Biology:CHD3

From HandWiki
A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Chromodomain-helicase-DNA-binding protein 3 is an enzyme that in humans is encoded by the CHD3 gene.[1][2][3]

Function

This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described.[3]

Mutations in CHD3 cause a neurodevelopmental syndrome (Snijders Blok-Campeau syndrome) with macrocephaly and impaired speech and language.[4]

Interactions

CHD3 has been shown to interact with:

References

  1. "Characterization of the CHD family of proteins". Proceedings of the National Academy of Sciences of the United States of America 94 (21): 11472–7. Oct 1997. doi:10.1073/pnas.94.21.11472. PMID 9326634. Bibcode1997PNAS...9411472W. 
  2. "Molecular analysis of a major antigenic region of the 240-kD protein of Mi-2 autoantigen". The Journal of Clinical Investigation 96 (4): 1730–7. Oct 1995. doi:10.1172/JCI118218. PMID 7560064. 
  3. 3.0 3.1 "Entrez Gene: CHD3 chromodomain helicase DNA binding protein 3". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1107. 
  4. "CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language". Nature Communications 9 (1): 4619. November 2018. doi:10.1038/s41467-018-06014-6. PMID 30397230. Bibcode2018NatCo...9.4619S. 
  5. 5.0 5.1 "Chromatin deacetylation by an ATP-dependent nucleosome remodelling complex". Nature 395 (6705): 917–21. Oct 1998. doi:10.1038/27699. PMID 9804427. Bibcode1998Natur.395..917T. 
  6. "Role of the Sin3-histone deacetylase complex in growth regulation by the candidate tumor suppressor p33(ING1)". Molecular and Cellular Biology 22 (3): 835–48. Feb 2002. doi:10.1128/mcb.22.3.835-848.2002. PMID 11784859. 
  7. "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes". The Journal of Biological Chemistry 278 (9): 7234–9. Feb 2003. doi:10.1074/jbc.M208992200. PMID 12493763. 
  8. "A chromatin remodelling complex that loads cohesin onto human chromosomes". Nature 418 (6901): 994–8. Aug 2002. doi:10.1038/nature01024. PMID 12198550. Bibcode2002Natur.418..994H. 
  9. "Characterization of a new family of proteins that interact with the C-terminal region of the chromatin-remodeling factor CHD-3". FEBS Letters 533 (1–3): 14–20. Jan 2003. doi:10.1016/s0014-5793(02)03737-7. PMID 12505151. 
  10. "A human protein-protein interaction network: a resource for annotating the proteome". Cell 122 (6): 957–68. Sep 2005. doi:10.1016/j.cell.2005.08.029. PMID 16169070. 

External links

Further reading