psui3905/ncbi_genes_summary huggingface dataset:
S1PR1, Official Symbol S1PR1provided by HGNC Official Full Name sphingosine-1-phosphate receptor 1provided by HGNC Primary source HGNC:HGNC:3165 See related Ensembl:ENSG00000170989 MIM:601974; AllianceGenome:HGNC:3165 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 EDG1; S1P1; CD363; ECGF1; EDG-1; CHEDG1; D1S3362 Summary The protein encoded by this gene is structurally similar to G protein-coupled receptors and is highly expressed in endothelial cells. It binds the ligand sphingosine-1-phosphate with high affinity and high specificity, and suggested to be involved in the processes that regulate the differentiation of endothelial cells. Activation of this receptor induces cell-cell adhesion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] Expression Broad expression in fat (RPKM 52.5), lung (RPKM 39.5) and 21 other tissues See more Orthologs mouse all
S1PR2, Official Symbol S1PR2provided by HGNC Official Full Name sphingosine-1-phosphate receptor 2provided by HGNC Primary source HGNC:HGNC:3169 See related Ensembl:ENSG00000267534 MIM:605111; AllianceGenome:HGNC:3169 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 EDG5; H218; LPB2; S1P2; AGR16; EDG-5; DFNB68; Gpcr13 Summary This gene encodes a member of the G protein-coupled receptors, as well as the EDG family of proteins. The encoded protein is a receptor for sphingosine 1-phosphate, which participates in cell proliferation, survival, and transcriptional activation. Defects in this gene have been associated with congenital profound deafness. [provided by RefSeq, Mar 2016] Expression Broad expression in placenta (RPKM 10.4), lymph node (RPKM 5.1) and 22 other tissues See more Orthologs mouse all
S1PR3, Official Symbol S1PR3provided by HGNC Official Full Name sphingosine-1-phosphate receptor 3provided by HGNC Primary source HGNC:HGNC:3167 See related Ensembl:ENSG00000213694 MIM:601965; AllianceGenome:HGNC:3167 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 EDG3; LPB3; S1P3; EDG-3; C9orf47; C9orf108; bA791O21.3 Summary This gene encodes a member of the EDG family of receptors, which are G protein-coupled receptors. This protein has been identified as a functional receptor for sphingosine 1-phosphate and likely contributes to the regulation of angiogenesis and vascular endothelial cell function. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in adrenal (RPKM 15.3), esophagus (RPKM 10.2) and 24 other tissues See more Orthologs mouse all
S1PR4, Official Symbol S1PR4provided by HGNC Official Full Name sphingosine-1-phosphate receptor 4provided by HGNC Primary source HGNC:HGNC:3170 See related Ensembl:ENSG00000125910 MIM:603751; AllianceGenome:HGNC:3170 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 EDG6; LPC1; S1P4; SLP4 Summary This gene is a member of the endothelial differentiation, G-protein-coupled (EDG)) receptor gene family. EDG receptors bind lysophospholipids or lysosphingolipids as ligands, and are involved in cell signalling in many different cell types. This EDG receptor gene is intronless and is specifically expressed in the lymphoid tissue. [provided by RefSeq, Jul 2008] Orthologs mouse all
S1PR5, Official Symbol S1PR5provided by HGNC Official Full Name sphingosine-1-phosphate receptor 5provided by HGNC Primary source HGNC:HGNC:14299 See related Ensembl:ENSG00000180739 MIM:605146; AllianceGenome:HGNC:14299 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 EDG8; S1P5; Edg-8; SPPR-1; SPPR-2 Summary The lysosphingolipid sphingosine 1-phosphate (S1P) regulates cell proliferation, apoptosis, motility, and neurite retraction. Its actions may be both intracellular as a second messenger and extracellular as a receptor ligand. S1P and the structurally related lysolipid mediator lysophosphatidic acid (LPA) signal cells through a set of G protein-coupled receptors known as EDG receptors. Some EDG receptors (e.g., EDG1; MIM 601974) are S1P receptors; others (e.g., EDG2; MIM 602282) are LPA receptors.[supplied by OMIM, Mar 2008] Expression Biased expression in skin (RPKM 5.9), bone marrow (RPKM 5.0) and 10 other tissues See more Orthologs mouse all
SAA1, Official Symbol SAA1provided by HGNC Official Full Name serum amyloid A1provided by HGNC Primary source HGNC:HGNC:10513 See related Ensembl:ENSG00000173432 MIM:104750; AllianceGenome:HGNC:10513 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 SAA; PIG4; SAA2; TP53I4 Summary This gene encodes a member of the serum amyloid A family of apolipoproteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a major acute phase protein that is highly expressed in response to inflammation and tissue injury. This protein also plays an important role in HDL metabolism and cholesterol homeostasis. High levels of this protein are associated with chronic inflammatory diseases including atherosclerosis, rheumatoid arthritis, Alzheimer's disease and Crohn's disease. This protein may also be a potential biomarker for certain tumors. Finally, antimicrobial activity against S. aureus and E. coli resides in the N-terminal portion of the mature protein. Alternate splicing results in multiple transcript variants that encode the same protein. A pseudogene of this gene is found on chromosome 11. [provided by RefSeq, Jul 2020] Expression Biased expression in fat (RPKM 1382.7), liver (RPKM 1080.1) and 1 other tissue See more Orthologs all
SAA2, Official Symbol SAA2provided by HGNC Official Full Name serum amyloid A2provided by HGNC Primary source HGNC:HGNC:10514 See related Ensembl:ENSG00000134339 MIM:104751; AllianceGenome:HGNC:10514 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 SAA; SAA1 Summary This gene encodes a member of the serum amyloid A family of apolipoproteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a major acute phase protein that is highly expressed in response to inflammation and tissue injury. This protein also plays an important role in HDL metabolism and cholesterol homeostasis. High levels of this protein are associated with chronic inflammatory diseases including atherosclerosis, rheumatoid arthritis, Alzheimer's disease and Crohn's disease. This protein may also be a potential biomarker for certain tumors. Finally, antimicrobial activity against S. aureus and E. coli resides in the N-terminal portion of the mature protein. [provided by RefSeq, Jul 2020] Expression Biased expression in liver (RPKM 216.6), fat (RPKM 172.8) and 1 other tissue See more Orthologs all
SAA2-SAA4, Official Symbol SAA2-SAA4provided by HGNC Official Full Name SAA2-SAA4 readthroughprovided by HGNC Primary source HGNC:HGNC:39550 See related Ensembl:ENSG00000255071 AllianceGenome:HGNC:39550 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 This locus represents naturally occurring read-through transcription between the neighboring serum amyloid A2 and serum amyloid A4 genes on chromosome 11. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010] Expression Biased expression in liver (RPKM 679.6), fat (RPKM 396.0) and 1 other tissue See more Orthologs all
SAA4, Official Symbol SAA4provided by HGNC Official Full Name serum amyloid A4, constitutiveprovided by HGNC Primary source HGNC:HGNC:10516 See related Ensembl:ENSG00000148965 MIM:104752; AllianceGenome:HGNC:10516 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 CSAA; C-SAA Summary Predicted to be involved in acute-phase response. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward liver (RPKM 339.3) See more Orthologs mouse all
SAAL1, Official Symbol SAAL1provided by HGNC Official Full Name serum amyloid A like 1provided by HGNC Primary source HGNC:HGNC:25158 See related Ensembl:ENSG00000166788 AllianceGenome:HGNC:25158 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 SPACIA1 Summary Acts upstream of or within positive regulation of synoviocyte proliferation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 8.1), lymph node (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
SAC3D1, Official Symbol SAC3D1provided by HGNC Official Full Name SAC3 domain containing 1provided by HGNC Primary source HGNC:HGNC:30179 See related Ensembl:ENSG00000168061 MIM:618796; AllianceGenome:HGNC:30179 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 SHD1; HSU79266 Summary Predicted to be involved in centrosome duplication and spindle assembly. Predicted to act upstream of or within negative regulation of receptor signaling pathway via JAK-STAT and regulation of immune response. Predicted to be located in microtubule cytoskeleton. Predicted to be active in centrosome; nucleus; and spindle. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 7.3), colon (RPKM 3.1) and 23 other tissues See more Orthologs mouse all
SACM1L, Official Symbol SACM1Lprovided by HGNC Official Full Name SAC1 like phosphatidylinositide phosphataseprovided by HGNC Primary source HGNC:HGNC:17059 See related Ensembl:ENSG00000211456 MIM:606569; AllianceGenome:HGNC:17059 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 SAC1 Summary This gene encodes an integral membrane protein, which is localized to the endoplasmic reticulum, and functions as a phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, and phosphatidylinositol 3,5-bisphosphate. Deletion of this gene in mouse results in preimplantation lethality. Other studies suggest that this gene is also involved in the organization of golgi membranes and mitotic spindles. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame, downstream translation termination codon via a stop codon readthrough mechanism.[provided by RefSeq, Dec 2017] Expression Ubiquitous expression in thyroid (RPKM 28.5), lung (RPKM 17.8) and 25 other tissues See more Orthologs mouse all
SACS, Official Symbol SACSprovided by HGNC Official Full Name sacsin molecular chaperoneprovided by HGNC Primary source HGNC:HGNC:10519 See related Ensembl:ENSG00000151835 MIM:604490; AllianceGenome:HGNC:10519 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 SPAX6; ARSACS; DNAJC29; PPP1R138 Summary This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] Expression Ubiquitous expression in brain (RPKM 7.1), appendix (RPKM 2.8) and 23 other tissues See more Orthologs mouse all
SACS-AS1, Official Symbol SACS-AS1provided by HGNC Official Full Name SACS antisense RNA 1provided by HGNC Primary source HGNC:HGNC:39835 See related Ensembl:ENSG00000229558 AllianceGenome:HGNC:39835 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 testis (RPKM 1.1), prostate (RPKM 0.1) and 3 other tissues See more
SAE1, Official Symbol SAE1provided by HGNC Official Full Name SUMO1 activating enzyme subunit 1provided by HGNC Primary source HGNC:HGNC:30660 See related Ensembl:ENSG00000142230 MIM:613294; AllianceGenome:HGNC:30660 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 AOS1; SUA1; UBLE1A; HSPC140 Summary Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010] Expression Ubiquitous expression in testis (RPKM 24.6), thyroid (RPKM 21.1) and 25 other tissues See more Orthologs mouse all
SAFB, Official Symbol SAFBprovided by HGNC Official Full Name scaffold attachment factor Bprovided by HGNC Primary source HGNC:HGNC:10520 See related Ensembl:ENSG00000160633 MIM:602895; AllianceGenome:HGNC:10520 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 HAP; HET; SAF-B; SAFB1; SAB-B1; SAF-B1 Summary This gene encodes a DNA-binding protein which has high specificity for scaffold or matrix attachment region DNA elements (S/MAR DNA). This protein is thought to be involved in attaching the base of chromatin loops to the nuclear matrix but there is conflicting evidence as to whether this protein is a component of chromatin or a nuclear matrix protein. Scaffold attachment factors are a specific subset of nuclear matrix proteins (NMP) that specifically bind to S/MAR. The encoded protein is thought to serve as a molecular base to assemble a 'transcriptosome complex' in the vicinity of actively transcribed genes. It is involved in the regulation of heat shock protein 27 transcription, can act as an estrogen receptor co-repressor and is a candidate for breast tumorigenesis. This gene is arranged head-to-head with a similar gene whose product has the same functions. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011] Expression Ubiquitous expression in spleen (RPKM 29.9), testis (RPKM 26.5) and 25 other tissues See more Orthologs all
SAFB2, Official Symbol SAFB2provided by HGNC Official Full Name scaffold attachment factor B2provided by HGNC Primary source HGNC:HGNC:21605 See related Ensembl:ENSG00000130254 MIM:608066; AllianceGenome:HGNC:21605 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 The protein encoded by this gene, along with its paralog (scaffold attachment factor B1), is a repressor of estrogen receptor alpha. The encoded protein binds scaffold/matrix attachment region (S/MAR) DNA and is involved in cell cycle regulation, apoptosis, differentiation, the stress response, and regulation of immune genes. [provided by RefSeq, May 2016] Expression Ubiquitous expression in kidney (RPKM 19.8), spleen (RPKM 18.1) and 25 other tissues See more Orthologs mouse all
SAG, Official Symbol SAGprovided by HGNC Official Full Name S-antigen visual arrestinprovided by HGNC Primary source HGNC:HGNC:10521 See related Ensembl:ENSG00000130561 MIM:181031; AllianceGenome:HGNC:10521 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 RP47; RP96; S-AG Summary Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness. [provided by RefSeq, Jul 2008] Annotation information Note: SAG (Gene ID: 6295) and RNF7 (Gene ID: 9616) share the SAG symbol/alias in common. SAG is a widely used alternative name for ring finger protein 7 (RNF7), which can be confused with the official symbol for SAG (S-antigen visual arrestin, GeneID 6295). [01 Jun 2018] Expression Low expression observed in reference dataset See more Orthologs mouse all
SAGE1, Official Symbol SAGE1provided by HGNC Official Full Name sarcoma antigen 1provided by HGNC Primary source HGNC:HGNC:30369 See related Ensembl:ENSG00000181433 MIM:300359; AllianceGenome:HGNC:30369 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 CT14; SAGE Summary This gene belongs to a class of genes that are activated in tumors. These genes are expressed in tumors of different histologic types but not in normal tissues, except for spermatogenic cells and, for some, placenta. The proteins encoded by these genes appear to be strictly tumor specific, and hence may be excellent sources of antigens for cancer immunotherapy. This gene is expressed in sarcomas. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 2.8) See more Orthologs all
SALL1, Official Symbol SALL1provided by HGNC Official Full Name spalt like transcription factor 1provided by HGNC Primary source HGNC:HGNC:10524 See related Ensembl:ENSG00000103449 MIM:602218; AllianceGenome:HGNC:10524 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 TBS; HSAL1; Sal-1; ZNF794; HEL-S-89 Summary The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in kidney (RPKM 14.2), thyroid (RPKM 12.6) and 8 other tissues See more Orthologs mouse all
SALL1P1, Official Symbol SALL1P1provided by HGNC Official Full Name spalt like transcription factor 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:10525 See related AllianceGenome:HGNC:10525 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 SALL1P
SALL2, Official Symbol SALL2provided by HGNC Official Full Name spalt like transcription factor 2provided by HGNC Primary source HGNC:HGNC:10526 See related Ensembl:ENSG00000165821 MIM:602219; AllianceGenome:HGNC:10526 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 COLB; HSAL2; Sal-2; ZNF795; p150(Sal2) Summary This gene encodes a protein containing multiple zinc finger domains. The encoded protein functions in optical fissure closure during development of the eye in the embryo. Mutations in this gene are associated with ocular coloboma. [provided by RefSeq, Jul 2016] Expression Broad expression in brain (RPKM 13.4), ovary (RPKM 8.7) and 18 other tissues See more Orthologs mouse all
SALL3, Official Symbol SALL3provided by HGNC Official Full Name spalt like transcription factor 3provided by HGNC Primary source HGNC:HGNC:10527 See related Ensembl:ENSG00000256463 MIM:605079; AllianceGenome:HGNC:10527 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 ZNF796 Summary This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital disorders in human, suggesting their importance in embryonic development. This protein binds to DNA methyltransferase 3 alpha (DNMT3A), and reduces DNMT3A-mediated CpG island methylation. It is suggested that silencing of this gene, resulting in acceleration of DNA methylation, may have a role in oncogenesis. [provided by RefSeq, Oct 2011] Expression Biased expression in brain (RPKM 1.5), prostate (RPKM 0.7) and 2 other tissues See more Orthologs mouse all
SALL4, Official Symbol SALL4provided by HGNC Official Full Name spalt like transcription factor 4provided by HGNC Primary source HGNC:HGNC:15924 See related Ensembl:ENSG00000101115 MIM:607343; AllianceGenome:HGNC:15924 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 DRRS; IVIC; HSAL4; ZNF797 Summary This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] Expression Biased expression in testis (RPKM 2.4), thyroid (RPKM 1.3) and 4 other tissues See more Orthologs mouse all
SALL4P1, Official Symbol SALL4P1provided by HGNC Official Full Name spalt like transcription factor 4 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39818 See related Ensembl:ENSG00000250308 AllianceGenome:HGNC:39818 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SALL4P5, Official Symbol SALL4P5provided by HGNC Official Full Name spalt like transcription factor 4 pseudogene 5provided by HGNC Primary source HGNC:HGNC:39822 See related Ensembl:ENSG00000231915 AllianceGenome:HGNC:39822 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SALL4P7, Official Symbol SALL4P7provided by HGNC Official Full Name spalt like transcription factor 4 pseudogene 7provided by HGNC Primary source HGNC:HGNC:43900 See related AllianceGenome:HGNC:43900 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SALRNA2, Official Symbol SALRNA2provided by HGNC Official Full Name senescence associated long non-coding RNA 2provided by HGNC Primary source HGNC:HGNC:49003 See related Ensembl:ENSG00000280515 AllianceGenome:HGNC:49003 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 SAL-RNA2; XLOC_025931
SALRNA3, Official Symbol SALRNA3provided by HGNC Official Full Name senescence associated long non-coding RNA 3provided by HGNC Primary source HGNC:HGNC:49002 See related Ensembl:ENSG00000281264 AllianceGenome:HGNC:49002 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 SAL-RNA3; XLOC_025918
SAMD1, Official Symbol SAMD1provided by HGNC Official Full Name sterile alpha motif domain containing 1provided by HGNC Primary source HGNC:HGNC:17958 See related Ensembl:ENSG00000141858 MIM:620206; AllianceGenome:HGNC:17958 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 chromatin binding activity and histone binding activity. Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to be located in cytoplasm and extracellular region. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Annotation category: suggests misassembly Expression Ubiquitous expression in colon (RPKM 8.2), brain (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
SAMD10, Official Symbol SAMD10provided by HGNC Official Full Name sterile alpha motif domain containing 10provided by HGNC Primary source HGNC:HGNC:16129 See related Ensembl:ENSG00000130590 AllianceGenome:HGNC:16129 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 dJ591C20; C20orf136; dJ591C20.7 Summary Predicted to be involved in transmembrane receptor protein tyrosine kinase signaling pathway. Predicted to be active in cytoplasmic side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 2.3), stomach (RPKM 1.9) and 24 other tissues See more Orthologs mouse all
SAMD11, Official Symbol SAMD11provided by HGNC Official Full Name sterile alpha motif domain containing 11provided by HGNC Primary source HGNC:HGNC:28706 See related Ensembl:ENSG00000187634 MIM:616765; AllianceGenome:HGNC:28706 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 MRS Summary Predicted to enable several functions, including histone binding activity; protein domain specific binding activity; and protein self-association. Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 7.4), endometrium (RPKM 5.9) and 25 other tissues See more Orthologs mouse all
SAMD11P1, Official Symbol SAMD11P1provided by HGNC Official Full Name sterile alpha motif domain containing 11 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44473 See related Ensembl:ENSG00000262480 AllianceGenome:HGNC:44473 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SAMD12, Official Symbol SAMD12provided by HGNC Official Full Name sterile alpha motif domain containing 12provided by HGNC Primary source HGNC:HGNC:31750 See related Ensembl:ENSG00000177570 MIM:618073; AllianceGenome:HGNC:31750 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 FAME; MEBA; BAFME; FAME1; BAFME1; FCMTE1 Summary Predicted to be involved in transmembrane receptor protein tyrosine kinase signaling pathway. Predicted to be active in cytoplasmic side of plasma membrane. Implicated in familial adult myoclonic epilepsy 1. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in thyroid (RPKM 2.1), brain (RPKM 2.1) and 22 other tissues See more Orthologs mouse all
SAMD13, Official Symbol SAMD13provided by HGNC Official Full Name sterile alpha motif domain containing 13provided by HGNC Primary source HGNC:HGNC:24582 See related Ensembl:ENSG00000203943 AllianceGenome:HGNC:24582 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 HSD-41; HSD-42 Summary Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in colon (RPKM 4.2), testis (RPKM 3.9) and 16 other tissues See more Orthologs mouse all
SAMD14, Official Symbol SAMD14provided by HGNC Official Full Name sterile alpha motif domain containing 14provided by HGNC Primary source HGNC:HGNC:27312 See related Ensembl:ENSG00000167100 MIM:619233; AllianceGenome:HGNC:27312 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 actin filament binding activity. Predicted to be involved in actin filament organization; calcium-mediated signaling; and neuron projection development. Predicted to be active in several cellular components, including actin cytoskeleton; dendrite; and postsynaptic density. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 5.2), adrenal (RPKM 5.0) and 24 other tissues See more Orthologs mouse all
SAMD15, Official Symbol SAMD15provided by HGNC Official Full Name sterile alpha motif domain containing 15provided by HGNC Primary source HGNC:HGNC:18631 See related Ensembl:ENSG00000100583 AllianceGenome:HGNC:18631 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 FAM15A; C14orf174 Expression Biased expression in testis (RPKM 14.6), thyroid (RPKM 2.9) and 2 other tissues See more Orthologs mouse all
SAMD3, Official Symbol SAMD3provided by HGNC Official Full Name sterile alpha motif domain containing 3provided by HGNC Primary source HGNC:HGNC:21574 See related Ensembl:ENSG00000164483 AllianceGenome:HGNC:21574 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 Expression Broad expression in lymph node (RPKM 2.9), spleen (RPKM 2.8) and 22 other tissues See more Orthologs mouse all
SAMD4A, Official Symbol SAMD4Aprovided by HGNC Official Full Name sterile alpha motif domain containing 4Aprovided by HGNC Primary source HGNC:HGNC:23023 See related Ensembl:ENSG00000020577 MIM:610747; AllianceGenome:HGNC:23023 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 SMG; SMGA; SAMD4; SMAUG; SMAUG1 Summary Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM, Mar 2008] Expression Broad expression in testis (RPKM 19.6), heart (RPKM 19.4) and 22 other tissues See more Orthologs mouse all
SAMD4B, Official Symbol SAMD4Bprovided by HGNC Official Full Name sterile alpha motif domain containing 4Bprovided by HGNC Primary source HGNC:HGNC:25492 See related Ensembl:ENSG00000179134 MIM:619231; AllianceGenome:HGNC:25492 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 SMGB; Smaug2 Summary Enables RNA binding activity. Predicted to be involved in nuclear-transcribed mRNA poly(A) tail shortening. Predicted to act upstream of or within cerebellar neuron development. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 7.6), ovary (RPKM 7.3) and 25 other tissues See more Orthologs mouse all
SAMD5, Official Symbol SAMD5provided by HGNC Official Full Name sterile alpha motif domain containing 5provided by HGNC Primary source HGNC:HGNC:21180 See related Ensembl:ENSG00000203727 AllianceGenome:HGNC:21180 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 dJ875H10.1 Summary Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in placenta (RPKM 5.1), colon (RPKM 4.2) and 21 other tissues See more Orthologs mouse all
SAMD7, Official Symbol SAMD7provided by HGNC Official Full Name sterile alpha motif domain containing 7provided by HGNC Primary source HGNC:HGNC:25394 See related Ensembl:ENSG00000187033 MIM:620493; AllianceGenome:HGNC:25394 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 chromatin binding activity and histone binding activity. Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
SAMD8, Official Symbol SAMD8provided by HGNC Official Full Name sterile alpha motif domain containing 8provided by HGNC Primary source HGNC:HGNC:26320 See related Ensembl:ENSG00000156671 MIM:611575; AllianceGenome:HGNC:26320 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 SMSr; HEL-177 Summary Predicted to enable ceramide cholinephosphotransferase activity and sphingomyelin synthase activity. Involved in ceramide biosynthetic process and regulation of ceramide biosynthetic process. Located in cytosol and endoplasmic reticulum. Is integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 15.2), testis (RPKM 8.3) and 24 other tissues See more Orthologs mouse all
SAMD9, Official Symbol SAMD9provided by HGNC Official Full Name sterile alpha motif domain containing 9provided by HGNC Primary source HGNC:HGNC:1348 See related Ensembl:ENSG00000205413 MIM:610456; AllianceGenome:HGNC:1348 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 NFTC; OEF1; OEF2; DRIF1; C7orf5; M7MLS2; MIRAGE Summary This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause of normophosphatemic familial tumoral calcinosis. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jul 2010] Expression Broad expression in esophagus (RPKM 24.7), spleen (RPKM 9.8) and 18 other tissues See more Orthologs all
SAMD9L, Official Symbol SAMD9Lprovided by HGNC Official Full Name sterile alpha motif domain containing 9 likeprovided by HGNC Primary source HGNC:HGNC:1349 See related Ensembl:ENSG00000177409 MIM:611170; AllianceGenome:HGNC:1349 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 UEF1; ATXPC; DEL7q; DRIF2; MLSM7; SCA49; C7DELq; C7orf6; M7MLS1 Summary This gene encodes a cytoplasmic protein that acts as a tumor suppressor but also plays a key role in cell proliferation and the innate immune response to viral infection. The encoded protein contains an N-terminal sterile alpha motif domain. Naturally occurring mutations in this gene are associated with myeloid disorders such as juvenile myelomonocytic leukemia, acute myeloid leukemia, and myelodysplastic syndrome. Naturally occurring mutations are also associated with hepatitis-B related hepatocellular carcinoma, normophosphatemic familial tumoral calcinosis, and ataxia-pancytopenia syndrome. [provided by RefSeq, Apr 2017] Expression Broad expression in spleen (RPKM 19.4), appendix (RPKM 14.5) and 23 other tissues See more Orthologs mouse all
SAMHD1, Official Symbol SAMHD1provided by HGNC Official Full Name SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1provided by HGNC Primary source HGNC:HGNC:15925 See related Ensembl:ENSG00000101347 MIM:606754; AllianceGenome:HGNC:15925 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 DCIP; CHBL2; HDDC1; MOP-5; SBBI88; hSAMHD1 Summary This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010] Expression Ubiquitous expression in appendix (RPKM 54.7), spleen (RPKM 47.0) and 25 other tissues See more Orthologs mouse all
SAMM50, Official Symbol SAMM50provided by HGNC Official Full Name SAMM50 sorting and assembly machinery componentprovided by HGNC Primary source HGNC:HGNC:24276 See related Ensembl:ENSG00000100347 MIM:612058; AllianceGenome:HGNC:24276 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 OMP85; SAM50; TOB55; TRG-3; CGI-51; YNL026W Summary This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane. The Sam complex functions in the assembly of beta-barrel proteins into the outer mitochondrial membrane.[provided by RefSeq, Jun 2011] Expression Ubiquitous expression in fat (RPKM 26.2), duodenum (RPKM 21.9) and 25 other tissues See more Orthologs mouse all
SAMM50P1, Official Symbol SAMM50P1provided by HGNC Official Full Name SAMM50 sorting and assembly machinery component pseudogene 1provided by HGNC Primary source HGNC:HGNC:49778 See related Ensembl:ENSG00000224488 AllianceGenome:HGNC:49778 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SAMMSON, Official Symbol SAMMSONprovided by HGNC Official Full Name survival associated mitochondrial melanoma specific oncogenic non-coding RNAprovided by HGNC Primary source HGNC:HGNC:49644 See related Ensembl:ENSG00000240405 MIM:616895; AllianceGenome:HGNC:49644 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 LINC01212 Expression Low expression observed in reference dataset See more
SAMSN1, Official Symbol SAMSN1provided by HGNC Official Full Name SAM domain, SH3 domain and nuclear localization signals 1provided by HGNC Primary source HGNC:HGNC:10528 See related Ensembl:ENSG00000155307 MIM:607978; AllianceGenome:HGNC:10528 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 SLy2; HACS1; NASH1; SASH2; SH3D6B Summary SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).[supplied by OMIM, Mar 2008] Expression Biased expression in bone marrow (RPKM 36.2), appendix (RPKM 25.5) and 11 other tissues See more Orthologs all
SAMSN1-AS1, Official Symbol SAMSN1-AS1provided by HGNC Official Full Name SAMSN1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:39599 See related Ensembl:ENSG00000223662 AllianceGenome:HGNC:39599 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
SAP130, Official Symbol SAP130provided by HGNC Official Full Name Sin3A associated protein 130provided by HGNC Primary source HGNC:HGNC:29813 See related Ensembl:ENSG00000136715 MIM:609697; AllianceGenome:HGNC:29813 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 SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008] Expression Broad expression in testis (RPKM 33.8), bone marrow (RPKM 7.4) and 24 other tissues See more Orthologs mouse all
SAP18, Official Symbol SAP18provided by HGNC Official Full Name Sin3A associated protein 18provided by HGNC Primary source HGNC:HGNC:10530 See related Ensembl:ENSG00000150459 MIM:602949; AllianceGenome:HGNC:10530 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 SAP18P; 2HOR0202 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, SAP30, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This protein directly interacts with SIN3 and enhances SIN3-mediated transcriptional repression when tethered to the promoter. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Dec 2008] Expression Ubiquitous expression in kidney (RPKM 50.6), brain (RPKM 39.3) and 25 other tissues See more Orthologs mouse all
SAP18P1, Official Symbol SAP18P1provided by HGNC Official Full Name SAP18 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51567 See related Ensembl:ENSG00000249777 AllianceGenome:HGNC:51567 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SAP18P2, Official Symbol SAP18P2provided by HGNC Official Full Name SAP18 pseudogene 2provided by HGNC Primary source HGNC:HGNC:51568 See related AllianceGenome:HGNC:51568 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SAP18P3, Official Symbol SAP18P3provided by HGNC Official Full Name SAP18 pseudogene 3provided by HGNC Primary source HGNC:HGNC:51569 See related Ensembl:ENSG00000230697 AllianceGenome:HGNC:51569 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo