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.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): SIN3A CDC HuGE Published Literature: SIN3A Positive Disease Associations: Death, Sudden, Cardiac
, height Related Studies:
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.
[PubMed 21658281]
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 .
[PubMed 20189936]
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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000976 transcription regulatory region sequence-specific DNA binding GO:0001102 RNA polymerase II activating transcription factor binding GO:0001103 RNA polymerase II repressing transcription factor binding GO:0001106 RNA polymerase II transcription corepressor activity GO:0003677 DNA binding GO:0003682 chromatin binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0003714 transcription corepressor activity GO:0003723 RNA binding GO:0005515 protein binding GO:0008134 transcription factor binding GO:0033558 protein deacetylase activity GO:0044877 macromolecular complex binding GO:0004407 histone deacetylase activity
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
US Server
