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Wikipedia

CHD3

April 11, 2024

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

CHD3
Identifiers
AliasesCHD3, Mi-2a, Mi2-ALPHA, ZFH, chromodomain helicase DNA binding protein 3, SNIBCPS
External IDsOMIM: 602120 MGI: 1344395 HomoloGene: 62693 GeneCards: CHD3
Orthologs
SpeciesHumanMouse
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 MbChr 11: 69.23 – 69.26 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function edit

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 edit

CHD3 has been shown to interact with:

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000170004 - Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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. ^ a b 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 edit

Further reading edit

  • 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.


 

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.

April 11, 2024
chd3, chromodomain, helicase, binding, protein, enzyme, that, humans, encoded, gene, identifiersaliases, alpha, chromodomain, helicase, binding, protein, snibcpsexternal, idsomim, 602120, 1344395, homologene, 62693, genecards, gene, location, human, chromosome. Chromodomain helicase DNA binding protein 3 is an enzyme that in humans is encoded by the CHD3 gene 5 6 7 CHD3IdentifiersAliasesCHD3 Mi 2a Mi2 ALPHA ZFH chromodomain helicase DNA binding protein 3 SNIBCPSExternal IDsOMIM 602120 MGI 1344395 HomoloGene 62693 GeneCards CHD3Gene location Human Chr Chromosome 17 human 1 Band17p13 1Start7 884 796 bp 1 End7 912 760 bp 1 Gene location Mouse Chr Chromosome 11 mouse 2 Band11 11 B3Start69 234 099 bp 2 End69 260 232 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inganglionic eminenceright uterine tubecanal of the cervixsural nervegastric mucosaleft uterine tubeanterior pituitaryright lobe of thyroid glandleft lobe of thyroid glandstromal cell of endometriumTop expressed inhandexternal carotid arteryinternal carotid arterysubiculumsuperior frontal gyrushippocampus propersuperior colliculusganglionic eminencepiriform cortexmolarMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionmetal 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 activityCellular componentnucleolus nucleoplasm cytoplasm nucleus NuRD complex centrosome cytoskeleton microtubule organizing centerBiological processtranscription 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 cycleSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez1107216848EnsemblENSG00000170004ENSMUSG00000018474UniProtQ12873n aRefSeq mRNA NM 001005271NM 001005273NM 005852NM 001272NM 146019RefSeq protein NP 001005271NP 001005273NP 005843n aLocation UCSC Chr 17 7 88 7 91 MbChr 11 69 23 69 26 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Interactions 3 References 4 External links 5 Further readingFunction editThis 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 editCHD3 has been shown to interact with HDAC1 9 10 Histone deacetylase 2 9 11 12 and SERBP1 13 14 References edit a b c GRCh38 Ensembl release 89 ENSG00000170004 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000018474 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine 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 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 Entrez Gene CHD3 chromodomain helicase DNA binding protein 3 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 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 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 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 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 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 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 Toksoz 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 editHuman CHD3 genome location and CHD3 gene details page in the UCSC Genome Browser Further reading editBowen 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 Mattei 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 amp 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 nbsp This article on a gene on human chromosome 17 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title CHD3 amp oldid 1191522014, wikipedia, wiki, book, books, library,

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