CHD3: Difference between revisions

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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Chromodomain-helicase-DNA-binding protein 3''' is an [[enzyme]] that in humans is encoded by the ''CHD3'' [[gene]].<ref name="pmid9326634">{{cite journal | vauthors = Woodage T, Basrai MA, Baxevanis AD, Hieter P, Collins FS | title = Characterization of the CHD family of proteins | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 94 | issue = 21 | pages = 11472–7 | date = Oct 1997 | pmid = 9326634 | pmc = 23509 | doi = 10.1073/pnas.94.21.11472 }}</ref><ref name="pmid7560064">{{cite journal | vauthors = Ge Q, Nilasena DS, O'Brien CA, Frank MB, Targoff IN | title = Molecular analysis of a major antigenic region of the 240-kD protein of Mi-2 autoantigen | journal = The Journal of Clinical Investigation | volume = 96 | issue = 4 | pages = 1730–7 | date = Oct 1995 | pmid = 7560064 | pmc = 185809 | doi = 10.1172/JCI118218 }}</ref><ref name="entrez"/>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Chromodomain helicase DNA binding protein 3
| HGNCid = 1918
| Symbol = CHD3
| AltSymbols =; Mi-2a; Mi2-ALPHA; ZFH
| OMIM = 602120
| ECnumber = 
| Homologene = 62693
| MGIid = 1344395
| GeneAtlas_image1 = PBB_GE_CHD3_208807_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_CHD3_208806_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0003677 |text = DNA binding}} {{GNF_GO|id=GO:0003682 |text = chromatin binding}} {{GNF_GO|id=GO:0004003 |text = ATP-dependent DNA helicase activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0008026 |text = ATP-dependent helicase activity}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| Component = {{GNF_GO|id=GO:0000785 |text = chromatin}} {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006333 |text = chromatin assembly or disassembly}} {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0006357 |text = regulation of transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0007001 |text = chromosome organization and biogenesis (sensu Eukaryota)}} {{GNF_GO|id=GO:0016568 |text = chromatin modification}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 1107
    | Hs_Ensembl = ENSG00000170004
    | Hs_RefseqProtein = NP_001005271
    | Hs_RefseqmRNA = NM_001005271
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 17
    | Hs_GenLoc_start = 7728849
    | Hs_GenLoc_end = 7756246
    | Hs_Uniprot = Q12873
    | Mm_EntrezGene = 216848
    | Mm_Ensembl = ENSMUSG00000018474
    | Mm_RefseqmRNA = XM_484041
    | Mm_RefseqProtein = XP_484041
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 11
    | Mm_GenLoc_start = 69160546
    | Mm_GenLoc_end = 69185689
    | Mm_Uniprot = 
  }}
}}
'''Chromodomain helicase DNA binding protein 3''', also known as '''CHD3''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CHD3 chromodomain helicase DNA binding protein 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1107| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez">{{cite web | title = Entrez Gene: CHD3 chromodomain helicase DNA binding protein 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1107| accessdate = }}</ref>
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: CHD3 chromodomain helicase DNA binding protein 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1107| accessdate = }}</ref>
}}


==References==
Mutations in CHD3 cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.<ref>{{cite journal | vauthors = Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CT, Stegmann AP, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen AS, Agbahovbe R, Innes AM, Au PY, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KL, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faive L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM | display-authors = 6 | title = CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language | journal = Nature Communications | volume = 9 | issue = 1 | pages = 4619 | date = November 2018 | pmid = 30397230 | doi = 10.1038/s41467-018-06014-6 }}</ref>
{{reflist|2}}
 
==Further reading==
== Interactions ==
 
CHD3 has been shown to [[Protein-protein interaction|interact]] with:
* [[HDAC1]],<ref name = pmid9804427>{{cite journal | vauthors = Tong JK, Hassig CA, Schnitzler GR, Kingston RE, Schreiber SL | title = Chromatin deacetylation by an ATP-dependent nucleosome remodelling complex | journal = Nature | volume = 395 | issue = 6705 | pages = 917–21 | date = Oct 1998 | pmid = 9804427 | doi = 10.1038/27699 }}</ref><ref name = pmid11784859>{{cite journal | vauthors = Kuzmichev A, Zhang Y, Erdjument-Bromage H, Tempst P, Reinberg D | title = Role of the Sin3-histone deacetylase complex in growth regulation by the candidate tumor suppressor p33(ING1) | journal = Molecular and Cellular Biology | volume = 22 | issue = 3 | pages = 835–48 | date = Feb 2002 | pmid = 11784859 | pmc = 133546 | doi =  10.1128/mcb.22.3.835-848.2002}}</ref>
* [[Histone deacetylase 2]]<ref name = pmid9804427/><ref name = pmid12493763>{{cite journal | vauthors = Hakimi MA, Dong Y, Lane WS, Speicher DW, Shiekhattar R | title = A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes | journal = The Journal of Biological Chemistry | volume = 278 | issue = 9 | pages = 7234–9 | date = Feb 2003 | pmid = 12493763 | doi = 10.1074/jbc.M208992200 }}</ref><ref name = pmid12198550>{{cite journal | vauthors = Hakimi MA, Bochar DA, Schmiesing JA, Dong Y, Barak OG, Speicher DW, Yokomori K, Shiekhattar R | title = A chromatin remodelling complex that loads cohesin onto human chromosomes | journal = Nature | volume = 418 | issue = 6901 | pages = 994–8 | date = Aug 2002 | pmid = 12198550 | doi = 10.1038/nature01024 }}</ref>  and
* [[SERBP1]].<ref name = pmid12505151>{{cite journal | vauthors = Lemos TA, Passos DO, Nery FC, Kobarg J | title = Characterization of a new family of proteins that interact with the C-terminal region of the chromatin-remodeling factor CHD-3 | journal = FEBS Letters | volume = 533 | issue = 1-3 | pages = 14–20 | date = Jan 2003 | pmid = 12505151 | doi =  10.1016/s0014-5793(02)03737-7}}</ref><ref name = pmid16169070>{{cite journal | vauthors = 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 | title = A human protein-protein interaction network: a resource for annotating the proteome | journal = Cell | volume = 122 | issue = 6 | pages = 957–68 | date = Sep 2005 | pmid = 16169070 | doi = 10.1016/j.cell.2005.08.029 }}</ref>
 
== References ==
{{reflist}}
 
==External links==
* {{UCSC gene info|CHD3}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Bowen NJ, Fujita N, Kajita M, Wade PA | title = Mi-2/NuRD: multiple complexes for many purposes | journal = Biochimica et Biophysica Acta | volume = 1677 | issue = 1-3 | pages = 52–7 | date = Mar 2004 | pmid = 15020045 | doi = 10.1016/j.bbaexp.2003.10.010 }}
| citations =
* {{cite journal | vauthors = Gieser L, Swaroop A | title = Expressed sequence tags and chromosomal localization of cDNA clones from a subtracted retinal pigment epithelium library | journal = Genomics | volume = 13 | issue = 3 | pages = 873–6 | date = Jul 1992 | pmid = 1639417 | doi = 10.1016/0888-7543(92)90173-P }}
*{{cite journal | author=Bowen NJ, Fujita N, Kajita M, Wade PA |title=Mi-2/NuRD: multiple complexes for many purposes. |journal=Biochim. Biophys. Acta |volume=1677 |issue= 1-3 |pages= 52-7 |year= 2004 |pmid= 15020045 |doi= 10.1016/j.bbaexp.2003.10.010 }}
* {{cite journal | vauthors = Seelig HP, Moosbrugger I, Ehrfeld H, Fink T, Renz M, Genth E | title = The major dermatomyositis-specific Mi-2 autoantigen is a presumed helicase involved in transcriptional activation | journal = Arthritis and Rheumatism | volume = 38 | issue = 10 | pages = 1389–99 | date = Oct 1995 | pmid = 7575689 | doi = 10.1002/art.1780381006 }}
*{{cite journal | author=Gieser L, Swaroop A |title=Expressed sequence tags and chromosomal localization of cDNA clones from a subtracted retinal pigment epithelium library. |journal=Genomics |volume=13 |issue= 3 |pages= 873-6 |year= 1992 |pmid= 1639417 |doi= }}
* {{cite journal | vauthors = Seelig HP, Renz M, Targoff IN, Ge Q, Frank MB | title = Two forms of the major antigenic protein of the dermatomyositis-specific Mi-2 autoantigen | journal = Arthritis and Rheumatism | volume = 39 | issue = 10 | pages = 1769–71 | date = Oct 1996 | pmid = 8843877 | doi = 10.1002/art.1780391029 }}
*{{cite journal  | author=Ge Q, Nilasena DS, O'Brien CA, ''et al.'' |title=Molecular analysis of a major antigenic region of the 240-kD protein of Mi-2 autoantigen. |journal=J. Clin. Invest. |volume=96 |issue= 4 |pages= 1730-7 |year= 1995 |pmid= 7560064 |doi=  }}
* {{cite journal | vauthors = Bonaldo MF, Lennon G, Soares MB | title = Normalization and subtraction: two approaches to facilitate gene discovery | journal = Genome Research | volume = 6 | issue = 9 | pages = 791–806 | date = Sep 1996 | pmid = 8889548 | doi = 10.1101/gr.6.9.791 }}
*{{cite journal | author=Seelig HP, Moosbrugger I, Ehrfeld H, ''et al.'' |title=The major dermatomyositis-specific Mi-2 autoantigen is a presumed helicase involved in transcriptional activation. |journal=Arthritis Rheum. |volume=38 |issue= 10 |pages= 1389-99 |year= 1995 |pmid= 7575689 |doi= }}
* {{cite journal | vauthors = Aubry F, Mattéi MG, Galibert F | title = Identification of a human 17p-located cDNA encoding a protein of the Snf2-like helicase family | journal = European Journal of Biochemistry / FEBS | volume = 254 | issue = 3 | pages = 558–64 | date = Jun 1998 | pmid = 9688266 | doi = 10.1046/j.1432-1327.1998.2540558.x }}
*{{cite journal | author=Seelig HP, Renz M, Targoff IN, ''et al.'' |title=Two forms of the major antigenic protein of the dermatomyositis-specific Mi-2 autoantigen. |journal=Arthritis Rheum. |volume=39 |issue= 10 |pages= 1769-71 |year= 1996 |pmid= 8843877 |doi= }}
* {{cite journal | vauthors = Tong JK, Hassig CA, Schnitzler GR, Kingston RE, Schreiber SL | title = Chromatin deacetylation by an ATP-dependent nucleosome remodelling complex | journal = Nature | volume = 395 | issue = 6705 | pages = 917–21 | date = Oct 1998 | pmid = 9804427 | doi = 10.1038/27699 }}
*{{cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791-806 |year= 1997 |pmid= 8889548 |doi= }}
* {{cite journal | vauthors = Kleiderlein JJ, Nisson PE, Jessee J, Li WB, Becker KG, Derby ML, Ross CA, Margolis RL | title = CCG repeats in cDNAs from human brain | journal = Human Genetics | volume = 103 | issue = 6 | pages = 666–73 | date = Dec 1998 | pmid = 9921901 | doi = 10.1007/s004390050889 }}
*{{cite journal  | author=Woodage T, Basrai MA, Baxevanis AD, ''et al.'' |title=Characterization of the CHD family of proteins. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue= 21 |pages= 11472-7 |year= 1997 |pmid= 9326634 |doi=  }}
* {{cite journal | vauthors = Kim J, Sif S, Jones B, Jackson A, Koipally J, Heller E, Winandy S, Viel A, Sawyer A, Ikeda T, Kingston R, Georgopoulos K | title = Ikaros DNA-binding proteins direct formation of chromatin remodeling complexes in lymphocytes | journal = Immunity | volume = 10 | issue = 3 | pages = 345–55 | date = Mar 1999 | pmid = 10204490 | doi = 10.1016/S1074-7613(00)80034-5 }}
*{{cite journal | author=Aubry F, Mattéi MG, Galibert F |title=Identification of a human 17p-located cDNA encoding a protein of the Snf2-like helicase family. |journal=Eur. J. Biochem. |volume=254 |issue= 3 |pages= 558-64 |year= 1998 |pmid= 9688266 |doi= }}
* {{cite journal | vauthors = Wade PA, Gegonne A, Jones PL, Ballestar E, Aubry F, Wolffe AP | title = Mi-2 complex couples DNA methylation to chromatin remodelling and histone deacetylation | journal = Nature Genetics | volume = 23 | issue = 1 | pages = 62–6 | date = Sep 1999 | pmid = 10471500 | doi = 10.1038/12664 }}
*{{cite journal | author=Tong JK, Hassig CA, Schnitzler GR, ''et al.'' |title=Chromatin deacetylation by an ATP-dependent nucleosome remodelling complex. |journal=Nature |volume=395 |issue= 6705 |pages= 917-21 |year= 1998 |pmid= 9804427 |doi= 10.1038/27699 }}
* {{cite journal | vauthors = Cousin P, Billotte J, Chaubert P, Shaw P | title = Physical map of 17p13 and the genes adjacent to p53 | journal = Genomics | volume = 63 | issue = 1 | pages = 60–8 | date = Jan 2000 | pmid = 10662545 | doi = 10.1006/geno.1999.6062 }}
*{{cite journal | author=Kleiderlein JJ, Nisson PE, Jessee J, ''et al.'' |title=CCG repeats in cDNAs from human brain. |journal=Hum. Genet. |volume=103 |issue= 6 |pages= 666-73 |year= 1999 |pmid= 9921901 |doi= }}
* {{cite journal | vauthors = Minty A, Dumont X, Kaghad M, Caput D | title = Covalent modification of p73alpha by SUMO-1. Two-hybrid screening with p73 identifies novel SUMO-1-interacting proteins and a SUMO-1 interaction motif | journal = The Journal of Biological Chemistry | volume = 275 | issue = 46 | pages = 36316–23 | date = Nov 2000 | pmid = 10961991 | doi = 10.1074/jbc.M004293200 }}
*{{cite journal | author=Kim J, Sif S, Jones B, ''et al.'' |title=Ikaros DNA-binding proteins direct formation of chromatin remodeling complexes in lymphocytes. |journal=Immunity |volume=10 |issue= 3 |pages= 345-55 |year= 1999 |pmid= 10204490 |doi= }}
* {{cite journal | vauthors = Schultz DC, Friedman JR, Rauscher FJ | title = 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 | journal = Genes & Development | volume = 15 | issue = 4 | pages = 428–43 | date = Feb 2001 | pmid = 11230151 | pmc = 312636 | doi = 10.1101/gad.869501 }}
*{{cite journal | author=Wade PA, Gegonne A, Jones PL, ''et al.'' |title=Mi-2 complex couples DNA methylation to chromatin remodelling and histone deacetylation. |journal=Nat. Genet. |volume=23 |issue= 1 |pages= 62-6 |year= 1999 |pmid= 10471500 |doi= 10.1038/12664 }}
* {{cite journal | vauthors = Yasui D, Miyano M, Cai S, Varga-Weisz P, Kohwi-Shigematsu T | title = SATB1 targets chromatin remodelling to regulate genes over long distances | journal = Nature | volume = 419 | issue = 6907 | pages = 641–5 | date = Oct 2002 | pmid = 12374985 | doi = 10.1038/nature01084 }}
*{{cite journal | author=Cousin P, Billotte J, Chaubert P, Shaw P |title=Physical map of 17p13 and the genes adjacent to p53. |journal=Genomics |volume=63 |issue= 1 |pages= 60-8 |year= 2000 |pmid= 10662545 |doi= 10.1006/geno.1999.6062 }}
* {{cite journal | vauthors = Lemos TA, Passos DO, Nery FC, Kobarg J | title = Characterization of a new family of proteins that interact with the C-terminal region of the chromatin-remodeling factor CHD-3 | journal = FEBS Letters | volume = 533 | issue = 1-3 | pages = 14–20 | date = Jan 2003 | pmid = 12505151 | doi = 10.1016/S0014-5793(02)03737-7 }}
*{{cite journal | author=Minty A, Dumont X, Kaghad M, Caput D |title=Covalent modification of p73alpha by SUMO-1. Two-hybrid screening with p73 identifies novel SUMO-1-interacting proteins and a SUMO-1 interaction motif. |journal=J. Biol. Chem. |volume=275 |issue= 46 |pages= 36316-23 |year= 2000 |pmid= 10961991 |doi= 10.1074/jbc.M004293200 }}
* {{cite journal | vauthors = Fujita N, Jaye DL, Kajita M, Geigerman C, Moreno CS, Wade PA | title = MTA3, a Mi-2/NuRD complex subunit, regulates an invasive growth pathway in breast cancer | journal = Cell | volume = 113 | issue = 2 | pages = 207–19 | date = Apr 2003 | pmid = 12705869 | doi = 10.1016/S0092-8674(03)00234-4 }}
*{{cite journal | author=Schultz DC, Friedman JR, Rauscher FJ |title=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. |journal=Genes Dev. |volume=15 |issue= 4 |pages= 428-43 |year= 2001 |pmid= 11230151 |doi= 10.1101/gad.869501 }}
* {{cite journal | vauthors = Lee BH, Yoshimatsu K, Maeda A, Ochiai K, Morimatsu M, Araki K, Ogino M, Morikawa S, Arikawa J | title = Association of the nucleocapsid protein of the Seoul and Hantaan hantaviruses with small ubiquitin-like modifier-1-related molecules | journal = Virus Research | volume = 98 | issue = 1 | pages = 83–91 | date = Dec 2003 | pmid = 14609633 | doi = 10.1016/j.virusres.2003.09.001 }}
*{{cite journal | author=Yasui D, Miyano M, Cai S, ''et al.'' |title=SATB1 targets chromatin remodelling to regulate genes over long distances. |journal=Nature |volume=419 |issue= 6907 |pages= 641-5 |year= 2002 |pmid= 12374985 |doi= 10.1038/nature01084 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Lemos TA, Passos DO, Nery FC, Kobarg J |title=Characterization of a new family of proteins that interact with the C-terminal region of the chromatin-remodeling factor CHD-3. |journal=FEBS Lett. |volume=533 |issue= 1-3 |pages= 14-20 |year= 2003 |pmid= 12505151 |doi= }}
*{{cite journal | author=Fujita N, Jaye DL, Kajita M, ''et al.'' |title=MTA3, a Mi-2/NuRD complex subunit, regulates an invasive growth pathway in breast cancer. |journal=Cell |volume=113 |issue= 2 |pages= 207-19 |year= 2003 |pmid= 12705869 |doi= }}
*{{cite journal | author=Lee BH, Yoshimatsu K, Maeda A, ''et al.'' |title=Association of the nucleocapsid protein of the Seoul and Hantaan hantaviruses with small ubiquitin-like modifier-1-related molecules. |journal=Virus Res. |volume=98 |issue= 1 |pages= 83-91 |year= 2004 |pmid= 14609633 |doi= }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
 
{{WikiDoc Sources}}
{{gene-17-stub}}

Latest revision as of 20:45, 16 January 2019

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

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UniProt

n/a

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RefSeq (mRNA)

n/a

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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 with macrocephaly and impaired speech and language.[4]

Interactions

CHD3 has been shown to interact with:

References

  1. ↑ 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. doi:10.1073/pnas.94.21.11472. PMC 23509. PMID 9326634.
  2. ↑ 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.
  3. ↑ 3.0 3.1 "Entrez Gene: CHD3 chromodomain helicase DNA binding protein 3".
  4. ↑ 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. doi:10.1038/s41467-018-06014-6. PMID 30397230.
  5. ↑ 5.0 5.1 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. doi:10.1038/27699. PMID 9804427.
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ 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. doi:10.1038/nature01024. PMID 12198550.
  9. ↑ 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.
  10. ↑ 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. PMID 16169070.

External links

Further reading

  • Bowen NJ, Fujita N, Kajita M, Wade PA (Mar 2004). "Mi-2/NuRD: multiple complexes for many purposes". Biochimica et Biophysica Acta. 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". Genomics. 13 (3): 873–6. doi:10.1016/0888-7543(92)90173-P. 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 / FEBS. 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. doi:10.1038/27699. PMID 9804427.
  • 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.
  • 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.
  • 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. doi:10.1038/nature01084. PMID 12374985.
  • 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.
  • 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.
  • 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.


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