl:ENSG00000075856 MIM:611684; AllianceGenome:HGNC:16860 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 P100; p110; DSAP1; TIP110; p110(nrb); RP11-13G14 Summary The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is found to be an important cellular factor for HIV-1 gene expression and viral replication. It also associates transiently with U6 and U4/U6 snRNPs during the recycling phase of the spliceosome cycle. This encoded protein is thought to be involved in the regulation of mRNA splicing. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 12.7), lymph node (RPKM 12.3) and 25 other tissues See more Orthologs mouse all
SASH1, Official Symbol SASH1provided by HGNC Official Full Name SAM and SH3 domain containing 1provided by HGNC Primary source HGNC:HGNC:19182 See related Ensembl:ENSG00000111961 MIM:607955; AllianceGenome:HGNC:19182 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 DUH; DUH1; CAPOK; SH3D6A; dJ323M4.1 Summary This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor that may negatively regulate proliferation, apoptosis, and invasion of cancer cells, and reduced expression of this gene has been observed in multiple human cancers. Mutations in this gene may be associated with abnormal skin pigmentation in human patients. [provided by RefSeq, Oct 2016] Expression Broad expression in esophagus (RPKM 20.2), fat (RPKM 19.4) and 23 other tissues See more Orthologs mouse all
SASH3, Official Symbol SASH3provided by HGNC Official Full Name SAM and SH3 domain containing 3provided by HGNC Primary source HGNC:HGNC:15975 See related Ensembl:ENSG00000122122 MIM:300441; AllianceGenome:HGNC:15975 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 SLY; 753P9; HACS2; CXorf9; IMD102; SH3D6C Summary The protein encoded by this gene contains a Src homology-3 (SH3) domain and a sterile alpha motif (SAM), both of which are found in proteins involved in cell signaling. This protein may function as a signaling adapter protein in lymphocytes.[provided by RefSeq, Sep 2009] Expression Biased expression in lymph node (RPKM 60.1), spleen (RPKM 41.7) and 11 other tissues See more Orthologs mouse all
SASS6, Official Symbol SASS6provided by HGNC Official Full Name SAS-6 centriolar assembly proteinprovided by HGNC Primary source HGNC:HGNC:25403 See related Ensembl:ENSG00000156876 MIM:609321; AllianceGenome:HGNC:25403 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 SAS6; SAS-6; MCPH14 Summary The protein encoded by this gene is a central component of centrioles and is necessary for their duplication and function. Centrioles adopt a cartwheel-shaped structure, with the encoded protein forming the hub and spokes inside a microtubule cylinder. Defects in this gene are a cause of autosomal recessive primary microcephaly. [provided by RefSeq, Oct 2016] Expression Ubiquitous expression in bone marrow (RPKM 6.8), testis (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
SAT1, Official Symbol SAT1provided by HGNC Official Full Name spermidine/spermine N1-acetyltransferase 1provided by HGNC Primary source HGNC:HGNC:10540 See related Ensembl:ENSG00000130066 MIM:313020; AllianceGenome:HGNC:10540 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 SAT; DC21; KFSD; SSAT; KFSDX; SSAT-1 Summary The protein encoded by this gene belongs to the acetyltransferase family, and is a rate-limiting enzyme in the catabolic pathway of polyamine metabolism. It catalyzes the acetylation of spermidine and spermine, and is involved in the regulation of the intracellular concentration of polyamines and their transport out of cells. Defects in this gene are associated with keratosis follicularis spinulosa decalvans (KFSD). Alternatively spliced transcripts have been found for this gene.[provided by RefSeq, Sep 2009] Expression Ubiquitous expression in bone marrow (RPKM 336.5), thyroid (RPKM 226.9) and 24 other tissues See more Orthologs mouse all
SAT2, Official Symbol SAT2provided by HGNC Official Full Name spermidine/spermine N1-acetyltransferase family member 2provided by HGNC Primary source HGNC:HGNC:23160 See related Ensembl:ENSG00000141504 MIM:611463; AllianceGenome:HGNC:23160 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 SSAT2; SSAT-2 Summary Enables diamine N-acetyltransferase activity and identical protein binding activity. Involved in polyamine metabolic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 97.2), duodenum (RPKM 89.6) and 25 other tissues See more Orthologs mouse all
SATB1, Official Symbol SATB1provided by HGNC Official Full Name SATB homeobox 1provided by HGNC Primary source HGNC:HGNC:10541 See related Ensembl:ENSG00000182568 MIM:602075; AllianceGenome:HGNC:10541 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 DEFDA; DHDBV; KTZSL Summary This gene encodes a matrix protein which binds nuclear matrix and scaffold-associating DNAs through a unique nuclear architecture. The protein recruits chromatin-remodeling factors in order to regulate chromatin structure and gene expression. [provided by RefSeq, Apr 2016] Expression Ubiquitous expression in brain (RPKM 10.9), lymph node (RPKM 7.3) and 25 other tissues See more Orthologs mouse all
SATB2, Official Symbol SATB2provided by HGNC Official Full Name SATB homeobox 2provided by HGNC Primary source HGNC:HGNC:21637 See related Ensembl:ENSG00000119042 MIM:608148; AllianceGenome:HGNC:21637 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 GLSS; DEL2Q32Q33; C2DELq32q33 Summary This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated with isolated cleft palate and cognitive disability. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Feb 2010] Expression Biased expression in colon (RPKM 13.7), brain (RPKM 6.3) and 7 other tissues See more Orthologs mouse all
SATB2-AS1, Official Symbol SATB2-AS1provided by HGNC Official Full Name SATB2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:26490 See related Ensembl:ENSG00000225953 AllianceGenome:HGNC:26490 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in colon (RPKM 4.3), appendix (RPKM 0.8) and 2 other tissues See more
SATL1, Official Symbol SATL1provided by HGNC Official Full Name spermidine/spermine N1-acetyl transferase like 1provided by HGNC Primary source HGNC:HGNC:27992 See related Ensembl:ENSG00000184788 AllianceGenome:HGNC:27992 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 N-acetyltransferase activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 7.8), fat (RPKM 5.5) and 25 other tissues See more Orthologs mouse all
SAV1, Official Symbol SAV1provided by HGNC Official Full Name salvador family WW domain containing protein 1provided by HGNC Primary source HGNC:HGNC:17795 See related Ensembl:ENSG00000151748 MIM:607203; AllianceGenome:HGNC:17795 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 SAV; WW45; WWP4 Summary WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein with two WW domains, a SARAH domain, and a coiled-coil region and is ubiquitously expressed in adult tissues. This protein binds to MST1 (mammalian sterile 20-like kinase 1) and promotes MST1-induced apoptosis. It has also been shown to bind to HAX1 (hematopoietic cell-specific protein 1 (HS1)-associated protein X-1) and to attenuate the anti-apoptotic effects of HAX1. Studies in human and mouse suggest this gene acts as a tumor suppressor. [provided by RefSeq, Aug 2012] Expression Ubiquitous expression in thyroid (RPKM 16.7), testis (RPKM 15.2) and 25 other tissues See more Orthologs mouse all
SAXO1, Official Symbol SAXO1provided by HGNC Official Full Name stabilizer of axonemal microtubules 1provided by HGNC Primary source HGNC:HGNC:28566 See related Ensembl:ENSG00000155875 MIM:616292; AllianceGenome:HGNC:28566 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 FAM154A; C9orf138 Summary Enables microtubule binding activity. Involved in several processes, including cold acclimation; positive regulation of cilium assembly; and protein stabilization. Located in microtubule cytoskeleton and sperm flagellum. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 15.1) See more Orthologs mouse all
SAXO2, Official Symbol SAXO2provided by HGNC Official Full Name stabilizer of axonemal microtubules 2provided by HGNC Primary source HGNC:HGNC:33727 See related Ensembl:ENSG00000188659 AllianceGenome:HGNC:33727 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 FAM154B Summary Predicted to enable microtubule binding activity. Predicted to be involved in microtubule anchoring. Predicted to be active in microtubule cytoskeleton; nucleus; and sperm flagellum. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lung (RPKM 3.6), testis (RPKM 1.5) and 13 other tissues See more Orthologs mouse all
SAYSD1, Official Symbol SAYSD1provided by HGNC Official Full Name SAYSVFN motif domain containing 1provided by HGNC Primary source HGNC:HGNC:21025 See related Ensembl:ENSG00000112167 AllianceGenome:HGNC:21025 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 C6orf64 Summary Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 17.8), thyroid (RPKM 3.3) and 24 other tissues See more Orthologs mouse all
SBDS, Official Symbol SBDSprovided by HGNC Official Full Name SBDS ribosome maturation factorprovided by HGNC Primary source HGNC:HGNC:19440 See related Ensembl:ENSG00000126524 MIM:607444; AllianceGenome:HGNC:19440 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 SDS; SDO1; SWDS; CGI-97 Summary This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017] Expression Ubiquitous expression in heart (RPKM 89.6), fat (RPKM 75.8) and 25 other tissues See more Orthologs mouse all
SBF1, Official Symbol SBF1provided by HGNC Official Full Name SET binding factor 1provided by HGNC Primary source HGNC:HGNC:10542 See related Ensembl:ENSG00000100241 MIM:603560; AllianceGenome:HGNC:10542 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 MTMR5; CMT4B3; DENND7A Summary This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014] Expression Broad expression in testis (RPKM 38.3), brain (RPKM 19.4) and 24 other tissues See more Orthologs mouse all
SBF1P1, Official Symbol SBF1P1provided by HGNC Official Full Name SET binding factor 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:31098 See related Ensembl:ENSG00000248522 AllianceGenome:HGNC:31098 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SBF1P2, Official Symbol SBF1P2provided by HGNC Official Full Name SBF1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:54552 See related Ensembl:ENSG00000224904 AllianceGenome:HGNC:54552 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SBF2, Official Symbol SBF2provided by HGNC Official Full Name SET binding factor 2provided by HGNC Primary source HGNC:HGNC:2135 See related Ensembl:ENSG00000133812 MIM:607697; AllianceGenome:HGNC:2135 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 CMT4B2; MTMR13; DENND7B Summary This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 7.7), fat (RPKM 7.5) and 25 other tissues See more Orthologs mouse all
SBF2-AS1, Official Symbol SBF2-AS1provided by HGNC Official Full Name SBF2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:27438 See related Ensembl:ENSG00000246273 AllianceGenome:HGNC:27438 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 Ubiquitous expression in thyroid (RPKM 2.5), kidney (RPKM 2.1) and 25 other tissues See more
SBK1, Official Symbol SBK1provided by HGNC Official Full Name SH3 domain binding kinase 1provided by HGNC Primary source HGNC:HGNC:17699 See related Ensembl:ENSG00000188322 MIM:620212; AllianceGenome:HGNC:17699 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 SBK Summary Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in peptidyl-serine phosphorylation and peptidyl-threonine phosphorylation. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 3.9), prostate (RPKM 1.1) and 16 other tissues See more Orthologs mouse all
SBK2, Official Symbol SBK2provided by HGNC Official Full Name SH3 domain binding kinase family member 2provided by HGNC Primary source HGNC:HGNC:34416 See related Ensembl:ENSG00000187550 MIM:620414; AllianceGenome:HGNC:34416 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 SGK069 Summary Predicted to enable MAP kinase kinase activity. Predicted to be involved in MAPK cascade and protein phosphorylation. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward heart (RPKM 14.0) See more Orthologs mouse all
SBK3, Official Symbol SBK3provided by HGNC Official Full Name SH3 domain binding kinase family member 3provided by HGNC Primary source HGNC:HGNC:44121 See related Ensembl:ENSG00000231274 AllianceGenome:HGNC:44121 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 SGK110 Summary Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in protein phosphorylation. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in heart (RPKM 5.3), fat (RPKM 0.8) and 1 other tissue See more Orthologs mouse all
SBNO1, Official Symbol SBNO1provided by HGNC Official Full Name strawberry notch homolog 1provided by HGNC Primary source HGNC:HGNC:22973 See related Ensembl:ENSG00000139697 MIM:614274; AllianceGenome:HGNC:22973 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 Sno; MOP3 Summary Predicted to enable chromatin DNA binding activity and histone binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 27.6), thyroid (RPKM 6.9) and 23 other tissues See more Orthologs mouse all
SBNO1-AS1, Official Symbol SBNO1-AS1provided by HGNC Official Full Name SBNO1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:54355 See related Ensembl:ENSG00000256092 AllianceGenome:HGNC:54355 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SBNO2, Official Symbol SBNO2provided by HGNC Official Full Name strawberry notch homolog 2provided by HGNC Primary source HGNC:HGNC:29158 See related Ensembl:ENSG00000064932 MIM:615729; AllianceGenome:HGNC:29158 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 SNO; STNO; KIAA0963 Summary Predicted to enable chromatin DNA binding activity and histone binding activity. Involved in several processes, including cellular response to interleukin-6; macrophage activation involved in immune response; and negative regulation of transcription, DNA-templated. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in appendix (RPKM 17.5), spleen (RPKM 13.1) and 25 other tissues See more Orthologs mouse all
SBSN, Official Symbol SBSNprovided by HGNC Official Full Name suprabasinprovided by HGNC Primary source HGNC:HGNC:24950 See related Ensembl:ENSG00000189001 MIM:609969; AllianceGenome:HGNC:24950 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 UNQ698 Summary Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward skin (RPKM 753.6) See more Orthologs mouse all
SBSPON, Official Symbol SBSPONprovided by HGNC Official Full Name somatomedin B and thrombospondin type 1 domain containingprovided by HGNC Primary source HGNC:HGNC:30362 See related Ensembl:ENSG00000164764 AllianceGenome:HGNC:30362 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 RPESP; C8orf84 Summary Predicted to be an extracellular matrix structural constituent. Colocalizes with collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in urinary bladder (RPKM 8.0), prostate (RPKM 7.0) and 19 other tissues See more Orthologs mouse all
SC4MOP, Official Symbol SC4MOPprovided by HGNC Official Full Name sterol-C4-methyl oxidase pseudogeneprovided by HGNC Primary source HGNC:HGNC:10546 See related AllianceGenome:HGNC:10546 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 DESP4P1
SC5D, Official Symbol SC5Dprovided by HGNC Official Full Name sterol-C5-desaturaseprovided by HGNC Primary source HGNC:HGNC:10547 See related Ensembl:ENSG00000109929 MIM:602286; AllianceGenome:HGNC:10547 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 ERG3; S5DES; SC5DL Summary This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in liver (RPKM 29.7), prostate (RPKM 24.2) and 23 other tissues See more Orthologs mouse all
SCAANT1, Official Symbol SCAANT1provided by HGNC Official Full Name SCA7/ATXN7 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:43718 See related Ensembl:ENSG00000280620 MIM:614481; AllianceGenome:HGNC:43718 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 ATXN7-AS1
SCAF1, Official Symbol SCAF1provided by HGNC Official Full Name SR-related CTD associated factor 1provided by HGNC Primary source HGNC:HGNC:30403 See related Ensembl:ENSG00000126461 MIM:617264; AllianceGenome:HGNC:30403 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 SRA1 Summary Enables RNA polymerase II C-terminal domain binding activity. Predicted to be involved in RNA splicing; mRNA processing; and transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 11.1), brain (RPKM 11.1) and 25 other tissues See more Orthologs mouse all
SCAF11, Official Symbol SCAF11provided by HGNC Official Full Name SR-related CTD associated factor 11provided by HGNC Primary source HGNC:HGNC:10784 See related Ensembl:ENSG00000139218 MIM:603668; AllianceGenome:HGNC:10784 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 SIP1; CASP11; SFRS2IP; SRRP129; SRSF2IP Summary Enables RNA binding activity. Involved in spliceosomal complex assembly. Located in nuclear body and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 15.2), appendix (RPKM 14.4) and 25 other tissues See more Orthologs mouse all
SCAF4, Official Symbol SCAF4provided by HGNC Official Full Name SR-related CTD associated factor 4provided by HGNC Primary source HGNC:HGNC:19304 See related Ensembl:ENSG00000156304 MIM:616023; AllianceGenome:HGNC:19304 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 SRA4; SFRS15 Summary This gene likely encodes a member of the arginine/serine-rich splicing factor family. A similar protein in Rat appears to bind the large subunit of RNA polymerase II and provide a link between transcription and pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] Expression Ubiquitous expression in testis (RPKM 12.8), lymph node (RPKM 10.5) and 25 other tissues See more Orthologs mouse all
SCAF8, Official Symbol SCAF8provided by HGNC Official Full Name SR-related CTD associated factor 8provided by HGNC Primary source HGNC:HGNC:20959 See related Ensembl:ENSG00000213079 MIM:616024; AllianceGenome:HGNC:20959 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 RBM16 Summary Enables RNA binding activity and RNA polymerase II C-terminal domain phosphoserine binding activity. Involved in negative regulation of termination of RNA polymerase II transcription, poly(A)-coupled and positive regulation of DNA-templated transcription, elongation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 16.9), bone marrow (RPKM 14.1) and 25 other tissues See more Orthologs mouse all
SCAI, Official Symbol SCAIprovided by HGNC Official Full Name suppressor of cancer cell invasionprovided by HGNC Primary source HGNC:HGNC:26709 See related Ensembl:ENSG00000173611 MIM:619222; AllianceGenome:HGNC:26709 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 NET40; C9orf126 Summary This gene encodes a regulator of cell migration. The encoded protein appears to function in the RhoA (ras homolog gene family, member A)-Dia1 (diaphanous homolog 1) signal transduction pathway. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] Expression Ubiquitous expression in brain (RPKM 4.6), lung (RPKM 2.0) and 24 other tissues See more Orthologs mouse all