Human Gene SIN3A (uc002bai.3) Description and Page Index
Description: Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA. RefSeq Summary (NM_015477): The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repression by the Mad-Max complex. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr15:75,661,720-75,743,926 Size: 82,207 Total Exon Count: 21 Strand: - Coding Region Position: hg19 chr15:75,664,320-75,722,716 Size: 58,397 Coding Exon Count: 20
ID:SIN3A_HUMAN DESCRIPTION: RecName: Full=Paired amphipathic helix protein Sin3a; AltName: Full=Histone deacetylase complex subunit Sin3a; AltName: Full=Transcriptional corepressor Sin3a; FUNCTION: Acts as a transcriptional repressor. Corepressor for REST. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Also interacts with MXD1-MAX heterodimers to repress transcription by tethering SIN3A to DNA (By similarity). Acts cooperatively with OGT to repress transcription in parallel with histone deacetylation. SUBUNIT: Interacts with BAZ2A, MXD3, MXD4, MBD2, NCOR1, NR4A2, REST, RLIM, SAP30, SETDB1 and SMYD2. Interacts with PHF12 in a complex composed of HDAC1, PHF12 and SAP30 (By similarity). Interacts with ARID4B, BRMS1L, DACH1, HCFC1, HDAC1, HDAC2, MXI1, SAP30L, SAP130, SFPQ, SUDS3 and TOPORS. Interacts with TET1; the interaction recruits SIN3A to gene promoters. Interacts with OGT (via TPRs 1-6); the interaction mediates transcriptional repression in parallel with histone deacetylase. INTERACTION: P51610:HCFC1; NbExp=6; IntAct=EBI-347218, EBI-396176; Q92769:HDAC2; NbExp=3; IntAct=EBI-347218, EBI-301821; Q9UQ80:PA2G4; NbExp=4; IntAct=EBI-347218, EBI-924893; P23246:SFPQ; NbExp=2; IntAct=EBI-347218, EBI-355453; P04637:TP53; NbExp=2; IntAct=EBI-347218, EBI-366083; SUBCELLULAR LOCATION: Nucleus. Nucleus, nucleolus. Note=Recruited to the nucleolus by SAP30L. PTM: SUMO1 sumoylated by TOPORS. Probably desumoylated by SENP2. SIMILARITY: Contains 3 PAH (paired amphipathic helix) domains.
Genetic Association Studies of Complex Diseases and Disorders
Death, Sudden, Cardiac Bradley E Aouizerat et al. BMC cardiovascular disorders 2012, GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease., BMC cardiovascular disorders.
We demonstrate 11 gene associations for sudden cardiac arrest due to ventricular tachycardia/ventricular fibrillation in patients with coronary artery disease. Validation studies in independent cohorts and functional studies are required to confirm these associations.
height Okada ,et al. Hum Mol Genet 2010, A genome-wide association study in 19,633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci , Human molecular genetics 2010 .
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96ST3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0001701 in utero embryonic development GO:0002218 activation of innate immune response GO:0002230 positive regulation of defense response to virus by host GO:0002244 hematopoietic progenitor cell differentiation GO:0006260 DNA replication GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006476 protein deacetylation GO:0007568 aging GO:0010243 response to organonitrogen compound GO:0010817 regulation of hormone levels GO:0010971 positive regulation of G2/M transition of mitotic cell cycle GO:0016575 histone deacetylation GO:0019216 regulation of lipid metabolic process GO:0031937 positive regulation of chromatin silencing GO:0034613 cellular protein localization GO:0042754 negative regulation of circadian rhythm GO:0043066 negative regulation of apoptotic process GO:0043619 regulation of transcription from RNA polymerase II promoter in response to oxidative stress GO:0045652 regulation of megakaryocyte differentiation GO:0045892 negative regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048511 rhythmic process GO:0051595 response to methylglyoxal GO:0071333 cellular response to glucose stimulus GO:1900181 negative regulation of protein localization to nucleus GO:1901675 negative regulation of histone H3-K27 acetylation GO:1903351 cellular response to dopamine GO:2000678 negative regulation of transcription regulatory region DNA binding