CHD3

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

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
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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]