CHD4
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCHD4, CHD-4, Mi-2b, Mi2-BETA, chromodomain helicase DNA binding protein 4, SIHIWES
External IDsOMIM: 603277 MGI: 1344380 HomoloGene: 68175 GeneCards: CHD4
Orthologs
SpeciesHumanMouse
Entrez

1108

107932

Ensembl

ENSG00000111642

ENSMUSG00000063870

UniProt

Q14839

Q6PDQ2

RefSeq (mRNA)

NM_001273
NM_001297553
NM_001363606

NM_145979
NM_001346610

RefSeq (protein)

NP_001264
NP_001284482
NP_001350535

Location (UCSC)Chr 12: 6.57 – 6.61 MbChr 6: 125.07 – 125.11 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Chromodomain-helicase-DNA-binding protein 4 is an enzyme that in humans is encoded by the CHD4 gene.[5][6][7] CHD4 is the core nucleosome-remodelling component of the Nucleosome Remodelling and Deacetylase (NuRD) complex.[8][9][10]

Function

The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein.[7]

Interactions

CHD4 has been shown to interact with HDAC1,[11][12][13] Histone deacetylase 2,[13][14][15] MTA2,[11] SATB1[16] and Ataxia telangiectasia and Rad3 related.[15]

Clinical

Mutations in this gene have been associated with a condition known as Sifrim-Hitz-Weiss syndrome.[17] This condition is characterized by

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000111642 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000063870 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ↑ Seelig HP, Moosbrugger I, Ehrfeld H, Fink T, Renz M, Genth E (October 1995). "The major dermatomyositis-specific Mi-2 autoantigen is a presumed helicase involved in transcriptional activation". Arthritis and Rheumatism. 38 (10): 1389–1399. doi:10.1002/art.1780381006. PMID 7575689.
  6. ↑ Seelig HP, Renz M, Targoff IN, Ge Q, Frank MB (October 1996). "Two forms of the major antigenic protein of the dermatomyositis-specific Mi-2 autoantigen". Arthritis and Rheumatism. 39 (10): 1769–1771. doi:10.1002/art.1780391029. PMID 8843877.
  7. 1 2 "Entrez Gene: CHD4 chromodomain helicase DNA binding protein 4".
  8. ↑ Tong JK, Hassig CA, Schnitzler GR, Kingston RE, Schreiber SL (October 1998). "Chromatin deacetylation by an ATP-dependent nucleosome remodelling complex". Nature. 395 (6705): 917–921. Bibcode:1998Natur.395..917T. doi:10.1038/27699. PMID 9804427. S2CID 4355885.
  9. ↑ Xue Y, Wong J, Moreno GT, Young MK, Côté J, Wang W (December 1998). "NURD, a novel complex with both ATP-dependent chromatin-remodeling and histone deacetylase activities". Molecular Cell. 2 (6): 851–861. doi:10.1016/S1097-2765(00)80299-3. PMID 9885572.
  10. ↑ Zhang Y, LeRoy G, Seelig HP, Lane WS, Reinberg D (October 1998). "The dermatomyositis-specific autoantigen Mi2 is a component of a complex containing histone deacetylase and nucleosome remodeling activities". Cell. 95 (2): 279–289. doi:10.1016/S0092-8674(00)81758-4. PMID 9790534.
  11. 1 2 Yao YL, Yang WM (October 2003). "The metastasis-associated proteins 1 and 2 form distinct protein complexes with histone deacetylase activity". The Journal of Biological Chemistry. 278 (43): 42560–42568. doi:10.1074/jbc.M302955200. PMID 12920132.
  12. ↑ Grozinger CM, Hassig CA, Schreiber SL (April 1999). "Three proteins define a class of human histone deacetylases related to yeast Hda1p". Proceedings of the National Academy of Sciences of the United States of America. 96 (9): 4868–4873. Bibcode:1999PNAS...96.4868G. doi:10.1073/pnas.96.9.4868. PMC 21783. PMID 10220385.
  13. 1 2 Tong JK, Hassig CA, Schnitzler GR, Kingston RE, Schreiber SL (October 1998). "Chromatin deacetylation by an ATP-dependent nucleosome remodelling complex". Nature. 395 (6705): 917–921. Bibcode:1998Natur.395..917T. doi:10.1038/27699. PMID 9804427. S2CID 4355885.
  14. ↑ Hakimi MA, Dong Y, Lane WS, Speicher DW, Shiekhattar R (February 2003). "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): 7234–7239. doi:10.1074/jbc.M208992200. PMID 12493763.
  15. 1 2 Schmidt DR, Schreiber SL (November 1999). "Molecular association between ATR and two components of the nucleosome remodeling and deacetylating complex, HDAC2 and CHD4". Biochemistry. 38 (44): 14711–14717. CiteSeerX 10.1.1.559.7745. doi:10.1021/bi991614n. PMID 10545197.
  16. ↑ Yasui D, Miyano M, Cai S, Varga-Weisz P, Kohwi-Shigematsu T (October 2002). "SATB1 targets chromatin remodelling to regulate genes over long distances". Nature. 419 (6907): 641–645. Bibcode:2002Natur.419..641Y. doi:10.1038/nature01084. PMID 12374985. S2CID 25822700.
  17. ↑ Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Wallen S, Solveig H, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA11,12, Kenney A11, Hove H13, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker M, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM34, Muenke M5, Wade PA, Lachlan K (2019) The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. Genet Med

Further reading

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