CHD3

CHD3
Identifiers
Aliases	CHD3 , Mi-2a, Mi2-ALPHA, ZFH, chromodomain helicase DNA binding protein 3, SNIBCPS
External IDs	OMIM: 602120; MGI: 1344395; HomoloGene: 62693; GeneCards: CHD3; OMA:CHD3 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17p13.1 Start 7,884,796 bp [1] End 7,912,760 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11|11 B3 Start 69,234,099 bp [2] End 69,260,232 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence right uterine tube granulocyte canal of the cervix body of uterus sural nerve gastric mucosa left uterine tube anterior pituitary right ovary Top expressed in dentate gyrus of hippocampal formation granule cell hand external carotid artery internal carotid artery primary visual cortex subiculum Rostral migratory stream superior frontal gyrus ventricular zone anterior amygdaloid area More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding nucleotide binding DNA helicase activity helicase activity hydrolase activity ATP binding protein binding DNA binding histone deacetylase activity RNA binding zinc ion binding ATPase activity double-stranded DNA helicase activity Cellular component nucleolus nucleoplasm cytoplasm nucleus NuRD complex centrosome cytoskeleton microtubule organizing center Biological process transcription, DNA-templated spindle organization regulation of transcription by RNA polymerase II regulation of transcription, DNA-templated chromatin organization histone deacetylation DNA duplex unwinding regulation of signal transduction by p53 class mediator centrosome cycle Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1107 216848 Ensembl ENSG00000170004 ENSMUSG00000018474 UniProt Q12873 n/a RefSeq (mRNA) NM_001005271 NM_001005273 NM_005852 NM_001272 NM_146019 RefSeq (protein) NP_001005271 NP_001005273 NP_005843 n/a Location (UCSC) Chr 17: 7.88 – 7.91 Mb Chr 11: 69.23 – 69.26 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Chromodomain-helicase-DNA-binding protein 3 is an enzyme that in humans is encoded by the CHD3 gene. ^{[5] [6] [7]}

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. ^[7]

Mutations in CHD3 cause a neurodevelopmental syndrome (Snijders Blok-Campeau syndrome) with macrocephaly and impaired speech and language. ^[8]

Interactions

CHD3 has been shown to interact with:

• HDAC1, ^{[9] [10]}
• Histone deacetylase 2 ^{[9] [11] [12]} and
• SERBP1. ^{[13] [14]}

References

1. GRCh38: Ensembl release 89: ENSG00000170004 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000018474 – 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. Woodage T, Basrai MA, Baxevanis AD, Hieter P, Collins FS (Oct 1997). "Characterization of the CHD family of proteins". Proceedings of the National Academy of Sciences of the United States of America. 94 (21): 11472–7. Bibcode:1997PNAS...9411472W. doi: 10.1073/pnas.94.21.11472 . PMC   23509 . PMID   9326634.
6. 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.
7. "Entrez Gene: CHD3 chromodomain helicase DNA binding protein 3".
8. 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.
9. 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.
10. 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.
11. 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.
12. 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.
13. 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.
14. Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (Sep 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl: 11858/00-001M-0000-0010-8592-0 . PMID   16169070. S2CID   8235923.

External links

• Human CHD3 genome location and CHD3 gene details page in the UCSC Genome Browser .

Further reading

• Bowen NJ, Fujita N, Kajita M, Wade PA (Mar 2004). "Mi-2/NuRD: multiple complexes for many purposes". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1677 (1–3): 52–7. doi:10.1016/j.bbaexp.2003.10.010. PMID   15020045.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• Kim J, Sif S, Jones B, Jackson A, Koipally J, Heller E, Winandy S, Viel A, Sawyer A, Ikeda T, Kingston R, Georgopoulos K (Mar 1999). "Ikaros DNA-binding proteins direct formation of chromatin remodeling complexes in lymphocytes". Immunity. 10 (3): 345–55. doi: 10.1016/S1074-7613(00)80034-5 . PMID   10204490.
• Wade PA, Gegonne A, Jones PL, Ballestar E, Aubry F, Wolffe AP (Sep 1999). "Mi-2 complex couples DNA methylation to chromatin remodelling and histone deacetylation". Nature Genetics. 23 (1): 62–6. doi:10.1038/12664. PMID   10471500. S2CID   52868103.
• Cousin P, Billotte J, Chaubert P, Shaw P (Jan 2000). "Physical map of 17p13 and the genes adjacent to p53". Genomics. 63 (1): 60–8. doi:10.1006/geno.1999.6062. PMID   10662545.
• 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.
• 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.
• Yasui D, Miyano M, Cai S, Varga-Weisz P, Kohwi-Shigematsu T (Oct 2002). "SATB1 targets chromatin remodelling to regulate genes over long distances". Nature. 419 (6907): 641–5. Bibcode:2002Natur.419..641Y. doi:10.1038/nature01084. PMID   12374985. S2CID   25822700.
• 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.
• 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.
• 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.