CHD3
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Template:Cs1 config Template:Short description An Error has occurred retrieving Wikidata item for infobox 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
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- ^ Page Module:Citation/CS1/styles.css has no content.Ge Q, Nilasena DS, O'Brien CA, Frank MB, Targoff IN (Oct 1995). "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. doi:10.1172/JCI118218. PMC 185809. PMID 7560064.
- ^ a b Page Module:Citation/CS1/styles.css has no content."Entrez Gene: CHD3 chromodomain helicase DNA binding protein 3".
- ^ Page Module:Citation/CS1/styles.css has no content.Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, et al. (November 2018). "CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language". Nature Communications. 9 (1): 4619. Bibcode:2018NatCo...9.4619S. doi:10.1038/s41467-018-06014-6. PMC 6218476. PMID 30397230.
- ^ a b Page Module:Citation/CS1/styles.css has no content.Tong JK, Hassig CA, Schnitzler GR, Kingston RE, Schreiber SL (Oct 1998). "Chromatin deacetylation by an ATP-dependent nucleosome remodelling complex". Nature. 395 (6705): 917–21. Bibcode:1998Natur.395..917T. doi:10.1038/27699. PMID 9804427. S2CID 4355885.
- ^ Page Module:Citation/CS1/styles.css has no content.Kuzmichev A, Zhang Y, Erdjument-Bromage H, Tempst P, Reinberg D (Feb 2002). "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. doi:10.1128/mcb.22.3.835-848.2002. PMC 133546. PMID 11784859.
- ^ Page Module:Citation/CS1/styles.css has no content.Hakimi MA, Dong Y, Lane WS, Speicher DW, Shiekhattar R (Feb 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): 7234–9. doi:10.1074/jbc.M208992200. PMID 12493763.
- ^ Page Module:Citation/CS1/styles.css has no content.Hakimi MA, Bochar DA, Schmiesing JA, Dong Y, Barak OG, Speicher DW, Yokomori K, Shiekhattar R (Aug 2002). "A chromatin remodelling complex that loads cohesin onto human chromosomes". Nature. 418 (6901): 994–8. Bibcode:2002Natur.418..994H. doi:10.1038/nature01024. PMID 12198550. S2CID 4344470.
- ^ Page Module:Citation/CS1/styles.css has no content.Lemos TA, Passos DO, Nery FC, Kobarg J (Jan 2003). "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. doi:10.1016/s0014-5793(02)03737-7. PMID 12505151. S2CID 41197943.
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External links
Further reading
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- Page Module:Citation/CS1/styles.css has no content.Gieser L, Swaroop A (Jul 1992). "Expressed sequence tags and chromosomal localization of cDNA clones from a subtracted retinal pigment epithelium library" (PDF). Genomics. 13 (3): 873–6. doi:10.1016/0888-7543(92)90173-P. hdl:2027.42/29973. PMID 1639417.
- Page Module:Citation/CS1/styles.css has no content.Seelig HP, Moosbrugger I, Ehrfeld H, Fink T, Renz M, Genth E (Oct 1995). "The major dermatomyositis-specific Mi-2 autoantigen is a presumed helicase involved in transcriptional activation". Arthritis and Rheumatism. 38 (10): 1389–99. doi:10.1002/art.1780381006. PMID 7575689.
- Page Module:Citation/CS1/styles.css has no content.Seelig HP, Renz M, Targoff IN, Ge Q, Frank MB (Oct 1996). "Two forms of the major antigenic protein of the dermatomyositis-specific Mi-2 autoantigen". Arthritis and Rheumatism. 39 (10): 1769–71. doi:10.1002/art.1780391029. PMID 8843877.
- Page Module:Citation/CS1/styles.css has no content.Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Page Module:Citation/CS1/styles.css has no content.Aubry F, Mattéi MG, Galibert F (Jun 1998). "Identification of a human 17p-located cDNA encoding a protein of the Snf2-like helicase family". European Journal of Biochemistry. 254 (3): 558–64. doi:10.1046/j.1432-1327.1998.2540558.x. PMID 9688266.
- Page Module:Citation/CS1/styles.css has no content.Tong JK, Hassig CA, Schnitzler GR, Kingston RE, Schreiber SL (Oct 1998). "Chromatin deacetylation by an ATP-dependent nucleosome remodelling complex". Nature. 395 (6705): 917–21. Bibcode:1998Natur.395..917T. doi:10.1038/27699. PMID 9804427. S2CID 4355885.
- Page Module:Citation/CS1/styles.css has no content.Kleiderlein JJ, Nisson PE, Jessee J, Li WB, Becker KG, Derby ML, Ross CA, Margolis RL (Dec 1998). "CCG repeats in cDNAs from human brain". Human Genetics. 103 (6): 666–73. doi:10.1007/s004390050889. PMID 9921901. S2CID 23696667.
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- Page Module:Citation/CS1/styles.css has no content.Minty A, Dumont X, Kaghad M, Caput D (Nov 2000). "Covalent modification of p73alpha by SUMO-1. Two-hybrid screening with p73 identifies novel SUMO-1-interacting proteins and a SUMO-1 interaction motif". The Journal of Biological Chemistry. 275 (46): 36316–23. doi:10.1074/jbc.M004293200. PMID 10961991.
- Page Module:Citation/CS1/styles.css has no content.Schultz DC, Friedman JR, Rauscher FJ (Feb 2001). "Targeting histone deacetylase complexes via KRAB-zinc finger proteins: the PHD and bromodomains of KAP-1 form a cooperative unit that recruits a novel isoform of the Mi-2alpha subunit of NuRD". Genes & Development. 15 (4): 428–43. doi:10.1101/gad.869501. PMC 312636. PMID 11230151.
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- Page Module:Citation/CS1/styles.css has no content.Fujita N, Jaye DL, Kajita M, Geigerman C, Moreno CS, Wade PA (Apr 2003). "MTA3, a Mi-2/NuRD complex subunit, regulates an invasive growth pathway in breast cancer". Cell. 113 (2): 207–19. doi:10.1016/S0092-8674(03)00234-4. PMID 12705869. S2CID 5773916.
- Page Module:Citation/CS1/styles.css has no content.Lee BH, Yoshimatsu K, Maeda A, Ochiai K, Morimatsu M, Araki K, Ogino M, Morikawa S, Arikawa J (Dec 2003). "Association of the nucleocapsid protein of the Seoul and Hantaan hantaviruses with small ubiquitin-like modifier-1-related molecules". Virus Research. 98 (1): 83–91. doi:10.1016/j.virusres.2003.09.001. PMID 14609633.
