Chromodomain-helicase-DNA-binding protein 7 is an ATP-dependent 'chromatin' or 'nucleosome' remodeling factor [5] that in humans is encoded by the CHD7 gene.[6][7]

CHD7
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCHD7, CRG, HH5, IS3, KAL5, chromodomain helicase DNA binding protein 7
External IDsOMIM: 608892; MGI: 2444748; HomoloGene: 19067; GeneCards: CHD7; OMA:CHD7 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_017780
NM_001316690
NM_017783

NM_001033395
NM_001081417
NM_001277149
NM_001355382

RefSeq (protein)

NP_001303619
NP_060250

NP_001264078
NP_001342311

Location (UCSC)Chr 8: 60.68 – 60.87 MbChr 4: 8.69 – 8.87 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

CHD7 is an ATP-dependent chromatin remodeler homologous to the Drosophila trithorax-group protein Kismet.[8] Mutations in CHD7 are associated with CHARGE syndrome.[9] This protein belongs to a larger group of ATP-dependent chromatin remodeling complexes, the CHD subfamily.

Clinical

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Mutations in this gene have been associated with the CHARGE syndrome.

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000171316Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041235Ensembl, 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. ^ Bouazoune, K; Kingston, RE (20 November 2012). "Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders". Proceedings of the National Academy of Sciences of the United States of America. 109 (47): 19238–43. Bibcode:2012PNAS..10919238B. doi:10.1073/pnas.1213825109. PMC 3511097. PMID 23134727.
  6. ^ Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (Feb 2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro" (PDF). DNA Research. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198.
  7. ^ "Entrez Gene: chromodomain helicase DNA binding protein 7".
  8. ^ Bajpai R, Chen DA, Rada-Iglesias A, Zhang J, Xiong Y, Helms J, Chang CP, Zhao Y, Swigut T, Wysocka J (Feb 2010). "CHD7 cooperates with PBAF to control multipotent neural crest formation". Nature. 463 (7283): 958–62. Bibcode:2010Natur.463..958B. doi:10.1038/nature08733. PMC 2890258. PMID 20130577.
  9. ^ Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG (Sep 2004). "Mutations in a new member of the chromodomain gene family cause CHARGE syndrome". Nature Genetics. 36 (9): 955–7. doi:10.1038/ng1407. PMID 15300250.

Further reading

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