psui3905/ncbi_genes_summary huggingface dataset:
SF3B5, Official Symbol SF3B5provided by HGNC Official Full Name splicing factor 3b subunit 5provided by HGNC Primary source HGNC:HGNC:21083 See related Ensembl:ENSG00000169976 MIM:617847; AllianceGenome:HGNC:21083 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 Ysf3; SF3b10 Summary Enables RNA binding activity and splicing factor binding activity. Involved in mRNA splicing, via spliceosome. Located in nucleoplasm. Part of U12-type spliceosomal complex and U2-type precatalytic spliceosome. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
SF3B6, Official Symbol SF3B6provided by HGNC Official Full Name splicing factor 3b subunit 6provided by HGNC Primary source HGNC:HGNC:30096 See related Ensembl:ENSG00000115128 MIM:607835; AllianceGenome:HGNC:30096 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 P14; Ht006; SAP14; SAP14a; SF3B14; CGI-110; HSPC175; SF3B14a Summary This gene encodes a 14 kDa protein subunit of the splicing factor 3b complex. Splicing factor 3b associates with both the U2 and U11/U12 small nuclear ribonucleoprotein complexes (U2 snRNP) of spliceosomes. This 14 kDa protein interacts directly with subunit 1 of the splicing factor 3b complex. This 14 kDa protein also interacts directly with the adenosine that carries out the first transesterification step of splicing at the pre-mRNA branch site. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 53.9), colon (RPKM 39.5) and 25 other tissues See more Orthologs mouse all
SFI1, Official Symbol SFI1provided by HGNC Official Full Name SFI1 centrin binding proteinprovided by HGNC Primary source HGNC:HGNC:29064 See related Ensembl:ENSG00000198089 MIM:612765; AllianceGenome:HGNC:29064 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 PISD; hSfi1p; PPP1R139 Summary Enables phosphatase binding activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lymph node (RPKM 6.7), spleen (RPKM 6.6) and 25 other tissues See more Orthologs mouse all
SFMBT1, Official Symbol SFMBT1provided by HGNC Official Full Name Scm like with four mbt domains 1provided by HGNC Primary source HGNC:HGNC:20255 See related Ensembl:ENSG00000163935 MIM:607319; AllianceGenome:HGNC:20255 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 RU1; SFMBT; hSFMBT Summary This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition. [provided by RefSeq, Jun 2012] Expression Broad expression in testis (RPKM 14.1), kidney (RPKM 2.6) and 24 other tissues See more Orthologs mouse all
SFMBT2, Official Symbol SFMBT2provided by HGNC Official Full Name Scm like with four mbt domains 2provided by HGNC Primary source HGNC:HGNC:20256 See related Ensembl:ENSG00000198879 MIM:615392; AllianceGenome:HGNC:20256 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables histone binding activity. Involved in negative regulation of gene expression. Located in aggresome; cytosol; and nuclear speck. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 4.8), ovary (RPKM 4.5) and 24 other tissues See more Orthologs mouse all
SFN, Official Symbol SFNprovided by HGNC Official Full Name stratifinprovided by HGNC Primary source HGNC:HGNC:10773 See related Ensembl:ENSG00000175793 MIM:601290; AllianceGenome:HGNC:10773 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 YWHAS Summary This gene encodes a cell cycle checkpoint protein. The encoded protein binds to translation and initiation factors and functions as a regulator of mitotic translation. In response to DNA damage this protein plays a role in preventing DNA errors during mitosis. [provided by RefSeq, Aug 2017] Orthologs mouse all
SFPQ, Official Symbol SFPQprovided by HGNC Official Full Name splicing factor proline and glutamine richprovided by HGNC Primary source HGNC:HGNC:10774 See related Ensembl:ENSG00000116560 MIM:605199; AllianceGenome:HGNC:10774 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 PSF; POMP100; PPP1R140 Summary Enables DNA binding activity; histone deacetylase binding activity; and protein homodimerization activity. Involved in several processes, including alternative mRNA splicing, via spliceosome; positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway; and regulation of transcription by RNA polymerase II. Acts upstream of or within double-strand break repair via homologous recombination. Located in chromatin; nuclear matrix; and paraspeckles. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 84.2), skin (RPKM 34.9) and 25 other tissues See more Orthologs mouse all
SFR1, Official Symbol SFR1provided by HGNC Official Full Name SWI5 dependent homologous recombination repair protein 1provided by HGNC Primary source HGNC:HGNC:29574 See related Ensembl:ENSG00000156384 MIM:616527; AllianceGenome:HGNC:29574 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 MEI5; MEIR5; C10orf78; bA373N18.1 Summary Enables nuclear receptor coactivator activity. Involved in cellular response to estrogen stimulus; double-strand break repair via homologous recombination; and positive regulation of transcription, DNA-templated. Located in nucleus. Part of Swi5-Sfr1 complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 6.8), appendix (RPKM 2.8) and 25 other tissues See more Orthologs mouse all
SFRP1, Official Symbol SFRP1provided by HGNC Official Full Name secreted frizzled related protein 1provided by HGNC Primary source HGNC:HGNC:10776 See related Ensembl:ENSG00000104332 MIM:604156; AllianceGenome:HGNC:10776 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 FRP; FRP1; FrzA; FRP-1; SARP2 Summary This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. Members of this family act as soluble modulators of Wnt signaling; epigenetic silencing of SFRP genes leads to deregulated activation of the Wnt-pathway which is associated with cancer. This gene may also be involved in determining the polarity of photoreceptor cells in the retina. [provided by RefSeq, Sep 2009] Expression Broad expression in endometrium (RPKM 97.0), fat (RPKM 58.4) and 17 other tissues See more Orthologs mouse all
SFRP2, Official Symbol SFRP2provided by HGNC Official Full Name secreted frizzled related protein 2provided by HGNC Primary source HGNC:HGNC:10777 See related Ensembl:ENSG00000145423 MIM:604157; AllianceGenome:HGNC:10777 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 FRP-2; SARP1; SDF-5 Summary This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. Methylation of this gene is a potential marker for the presence of colorectal cancer. [provided by RefSeq, Jul 2008] Expression Biased expression in urinary bladder (RPKM 276.9), gall bladder (RPKM 211.4) and 9 other tissues See more Orthologs mouse all
SFRP4, Official Symbol SFRP4provided by HGNC Official Full Name secreted frizzled related protein 4provided by HGNC Primary source HGNC:HGNC:10778 See related Ensembl:ENSG00000106483 MIM:606570; AllianceGenome:HGNC:10778 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 PYL; FRP-4; FRPHE; FRZB-2; sFRP-4 Summary Secreted frizzled-related protein 4 (SFRP4) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. The expression of SFRP4 in ventricular myocardium correlates with apoptosis related gene expression. [provided by RefSeq, Jul 2008] Expression Biased expression in endometrium (RPKM 325.1), ovary (RPKM 49.6) and 1 other tissue See more Orthologs mouse all
SFRP5, Official Symbol SFRP5provided by HGNC Official Full Name secreted frizzled related protein 5provided by HGNC Primary source HGNC:HGNC:10779 See related Ensembl:ENSG00000120057 MIM:604158; AllianceGenome:HGNC:10779 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 SARP3 Summary Secreted frizzled-related protein 5 (SFRP5) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. SFRP5 and SFRP1 may be involved in determining the polarity of photoreceptor cells in the retina. SFRP5 is highly expressed in the retinal pigment epithelium, and moderately expressed in the pancreas. [provided by RefSeq, Jul 2008] Expression Biased expression in pancreas (RPKM 17.7), duodenum (RPKM 13.1) and 9 other tissues See more Orthologs mouse all
SFSWAP, Official Symbol SFSWAPprovided by HGNC Official Full Name splicing factor SWAPprovided by HGNC Primary source HGNC:HGNC:10790 See related Ensembl:ENSG00000061936 MIM:601945; AllianceGenome:HGNC:10790 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 SWAP; SFRS8 Summary This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Two transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012] Expression Ubiquitous expression in bone marrow (RPKM 11.1), spleen (RPKM 9.4) and 25 other tissues See more Orthologs mouse all
SFT2D1, Official Symbol SFT2D1provided by HGNC Official Full Name SFT2 domain containing 1provided by HGNC Primary source HGNC:HGNC:21102 See related Ensembl:ENSG00000198818 AllianceGenome:HGNC:21102 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 pRGR1; C6orf83 Summary Predicted to be involved in protein transport and vesicle-mediated transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 27.1), colon (RPKM 26.8) and 25 other tissues See more Orthologs mouse all
SFT2D2, Official Symbol SFT2D2provided by HGNC Official Full Name SFT2 domain containing 2provided by HGNC Primary source HGNC:HGNC:25140 See related Ensembl:ENSG00000213064 AllianceGenome:HGNC:25140 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 UNQ512; dJ747L4.C1.2 Summary Predicted to be involved in protein transport and vesicle-mediated transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 9.9), bone marrow (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
SFT2D3, Official Symbol SFT2D3provided by HGNC Official Full Name SFT2 domain containing 3provided by HGNC Primary source HGNC:HGNC:28767 See related Ensembl:ENSG00000173349 AllianceGenome:HGNC:28767 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 protein transport and vesicle-mediated transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
SFTA1P, Official Symbol SFTA1Pprovided by HGNC Official Full Name surfactant associated 1, lncRNAprovided by HGNC Primary source HGNC:HGNC:18383 See related Ensembl:ENSG00000225383 AllianceGenome:HGNC:18383 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SFTPF Expression Biased expression in lung (RPKM 34.1) and fat (RPKM 4.4) See more
SFTA2, Official Symbol SFTA2provided by HGNC Official Full Name surfactant associated 2provided by HGNC Primary source HGNC:HGNC:18386 See related Ensembl:ENSG00000196260 AllianceGenome:HGNC:18386 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 SP-G; SFTPG; UNQ541; GSGL541 Summary Predicted to be located in Golgi apparatus; extracellular region; and transport vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward lung (RPKM 71.0) See more Orthologs mouse all
SFTPA1, Official Symbol SFTPA1provided by HGNC Official Full Name surfactant protein A1provided by HGNC Primary source HGNC:HGNC:10798 See related Ensembl:ENSG00000122852 MIM:178630; AllianceGenome:HGNC:10798 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 SPA; ILD1; PSAP; PSPA; SP-A; SPA1; PSP-A; SFTP1; SP-A1; COLEC4; SFTPA1B; SP-A1 beta; SP-A1 delta; SP-A1 gamma; SP-A1 epsilon Summary This gene encodes a lung surfactant protein that is a member of a subfamily of C-type lectins called collectins. The encoded protein binds specific carbohydrate moieties found on lipids and on the surface of microorganisms. This protein plays an essential role in surfactant homeostasis and in the defense against respiratory pathogens. Mutations in this gene are associated with idiopathic pulmonary fibrosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] Annotation information Note: In the NCBI Build 36 reference assembly, there were four SFTPA genes on chromosome 10, with the SFTPA1/SFTPA2 gene pair being centromeric to a SFTPA1B/SFTPA2B pair. In June 2009, the Genome Reference Consortium determined that the duplicated region containing one of these gene pairs is in error, and thus, only one SFTPA1/SFTPA2 pair is present in the GRCh37 reference assembly. The HUGO Gene Nomenclature Committee (HGNC) retired the symbol SFTPA1B, because its sequence is redundant with SFTPA1. [13 Feb 2013] Expression Restricted expression toward lung (RPKM 4554.3) See more Orthologs all
SFTPA2, Official Symbol SFTPA2provided by HGNC Official Full Name surfactant protein A2provided by HGNC Primary source HGNC:HGNC:10799 See related Ensembl:ENSG00000185303 MIM:178642; AllianceGenome:HGNC:10799 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 ILD2; PSAP; PSPA; SP-A; SPA2; PSP-A; SFTP1; SP-2A; SPAII; COLEC5; SFTPA2B Summary This gene is one of several genes encoding pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. Mutations in this gene and a highly similar gene located nearby, which affect the highly conserved carbohydrate recognition domain, are associated with idiopathic pulmonary fibrosis. The current version of the assembly displays only a single centromeric SFTPA gene pair rather than the two gene pairs shown in the previous assembly which were thought to have resulted from a duplication. [provided by RefSeq, Sep 2009] Annotation information Note: In the NCBI Build 36 reference assembly, there were four SFTPA genes on chromosome 10, with the SFTPA1/SFTPA2 gene pair being centromeric to a SFTPA1B/SFTPA2B pair. In June 2009, the Genome Reference Consortium determined that the duplicated region containing one of these gene pairs is in error, and thus, only one SFTPA1/SFTPA2 pair is present in the GRCh37 reference assembly. [13 Feb 2013] Expression Restricted expression toward lung (RPKM 5398.9) See more Orthologs all
SFTPB, Official Symbol SFTPBprovided by HGNC Official Full Name surfactant protein Bprovided by HGNC Primary source HGNC:HGNC:10801 See related Ensembl:ENSG00000168878 MIM:178640; AllianceGenome:HGNC:10801 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 SP-B; PSP-B; SFTB3; SFTP3; SMDP1 Summary This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010] Expression Restricted expression toward lung (RPKM 1420.4) See more Orthologs mouse all
SFTPC, Official Symbol SFTPCprovided by HGNC Official Full Name surfactant protein Cprovided by HGNC Primary source HGNC:HGNC:10802 See related Ensembl:ENSG00000168484 MIM:178620; AllianceGenome:HGNC:10802 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 SP5; SP-C; PSP-C; SFTP2; SMDP2; BRICD6 Summary This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010] Expression Restricted expression toward lung (RPKM 8558.2) See more Orthologs mouse all
SFTPD, Official Symbol SFTPDprovided by HGNC Official Full Name surfactant protein Dprovided by HGNC Primary source HGNC:HGNC:10803 See related Ensembl:ENSG00000133661 MIM:178635; AllianceGenome:HGNC:10803 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 SP-D; PSP-D; SFTP4; COLEC7 Summary The protein encoded by this gene is part of the innate immune response, protecting the lungs against inhaled microorganisms and chemicals. The encoded protein may also be involved in surfactant metabolism. [provided by RefSeq, Jul 2015] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Restricted expression toward lung (RPKM 293.0) See more Orthologs mouse all
SFXN1, Official Symbol SFXN1provided by HGNC Official Full Name sideroflexin 1provided by HGNC Primary source HGNC:HGNC:16085 See related Ensembl:ENSG00000164466 MIM:615569; AllianceGenome:HGNC:16085 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 TCC; SLC56A1 Summary Enables D-serine transmembrane transporter activity and L-serine transmembrane transporter activity. Involved in D-serine transport; L-serine transport; and serine import into mitochondrion. Located in mitochondrion. Is integral component of mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in liver (RPKM 20.2), kidney (RPKM 17.3) and 24 other tissues See more Orthologs mouse all
SFXN2, Official Symbol SFXN2provided by HGNC Official Full Name sideroflexin 2provided by HGNC Primary source HGNC:HGNC:16086 See related Ensembl:ENSG00000156398 MIM:615570; AllianceGenome:HGNC:16086 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 SLC56A2 Summary Predicted to enable serine transmembrane transporter activity. Involved in mitochondrial transmembrane transport. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 25.3), thyroid (RPKM 4.8) and 16 other tissues See more Orthologs mouse all
SFXN3, Official Symbol SFXN3provided by HGNC Official Full Name sideroflexin 3provided by HGNC Primary source HGNC:HGNC:16087 See related Ensembl:ENSG00000107819 MIM:615571; AllianceGenome:HGNC:16087 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 SFX3; SLC56A3; BA108L7.2 Summary Enables serine transmembrane transporter activity. Involved in serine import into mitochondrion. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in small intestine (RPKM 25.7), duodenum (RPKM 19.3) and 23 other tissues See more Orthologs mouse all
SFXN4, Official Symbol SFXN4provided by HGNC Official Full Name sideroflexin 4provided by HGNC Primary source HGNC:HGNC:16088 See related Ensembl:ENSG00000183605 MIM:615564; AllianceGenome:HGNC:16088 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 BCRM1; COXPD18; SLC56A4 Summary This gene encodes a member of the sideroflexin family. The encoded protein is a transmembrane protein of the inner mitochondrial membrane, and is required for mitochondrial respiratory homeostasis and erythropoiesis. Mutations in this gene are associated with mitochondriopathy and macrocytic anemia. Alternatively spliced transcript variants have been found in this gene. [provided by RefSeq, Jan 2014] Expression Ubiquitous expression in thyroid (RPKM 11.3), adrenal (RPKM 10.8) and 25 other tissues See more Orthologs mouse all
SFXN4P1, Official Symbol SFXN4P1provided by HGNC Official Full Name SFXN4 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54574 See related Ensembl:ENSG00000270390 AllianceGenome:HGNC:54574 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SFXN5, Official Symbol SFXN5provided by HGNC Official Full Name sideroflexin 5provided by HGNC Primary source HGNC:HGNC:16073 See related Ensembl:ENSG00000144040 MIM:615572; AllianceGenome:HGNC:16073 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 BBG-TCC; SLC56A5 Summary Predicted to enable citrate transmembrane transporter activity. Predicted to be involved in citrate transport and mitochondrial transmembrane transport. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 13.0), liver (RPKM 3.8) and 20 other tissues See more Orthologs mouse all
SGCA, Official Symbol SGCAprovided by HGNC Official Full Name sarcoglycan alphaprovided by HGNC Primary source HGNC:HGNC:10805 See related Ensembl:ENSG00000108823 MIM:600119; AllianceGenome:HGNC:10805 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 ADL; DAG2; 50DAG; DMDA2; LGMD2D; LGMDR3; SCARMD1; adhalin Summary This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] Expression Biased expression in heart (RPKM 27.1), esophagus (RPKM 7.1) and 11 other tissues See more Orthologs mouse all
SGCB, Official Symbol SGCBprovided by HGNC Official Full Name sarcoglycan betaprovided by HGNC Primary source HGNC:HGNC:10806 See related Ensembl:ENSG00000163069 MIM:600900; AllianceGenome:HGNC:10806 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 A3b; SGC; LGMD2E; LGMDR4 Summary This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008] Expression Ubiquitous expression in heart (RPKM 22.7), brain (RPKM 22.7) and 23 other tissues See more Orthologs mouse all
SGCD, Official Symbol SGCDprovided by HGNC Official Full Name sarcoglycan deltaprovided by HGNC Primary source HGNC:HGNC:10807 See related Ensembl:ENSG00000170624 MIM:601411; AllianceGenome:HGNC:10807 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 SGD; DAGD; 35DAG; CMD1L; SGCDP; LGMDR6; SG-delta Summary The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in heart (RPKM 13.1), thyroid (RPKM 9.5) and 17 other tissues See more Orthologs mouse all
SGCE, Official Symbol SGCEprovided by HGNC Official Full Name sarcoglycan epsilonprovided by HGNC Primary source HGNC:HGNC:10808 See related Ensembl:ENSG00000127990 MIM:604149; AllianceGenome:HGNC:10808 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 ESG; DYT11; epsilon-SG Summary This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016] Expression Ubiquitous expression in ovary (RPKM 12.3), adrenal (RPKM 10.3) and 23 other tissues See more Orthologs mouse all
SGCG, Official Symbol SGCGprovided by HGNC Official Full Name sarcoglycan gammaprovided by HGNC Primary source HGNC:HGNC:10809 See related Ensembl:ENSG00000102683 MIM:608896; AllianceGenome:HGNC:10809 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 A4; MAM; DMDA; SCG3; 35DAG; DAGA4; DMDA1; LGMD2C; LGMDR5; SCARMD2; gamma-SG Summary This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008] Expression Biased expression in heart (RPKM 31.0), fat (RPKM 8.6) and 2 other tissues See more Orthologs mouse all
SGCZ, Official Symbol SGCZprovided by HGNC Official Full Name sarcoglycan zetaprovided by HGNC Primary source HGNC:HGNC:14075 See related Ensembl:ENSG00000185053 MIM:608113; AllianceGenome:HGNC:14075 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 ZSG1 Summary The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
SGF29, Official Symbol SGF29provided by HGNC Official Full Name SAGA complex associated factor 29provided by HGNC Primary source HGNC:HGNC:25156 See related Ensembl:ENSG00000176476 MIM:613374; AllianceGenome:HGNC:25156 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 STAF36; TDRD29; CCDC101 Summary CCDC101 is a subunit of 2 histone acetyltransferase complexes: the ADA2A (TADA2A; MIM 602276)-containing (ATAC) complex and the SPT3 (SUPT3H; MIM 602947)-TAF9 (MIM 600822)-GCN5 (KAT2A; MIM 602301)/PCAF (KAT2B; MIM 602303) acetylase (STAGA) complex. Both of these complexes contain either GCN5 or PCAF, which are paralogous acetyltransferases (Wang et al., 2008 [PubMed 18838386]).[supplied by OMIM, Apr 2010] Expression Ubiquitous expression in testis (RPKM 13.2), ovary (RPKM 12.9) and 25 other tissues See more Orthologs mouse all
SGIP1, Official Symbol SGIP1provided by HGNC Official Full Name SH3GL interacting endocytic adaptor 1provided by HGNC Primary source HGNC:HGNC:25412 See related Ensembl:ENSG00000118473 MIM:611540; AllianceGenome:HGNC:25412 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 SGIP1 functions as an endocytic protein that affects signaling by receptors in neuronal systems involved in energy homeostasis via its interaction with endophilins (see SH3GL3; MIM 603362) (Trevaskis et al., 2005 [PubMed 15919751] and Uezu et al., 2007 [PubMed 17626015]).[supplied by OMIM, Mar 2008] Expression Biased expression in brain (RPKM 8.0), endometrium (RPKM 2.4) and 11 other tissues See more Orthologs mouse all
SGK1, Official Symbol SGK1provided by HGNC Official Full Name serum/glucocorticoid regulated kinase 1provided by HGNC Primary source HGNC:HGNC:10810 See related Ensembl:ENSG00000118515 MIM:602958; AllianceGenome:HGNC:10810 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 SGK Summary This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. High levels of expression of this gene may contribute to conditions such as hypertension and diabetic nephropathy. Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009] Expression Broad expression in small intestine (RPKM 111.9), gall bladder (RPKM 85.9) and 24 other tissues See more Orthologs mouse all
SGK2, Official Symbol SGK2provided by HGNC Official Full Name serum/glucocorticoid regulated kinase 2provided by HGNC Primary source HGNC:HGNC:13900 See related Ensembl:ENSG00000101049 MIM:607589; AllianceGenome:HGNC:13900 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 H-SGK2; dJ138B7.2 Summary This gene encodes a serine/threonine protein kinase. Although this gene product is similar to serum- and glucocorticoid-induced protein kinase (SGK), this gene is not induced by serum or glucocorticoids. This gene is induced in response to signals that activate phosphatidylinositol 3-kinase, which is also true for SGK. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010] Expression Biased expression in kidney (RPKM 17.8), colon (RPKM 13.6) and 8 other tissues See more Orthologs mouse all
SGK3, Official Symbol SGK3provided by HGNC Official Full Name serum/glucocorticoid regulated kinase family member 3provided by HGNC Primary source HGNC:HGNC:10812 See related Ensembl:ENSG00000104205 MIM:607591; AllianceGenome:HGNC:10812 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 CISK; SGK2; SGKL Summary This gene is a member of the Ser/Thr protein kinase family and encodes a phosphoprotein with a PX (phox homology) domain. The protein phosphorylates several target proteins and has a role in neutral amino acid transport and activation of potassium and chloride channels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 9.0), kidney (RPKM 5.7) and 25 other tissues See more Orthologs mouse all
SGMS1, Official Symbol SGMS1provided by HGNC Official Full Name sphingomyelin synthase 1provided by HGNC Primary source HGNC:HGNC:29799 See related Ensembl:ENSG00000198964 MIM:611573; AllianceGenome:HGNC:29799 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 MOB; MOB1; SMS1; TMEM23; hmob33 Summary The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 9.1), lung (RPKM 8.8) and 25 other tissues See more Orthologs mouse all
SGMS2, Official Symbol SGMS2provided by HGNC Official Full Name sphingomyelin synthase 2provided by HGNC Primary source HGNC:HGNC:28395 See related Ensembl:ENSG00000164023 MIM:611574; AllianceGenome:HGNC:28395 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 CDL; SMS2 Summary Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encoded by this gene is an enzyme that catalyzes this reaction primarily at the cell membrane. The synthesis is reversible, and this enzyme can catalyze the reaction in either direction. The encoded protein is required for cell growth. Three transcript variants encoding the same protein have been found for this gene. There is evidence for more variants, but the full-length nature of their transcripts has not been determined.[provided by RefSeq, Oct 2008] Expression Broad expression in gall bladder (RPKM 18.4), lung (RPKM 12.8) and 20 other tissues See more Orthologs mouse all
SGO1, Official Symbol SGO1provided by HGNC Official Full Name shugoshin 1provided by HGNC Primary source HGNC:HGNC:25088 See related Ensembl:ENSG00000129810 MIM:609168; AllianceGenome:HGNC:25088 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 SGO; CAID; SGOL1; NY-BR-85 Summary The protein encoded by this gene is a member of the shugoshin family of proteins. This protein is thought to protect centromeric cohesin from cleavage during mitotic prophase by preventing phosphorylation of a cohesin subunit. Reduced expression of this gene leads to the premature loss of centromeric cohesion, mis-segregation of sister chromatids, and mitotic arrest. Evidence suggests that this protein also protects a small subset of cohesin found along the length of the chromosome arms during mitotic prophase. An isoform lacking exon 6 has been shown to play a role in the cohesion of centrioles (PMID: 16582621 and PMID:18331714). Mutations in this gene have been associated with Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome, characterized by the co-occurrence of Sick Sinus Syndrome (SSS) and Chronic Intestinal Pseudo-obstruction (CIPO) within the first four decades of life (PMID:25282101). Fibroblast cells from CAID patients exhibited both increased cell proliferation and higher rates of senescence. Pseudogenes of this gene have been found on chromosomes 1 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015] Expression Broad expression in testis (RPKM 1.6), bone marrow (RPKM 1.4) and 16 other tissues See more Orthologs mouse all
SGO1-AS1, Official Symbol SGO1-AS1provided by HGNC Official Full Name SGO1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41081 See related Ensembl:ENSG00000231304 AllianceGenome:HGNC:41081 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 SGOL1-AS1 Expression Broad expression in testis (RPKM 4.1), bone marrow (RPKM 3.6) and 16 other tissues See more
SGO1P1, Official Symbol SGO1P1provided by HGNC Official Full Name shugoshin 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:50776 See related Ensembl:ENSG00000270615 AllianceGenome:HGNC:50776 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 SGOL1P1
SGO2, Official Symbol SGO2provided by HGNC Official Full Name shugoshin 2provided by HGNC Primary source HGNC:HGNC:30812 See related Ensembl:ENSG00000163535 MIM:612425; AllianceGenome:HGNC:30812 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 SGOL2; TRIPIN Summary Predicted to be involved in homologous chromosome segregation; meiotic sister chromatid cohesion; and mitotic sister chromatid segregation. Predicted to act upstream of or within meiotic nuclear division; positive regulation of maintenance of meiotic sister chromatid cohesion, centromeric; and protein localization. Located in chromosome, centromeric region and nuclear body. Part of mitotic cohesin complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 14.8), lymph node (RPKM 3.1) and 10 other tissues See more Orthologs mouse all
SGPL1, Official Symbol SGPL1provided by HGNC Official Full Name sphingosine-1-phosphate lyase 1provided by HGNC Primary source HGNC:HGNC:10817 See related Ensembl:ENSG00000166224 MIM:603729; AllianceGenome:HGNC:10817 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 SPL; RENI; S1PL; NPHS14 Summary Enables sphinganine-1-phosphate aldolase activity. Involved in apoptotic signaling pathway; fatty acid metabolic process; and sphingolipid metabolic process. Located in endoplasmic reticulum. Implicated in nephrotic syndrome type 14. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in urinary bladder (RPKM 14.9), skin (RPKM 13.8) and 25 other tissues See more Orthologs mouse all
SGPP1, Official Symbol SGPP1provided by HGNC Official Full Name sphingosine-1-phosphate phosphatase 1provided by HGNC Primary source HGNC:HGNC:17720 See related Ensembl:ENSG00000126821 MIM:612826; AllianceGenome:HGNC:17720 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 SPP-1; SPPase1 Summary Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid metabolite that regulates diverse biologic processes. SGPP1 catalyzes the degradation of S1P via salvage and recycling of sphingosine into long-chain ceramides (Mandala et al., 2000 [PubMed 10859351]; Le Stunff et al., 2007 [PubMed 17895250]).[supplied by OMIM, Jun 2009] Expression Ubiquitous expression in kidney (RPKM 17.3), lymph node (RPKM 14.6) and 25 other tissues See more Orthologs mouse all
SGPP2, Official Symbol SGPP2provided by HGNC Official Full Name sphingosine-1-phosphate phosphatase 2provided by HGNC Primary source HGNC:HGNC:19953 See related Ensembl:ENSG00000163082 MIM:612827; AllianceGenome:HGNC:19953 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 SPP2; SPPase2 Summary The protein encoded by this gene is a transmembrane protein that degrades the bioactive signaling molecule sphingosine 1-phosphate. The encoded protein is induced during inflammatory responses and has been shown to be downregulated by the microRNA-31 tumor suppressor. Alternative splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2016] Expression Broad expression in thyroid (RPKM 13.7), esophagus (RPKM 12.0) and 18 other tissues See more Orthologs mouse all