GeneID: 209



Names

Common Name: SIN3A Type: Gene
Chromosome: 15 (NC_000015.10) Locus: N/A
HUGO Symbol: SIN3A Full Name: SIN3 transcription regulator family member A
Exons: 21 Introns: 20

Description:
The SIN3A gene encodes a transcriptional regulator, which acts as the central component (the scaffold protein) of a large multi-protein co-repressor complex that regulates the transcription of various genes by interacting with different transcription factors. SIN3A contains four repeats of paired amphipathic helices (PAH domains), which function as protein-protein interaction modules for an array of DNA-binding transcriptional repressors, such as histone deacetylases. SIN3A interacts with tumour suppressor Mad proteins and may mediate repression by the Mad-Max complex. SIN3A has been proposed to play a role in the developmental regulation of fetal haemoglobin (HbF) by repressing adult stage globin synthesis. Through recruitment of histone deacetylase HDAC1, the SIN3A co-repressor complex interacts with and represses KLF1 (a known HbF modifier), which in turn increases fetal globin synthesis. In silico analysis proposed an interaction between SIN3A and KLF10 (an HbF modifier). Polymorphisms in this gene associated with elevated HbF synthesis, as well as with response to hydroxyurea treatment in β-thalassaemia patients.

Synonyms: WITKOS

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Eilers AL, Billin AN, Liu J, Ayer DE, A 13-amino acid amphipathic alpha-helix is required for the functional interaction between the transcriptional repressor Mad1 and mSin3A., J. Biol. Chem. , 274(46), 32750-6, 1999 PubMed
  2. Zhang JS, Moncrieffe MC, Kaczynski J, Ellenrieder V, Prendergast FG, Urrutia R, A conserved alpha-helical motif mediates the interaction of Sp1-like transcriptional repressors with the corepressor mSin3A., Mol. Cell. Biol. , 21(15), 5041-9, 2001 PubMed
  3. Le Guezennec X, Vermeulen M, Stunnenberg HG, Molecular characterization of Sin3 PAH-domain interactor specificity and identification of PAH partners., Nucleic Acids Res. , 34(14), 3929-37, 2006 PubMed
  4. Gravia A, Chondrou V, Kolliopoulou A, Kourakli A, John A, Symeonidis A, Ali BR, Sgourou A, Papachatzopoulou A, Katsila T, Patrinos GP, Correlation of SIN3A genomic variants with β-hemoglobinopathies disease severity and hydroxyurea treatment efficacy., Pharmacogenomics , 2016 PubMed
Created on 2017-02-06 15:34:20, Last reviewed on 2017-03-28 12:09:05 (Show full history)


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