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UniProtKB - Q12873 (CHD3_HUMAN)

Entry version 220 (29 Sep 2021)
Sequence version 3 (07 Feb 2006)
Previous versions | rss
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Protein

Chromodomain-helicase-DNA-binding protein 3

Gene

CHD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones (PubMed:9804427, PubMed:30397230).

Involved in transcriptional repressiobn as part of the NuRD complex (PubMed:27068747).

Required for anchoring centrosomal pericentrin in both interphase and mitosis, for spindle organization and centrosome integrity (PubMed:17626165).

4 Publications

Miscellaneous

One of the main antigens reacting with anti-MI-2 positive sera of dermatomyositis.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri379 – 426PHD-type 1PROSITE-ProRule annotationAdd BLAST48
Zinc fingeri456 – 503PHD-type 2PROSITE-ProRule annotationAdd BLAST48
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi761 – 768ATPPROSITE-ProRule annotation8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChromatin regulator, DNA-binding, Helicase, Hydrolase
Biological processTranscription, Transcription regulation
LigandATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q12873

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-3214815, HDACs deacetylate histones
R-HSA-427389, ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
R-HSA-4551638, SUMOylation of chromatin organization proteins
R-HSA-6804758, Regulation of TP53 Activity through Acetylation
R-HSA-73762, RNA Polymerase I Transcription Initiation
R-HSA-8943724, Regulation of PTEN gene transcription
R-HSA-9679191, Potential therapeutics for SARS

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q12873

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

More...MoonDBi		Q12873, Predicted

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Chromodomain-helicase-DNA-binding protein 3 (EC:3.6.4.121 Publication)
Short name:
CHD-3
Alternative name(s):
ATP-dependent helicase CHD3
Mi-2 autoantigen 240 kDa protein
Mi2-alpha
Zinc finger helicase
Short name:
hZFH
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CHD3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:1918, CHD3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602120, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q12873

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000170004

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Snijders Blok-Campeau syndrome (SNIBCPS)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant neurodevelopmental disorder characterized by intellectual disability with a wide range of severity, developmental delay, and impaired speech and language skills. Speech-related problems include dysarthria, speech apraxia, oromotor problems, and stuttering. Additional clinical features are macrocephaly, characteristic facial features such as prominent forehead and hypertelorism, hypotonia, and joint laxity.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_081506457 – 2000Missing in SNIBCPS. 1 PublicationAdd BLAST1544
Natural variantiVAR_081507886H → R in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567855081Ensembl.1
Natural variantiVAR_081508915L → F in SNIBCPS; increased function in chromatin remodeling. 1 PublicationCorresponds to variant dbSNP:rs1567855669EnsemblClinVar.1
Natural variantiVAR_081509921E → K in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567855704EnsemblClinVar.1
Natural variantiVAR_081510961G → E in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567856045EnsemblClinVar.1
Natural variantiVAR_081511985R → Q in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567856331EnsemblClinVar.1
Natural variantiVAR_081512985R → W in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1555611722Ensembl.1
Natural variantiVAR_0815131109Missing in SNIBCPS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1567859975Ensembl.1
Natural variantiVAR_0815141120D → H in SNIBCPS; the patient also carries a truncating variant in CIC; both variants may contribute to disease phenotype. 1 Publication1
Natural variantiVAR_0815151121R → P in SNIBCPS; decreased function in chromatin remodeling; decreased ATPase activity. 1 PublicationCorresponds to variant dbSNP:rs1567860112EnsemblClinVar.1
Natural variantiVAR_0815161136T → I in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567860640EnsemblClinVar.1
Natural variantiVAR_0815171158W → R in SNIBCPS; highly decreased function in chromatin remodeling. 1 PublicationCorresponds to variant dbSNP:rs1567860891EnsemblClinVar.1
Natural variantiVAR_0815181159N → K in SNIBCPS; highly decreased function in chromatin remodeling. 1 PublicationCorresponds to variant dbSNP:rs754919272EnsemblClinVar.1
Natural variantiVAR_0815191161H → R in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567860919EnsemblClinVar.1
Natural variantiVAR_0815201169R → W in SNIBCPS. 2 PublicationsCorresponds to variant dbSNP:rs1567861468Ensembl.1
Natural variantiVAR_0815211171H → R in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567861489EnsemblClinVar.1
Natural variantiVAR_0815221172R → Q in SNIBCPS; decreased function in chromatin remodeling; decreased ATPase activity. 1 PublicationCorresponds to variant dbSNP:rs1567861501Ensembl.1
Natural variantiVAR_0815231187R → P in SNIBCPS; unknown pathological significance; does not affect function in chromatin remodeling; no effect on ATPase activity. 1 PublicationCorresponds to variant dbSNP:rs1567861571EnsemblClinVar.1
Natural variantiVAR_0815241236L → P in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567861894EnsemblClinVar.1
Natural variantiVAR_0815251342R → Q in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567863732Ensembl.1
Natural variantiVAR_0815261881R → L in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567877108EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi1971K → R: Abolishes sumoylation by ZBED1/hDREF and increases binding to chromatin. 1 Publication1

Keywords - Diseasei

Disease variant, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		1107

MalaCards human disease database

More...MalaCardsi		CHD3
MIMi618205, phenotype

Open Targets

More...OpenTargetsi		ENSG00000170004

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26454

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q12873, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CHD3

Domain mapping of disease mutations (DMDM)

More...DMDMi		88911273

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000802271 – 2000Chromodomain-helicase-DNA-binding protein 3Add BLAST2000

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei79PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki120Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Cross-linki163Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Cross-linki295Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Cross-linki302Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Modified residuei308PhosphoserineBy similarity1
Modified residuei324PhosphoserineCombined sources1
Modified residuei376PhosphothreonineBy similarity1
Modified residuei597PhosphoserineCombined sources1
Cross-linki627Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei713PhosphoserineCombined sources1
Cross-linki721Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki721Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateBy similarity
Modified residuei1219PhosphoserineBy similarity1
Cross-linki1222Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Cross-linki1238Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Cross-linki1246Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Cross-linki1308Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1367PhosphoserineCombined sources1
Modified residuei1532PhosphoserineBy similarity1
Modified residuei1538PhosphoserineBy similarity1
Cross-linki1573Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Cross-linki1585Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Modified residuei1601PhosphoserineCombined sources1
Modified residuei1605PhosphoserineCombined sources1
Modified residuei1646PhosphothreonineCombined sources1
Cross-linki1876Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Cross-linki1971Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)1 Publication
Cross-linki1988Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Sumoylation at Lys-1971 results in dissociation from chromatin and suppression of transcriptional repression.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q12873

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q12873

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q12873

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q12873

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q12873

PeptideAtlas

More...PeptideAtlasi		Q12873

PRoteomics IDEntifications database

More...PRIDEi		Q12873

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		20268
58995 [Q12873-1]
58996 [Q12873-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q12873, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q12873

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q12873

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q12873

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q12873

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000170004, Expressed in cortical plate and 228 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q12873, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q12873, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000170004, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Central component of the nucleosome remodeling and histone deacetylase (NuRD) repressive complex (PubMed:9804427, PubMed:27068747).

Interacts with TRIM28 (PubMed:11230151).

Interacts with SERBP1 (PubMed:12505151).

Interacts (via its C-terminal) with HABP4 (PubMed:12505151).

Interacts with PCNT; the interaction regulates centrosome integrity (PubMed:17626165).

Interacts with ZBED1/hDREF (PubMed:27068747).

5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		107532, 689 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-880, MBD2/NuRD nucleosome remodeling and deacetylase complex
CPX-922, MBD3/NuRD nucleosome remodeling and deacetylase complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q12873

Database of interacting proteins

More...DIPi		DIP-32496N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q12873

Protein interaction database and analysis system

More...IntActi		Q12873, 136 interactors

Molecular INTeraction database

More...MINTi		Q12873

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000369716

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q12873, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q12873

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini494 – 594Chromo 1PROSITE-ProRule annotationAdd BLAST101
Domaini631 – 673Chromo 2PROSITE-ProRule annotationAdd BLAST43
Domaini748 – 932Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST185
Domaini1064 – 1229Helicase C-terminalPROSITE-ProRule annotationAdd BLAST166

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni23 – 133DisorderedSequence analysisAdd BLAST111
Regioni231 – 359DisorderedSequence analysisAdd BLAST129
Regioni431 – 452DisorderedSequence analysisAdd BLAST22
Regioni523 – 542DisorderedSequence analysisAdd BLAST20
Regioni587 – 611DisorderedSequence analysisAdd BLAST25
Regioni692 – 721DisorderedSequence analysisAdd BLAST30
Regioni1349 – 1399DisorderedSequence analysisAdd BLAST51
Regioni1513 – 1707DisorderedSequence analysisAdd BLAST195
Regioni1566 – 1966Required for interaction with PCNT1 PublicationAdd BLAST401

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi883 – 886DEAH box4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi30 – 44Basic and acidic residuesSequence analysisAdd BLAST15
Compositional biasi45 – 67Basic residuesSequence analysisAdd BLAST23
Compositional biasi68 – 90Basic and acidic residuesSequence analysisAdd BLAST23
Compositional biasi100 – 117Basic residuesSequence analysisAdd BLAST18
Compositional biasi236 – 252Pro residuesSequence analysisAdd BLAST17
Compositional biasi262 – 290Basic residuesSequence analysisAdd BLAST29
Compositional biasi433 – 452Acidic residuesSequence analysisAdd BLAST20
Compositional biasi692 – 707Basic and acidic residuesSequence analysisAdd BLAST16
Compositional biasi1376 – 1396Basic and acidic residuesSequence analysisAdd BLAST21
Compositional biasi1525 – 1556Polar residuesSequence analysisAdd BLAST32
Compositional biasi1566 – 1595Basic and acidic residuesSequence analysisAdd BLAST30
Compositional biasi1631 – 1707Basic and acidic residuesSequence analysisAdd BLAST77

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the SNF2/RAD54 helicase family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri379 – 426PHD-type 1PROSITE-ProRule annotationAdd BLAST48
Zinc fingeri456 – 503PHD-type 2PROSITE-ProRule annotationAdd BLAST48

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0383, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158001

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000315_22_2_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q12873

Identification of Orthologs from Complete Genome Data

More...OMAi		WSCPTCE

Database of Orthologous Groups

More...OrthoDBi		54215at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q12873

TreeFam database of animal gene trees

More...TreeFami		TF106448

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.30.10, 1 hit
3.30.40.10, 2 hits
3.40.50.10810, 1 hit
3.40.50.300, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR012957, CHD_C2
IPR012958, CHD_N
IPR016197, Chromo-like_dom_sf
IPR000953, Chromo/chromo_shadow_dom
IPR023780, Chromo_domain
IPR023779, Chromodomain_CS
IPR002464, DNA/RNA_helicase_DEAH_CS
IPR009462, DUF1086
IPR009463, DUF1087
IPR014001, Helicase_ATP-bd
IPR001650, Helicase_C
IPR036910, HMG_box_dom_sf
IPR027417, P-loop_NTPase
IPR038718, SNF2-like_sf
IPR000330, SNF2_N
IPR019786, Zinc_finger_PHD-type_CS
IPR011011, Znf_FYVE_PHD
IPR001965, Znf_PHD
IPR019787, Znf_PHD-finger
IPR013083, Znf_RING/FYVE/PHD

Pfam protein domain database

More...Pfami		View protein in Pfam
PF08074, CHDCT2, 1 hit
PF08073, CHDNT, 1 hit
PF00385, Chromo, 1 hit
PF06461, DUF1086, 1 hit
PF06465, DUF1087, 1 hit
PF00271, Helicase_C, 1 hit
PF00628, PHD, 2 hits
PF00176, SNF2_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00298, CHROMO, 2 hits
SM00487, DEXDc, 1 hit
SM01146, DUF1086, 1 hit
SM01147, DUF1087, 1 hit
SM00490, HELICc, 1 hit
SM00249, PHD, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47095, SSF47095, 1 hit
SSF52540, SSF52540, 2 hits
SSF54160, SSF54160, 2 hits
SSF57903, SSF57903, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00598, CHROMO_1, 1 hit
PS50013, CHROMO_2, 2 hits
PS00690, DEAH_ATP_HELICASE, 1 hit
PS51192, HELICASE_ATP_BIND_1, 1 hit
PS51194, HELICASE_CTER, 1 hit
PS01359, ZF_PHD_1, 2 hits
PS50016, ZF_PHD_2, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q12873-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKAADTVILW ARSKNDQLRI SFPPGLCWGD RMPDKDDIRL LPSALGVKKR 
        60         70         80         90        100
KRGPKKQKEN KPGKPRKRKK RDSEEEFGSE RDEYREKSES GGSEYGTGPG 
       110        120        130        140        150
RKRRRKHREK KEKKTKRRKK GEGDGGQKQV EQKSSATLLL TWGLEDVEHV 
       160        170        180        190        200
FSEEDYHTLT NYKAFSQFMR PLIAKKNPKI PMSKMMTILG AKWREFSANN 
       210        220        230        240        250
PFKGSAAAVA AAAAAAAAAV AEQVSAAVSS ATPIAPSGPP ALPPPPAADI 
       260        270        280        290        300
QPPPIRRAKT KEGKGPGHKR RSKSPRVPDG RKKLRGKKMA PLKIKLGLLG 
       310        320        330        340        350
GKRKKGGSYV FQSDEGPEPE AEESDLDSGS VHSASGRPDG PVRTKKLKRG 
       360        370        380        390        400
RPGRKKKKVL GCPAVAGEEE VDGYETDHQD YCEVCQQGGE IILCDTCPRA 
       410        420        430        440        450
YHLVCLDPEL DRAPEGKWSC PHCEKEGVQW EAKEEEEEYE EEGEEEGEKE 
       460        470        480        490        500
EEDDHMEYCR VCKDGGELLC CDACISSYHI HCLNPPLPDI PNGEWLCPRC 
       510        520        530        540        550
TCPVLKGRVQ KILHWRWGEP PVAVPAPQQA DGNPDVPPPR PLQGRSEREF 
       560        570        580        590        600
FVKWVGLSYW HCSWAKELQL EIFHLVMYRN YQRKNDMDEP PPLDYGSGED 
       610        620        630        640        650
DGKSDKRKVK DPHYAEMEEK YYRFGIKPEW MTVHRIINHS VDKKGNYHYL 
       660        670        680        690        700
VKWRDLPYDQ STWEEDEMNI PEYEEHKQSY WRHRELIMGE DPAQPRKYKK 
       710        720        730        740        750
KKKELQGDGP PSSPTNDPTV KYETQPRFIT ATGGTLHMYQ LEGLNWLRFS 
       760        770        780        790        800
WAQGTDTILA DEMGLGKTIQ TIVFLYSLYK EGHTKGPFLV SAPLSTIINW 
       810        820        830        840        850
EREFQMWAPK FYVVTYTGDK DSRAIIRENE FSFEDNAIKG GKKAFKMKRE 
       860        870        880        890        900
AQVKFHVLLT SYELITIDQA ALGSIRWACL VVDEAHRLKN NQSKFFRVLN 
       910        920        930        940        950
GYKIDHKLLL TGTPLQNNLE ELFHLLNFLT PERFNNLEGF LEEFADISKE 
       960        970        980        990       1000
DQIKKLHDLL GPHMLRRLKA DVFKNMPAKT ELIVRVELSP MQKKYYKYIL 
      1010       1020       1030       1040       1050
TRNFEALNSR GGGNQVSLLN IMMDLKKCCN HPYLFPVAAM ESPKLPSGAY 
      1060       1070       1080       1090       1100
EGGALIKSSG KLMLLQKMLR KLKEQGHRVL IFSQMTKMLD LLEDFLDYEG 
      1110       1120       1130       1140       1150
YKYERIDGGI TGALRQEAID RFNAPGAQQF CFLLSTRAGG LGINLATADT 
      1160       1170       1180       1190       1200
VIIFDSDWNP HNDIQAFSRA HRIGQANKVM IYRFVTRASV EERITQVAKR 
      1210       1220       1230       1240       1250
KMMLTHLVVR PGLGSKAGSM SKQELDDILK FGTEELFKDE NEGENKEEDS 
      1260       1270       1280       1290       1300
SVIHYDNEAI ARLLDRNQDA TEDTDVQNMN EYLSSFKVAQ YVVREEDKIE 
      1310       1320       1330       1340       1350
EIEREIIKQE ENVDPDYWEK LLRHHYEQQQ EDLARNLGKG KRVRKQVNYN 
      1360       1370       1380       1390       1400
DAAQEDQDNQ SEYSVGSEEE DEDFDERPEG RRQSKRQLRN EKDKPLPPLL 
      1410       1420       1430       1440       1450
ARVGGNIEVL GFNTRQRKAF LNAVMRWGMP PQDAFTTQWL VRDLRGKTEK 
      1460       1470       1480       1490       1500
EFKAYVSLFM RHLCEPGADG SETFADGVPR EGLSRQQVLT RIGVMSLVKK 
      1510       1520       1530       1540       1550
KVQEFEHING RWSMPELMPD PSADSKRSSR ASSPTKTSPT TPEASATNSP 
      1560       1570       1580       1590       1600
CTSKPATPAP SEKGEGIRTP LEKEEAENQE EKPEKNSRIG EKMETEADAP 
      1610       1620       1630       1640       1650
SPAPSLGERL EPRKIPLEDE VPGVPGEMEP EPGYRGDREK SATESTPGER 
      1660       1670       1680       1690       1700
GEEKPLDGQE HRERPEGETG DLGKREDVKG DRELRPGPRD EPRSNGRREE 
      1710       1720       1730       1740       1750
KTEKPRFMFN IADGGFTELH TLWQNEERAA ISSGKLNEIW HRRHDYWLLA 
      1760       1770       1780       1790       1800
GIVLHGYARW QDIQNDAQFA IINEPFKTEA NKGNFLEMKN KFLARRFKLL 
      1810       1820       1830       1840       1850
EQALVIEEQL RRAAYLNLSQ EPAHPAMALH ARFAEAECLA ESHQHLSKES 
      1860       1870       1880       1890       1900
LAGNKPANAV LHKVLNQLEE LLSDMKADVT RLPATLSRIP PIAARLQMSE 
      1910       1920       1930       1940       1950
RSILSRLASK GTEPHPTPAY PPGPYATPPG YGAAFSAAPV GALAAAGANY 
      1960       1970       1980       1990       2000
SQMPAGSFIT AATNGPPVLV KKEKEMVGAL VSDGLDRKEP RAGEVICIDD
Length:2,000
Mass (Da):226,592
Last modified:February 7, 2006 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4494F56E5D0E7083
GO
Isoform 2 (identifier: Q12873-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1642-1675: Missing.

Show »
Length:1,966
Mass (Da):222,861
Checksum:iF8D7B7C132B263A6
GO
Isoform 3 (identifier: Q12873-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-32: MKAADTVILWARSKNDQLRISFPPGLCWGDRM → MASPLRDEEE...PLPPPPPPPP

Show »
Length:2,059
Mass (Da):233,037
Checksum:i3C71593E3C788027
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A5F9ZHX5A0A5F9ZHX5_HUMAN
DNA helicase
CHD3
1,357Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C2H0H7C2H0_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD3
525Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C0J3H7C0J3_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD3
383Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C3H7H7C3H7_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD3
277Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A5F9ZHM2A0A5F9ZHM2_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD3
188Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L229I3L229_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD3
249Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L1I4I3L1I4_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD3
110Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EPV1K7EPV1_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD3
63Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAB87383 differs from that shown. Differs from position 1967 onward for unknown reasons.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti121 – 126GEGDGG → PHFQQK in AAC50228 (PubMed:7560064).Curated6
Sequence conflicti309 – 312Missing in AAC50228 (PubMed:7560064).Curated4
Sequence conflicti653W → G in AAC50228 (PubMed:7560064).Curated1
Sequence conflicti1704K → N in AAC39923 (PubMed:9688266).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0487283A → V. Corresponds to variant dbSNP:rs931543Ensembl.1
Natural variantiVAR_081506457 – 2000Missing in SNIBCPS. 1 PublicationAdd BLAST1544
Natural variantiVAR_081507886H → R in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567855081Ensembl.1
Natural variantiVAR_081508915L → F in SNIBCPS; increased function in chromatin remodeling. 1 PublicationCorresponds to variant dbSNP:rs1567855669EnsemblClinVar.1
Natural variantiVAR_081509921E → K in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567855704EnsemblClinVar.1
Natural variantiVAR_081510961G → E in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567856045EnsemblClinVar.1
Natural variantiVAR_081511985R → Q in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567856331EnsemblClinVar.1
Natural variantiVAR_081512985R → W in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1555611722Ensembl.1
Natural variantiVAR_0815131109Missing in SNIBCPS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1567859975Ensembl.1
Natural variantiVAR_0815141120D → H in SNIBCPS; the patient also carries a truncating variant in CIC; both variants may contribute to disease phenotype. 1 Publication1
Natural variantiVAR_0815151121R → P in SNIBCPS; decreased function in chromatin remodeling; decreased ATPase activity. 1 PublicationCorresponds to variant dbSNP:rs1567860112EnsemblClinVar.1
Natural variantiVAR_0815161136T → I in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567860640EnsemblClinVar.1
Natural variantiVAR_0815171158W → R in SNIBCPS; highly decreased function in chromatin remodeling. 1 PublicationCorresponds to variant dbSNP:rs1567860891EnsemblClinVar.1
Natural variantiVAR_0815181159N → K in SNIBCPS; highly decreased function in chromatin remodeling. 1 PublicationCorresponds to variant dbSNP:rs754919272EnsemblClinVar.1
Natural variantiVAR_0815191161H → R in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567860919EnsemblClinVar.1
Natural variantiVAR_0815201169R → W in SNIBCPS. 2 PublicationsCorresponds to variant dbSNP:rs1567861468Ensembl.1
Natural variantiVAR_0815211171H → R in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567861489EnsemblClinVar.1
Natural variantiVAR_0815221172R → Q in SNIBCPS; decreased function in chromatin remodeling; decreased ATPase activity. 1 PublicationCorresponds to variant dbSNP:rs1567861501Ensembl.1
Natural variantiVAR_0815231187R → P in SNIBCPS; unknown pathological significance; does not affect function in chromatin remodeling; no effect on ATPase activity. 1 PublicationCorresponds to variant dbSNP:rs1567861571EnsemblClinVar.1
Natural variantiVAR_0815241236L → P in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567861894EnsemblClinVar.1
Natural variantiVAR_0815251342R → Q in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567863732Ensembl.1
Natural variantiVAR_0815261881R → L in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567877108EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0470971 – 32MKAAD…WGDRM → MASPLRDEEEEEEEMVVSEE EEEEEEEGDEEEEEEVEAAD EDDEEDDDEGVLGRGPGHDR GRDRHSPPGCHLFPPPPPPP PPLPPPPPPPP in isoform 3. CuratedAdd BLAST32
Alternative sequenceiVSP_0172311642 – 1675Missing in isoform 2. 2 PublicationsAdd BLAST34

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
U91543 mRNA Translation: AAC39923.1
AC104581 Genomic DNA No translation available.
CH471108 Genomic DNA Translation: EAW90114.1
CH471108 Genomic DNA Translation: EAW90116.1
AF006515 mRNA Translation: AAB87383.1 Different termination.
U08379 mRNA Translation: AAC50228.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS32553.2 [Q12873-3]
CCDS32554.1 [Q12873-1]
CCDS32555.1 [Q12873-2]

NCBI Reference Sequences

More...RefSeqi		NP_001005271.2, NM_001005271.2 [Q12873-3]
NP_001005273.1, NM_001005273.2 [Q12873-1]
NP_005843.2, NM_005852.3 [Q12873-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000330494; ENSP00000332628; ENSG00000170004 [Q12873-1]
ENST00000358181; ENSP00000350907; ENSG00000170004 [Q12873-2]
ENST00000380358; ENSP00000369716; ENSG00000170004 [Q12873-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1107

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1107

UCSC genome browser

More...UCSCi		uc002gjd.3, human [Q12873-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U91543 mRNA Translation: AAC39923.1
AC104581 Genomic DNA No translation available.
CH471108 Genomic DNA Translation: EAW90114.1
CH471108 Genomic DNA Translation: EAW90116.1
AF006515 mRNA Translation: AAB87383.1 Different termination.
U08379 mRNA Translation: AAC50228.1
CCDSiCCDS32553.2 [Q12873-3]
CCDS32554.1 [Q12873-1]
CCDS32555.1 [Q12873-2]
RefSeqiNP_001005271.2, NM_001005271.2 [Q12873-3]
NP_001005273.1, NM_001005273.2 [Q12873-1]
NP_005843.2, NM_005852.3 [Q12873-2]

3D structure databases

SMRiQ12873
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi107532, 689 interactors
ComplexPortaliCPX-880, MBD2/NuRD nucleosome remodeling and deacetylase complex
CPX-922, MBD3/NuRD nucleosome remodeling and deacetylase complex
CORUMiQ12873
DIPiDIP-32496N
ELMiQ12873
IntActiQ12873, 136 interactors
MINTiQ12873
STRINGi9606.ENSP00000369716

Protein family/group databases

MoonDBiQ12873, Predicted

PTM databases

GlyGeniQ12873, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ12873
MetOSiteiQ12873
PhosphoSitePlusiQ12873
SwissPalmiQ12873

Genetic variation databases

BioMutaiCHD3
DMDMi88911273

Proteomic databases

EPDiQ12873
jPOSTiQ12873
MassIVEiQ12873
MaxQBiQ12873
PaxDbiQ12873
PeptideAtlasiQ12873
PRIDEiQ12873
ProteomicsDBi20268
58995 [Q12873-1]
58996 [Q12873-2]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		Q12873, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

More...Antibodypediai		12273, 298 antibodies

The DNASU plasmid repository

More...DNASUi		1107

Genome annotation databases

EnsembliENST00000330494; ENSP00000332628; ENSG00000170004 [Q12873-1]
ENST00000358181; ENSP00000350907; ENSG00000170004 [Q12873-2]
ENST00000380358; ENSP00000369716; ENSG00000170004 [Q12873-3]
GeneIDi1107
KEGGihsa:1107
UCSCiuc002gjd.3, human [Q12873-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1107
DisGeNETi1107

GeneCards: human genes, protein and diseases

More...GeneCardsi		CHD3
HGNCiHGNC:1918, CHD3
HPAiENSG00000170004, Low tissue specificity
MalaCardsiCHD3
MIMi602120, gene
618205, phenotype
neXtProtiNX_Q12873
OpenTargetsiENSG00000170004
PharmGKBiPA26454
VEuPathDBiHostDB:ENSG00000170004

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0383, Eukaryota
GeneTreeiENSGT00940000158001
HOGENOMiCLU_000315_22_2_1
InParanoidiQ12873
OMAiWSCPTCE
OrthoDBi54215at2759
PhylomeDBiQ12873
TreeFamiTF106448

Enzyme and pathway databases

PathwayCommonsiQ12873
ReactomeiR-HSA-3214815, HDACs deacetylate histones
R-HSA-427389, ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
R-HSA-4551638, SUMOylation of chromatin organization proteins
R-HSA-6804758, Regulation of TP53 Activity through Acetylation
R-HSA-73762, RNA Polymerase I Transcription Initiation
R-HSA-8943724, Regulation of PTEN gene transcription
R-HSA-9679191, Potential therapeutics for SARS
SIGNORiQ12873

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1107, 3 hits in 1025 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		CHD3, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CHD3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		1107
PharosiQ12873, Tbio

Protein Ontology

More...PROi		PR:Q12873
RNActiQ12873, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000170004, Expressed in cortical plate and 228 other tissues
ExpressionAtlasiQ12873, baseline and differential
GenevisibleiQ12873, HS

Family and domain databases

Gene3Di1.10.30.10, 1 hit
3.30.40.10, 2 hits
3.40.50.10810, 1 hit
3.40.50.300, 1 hit
InterProiView protein in InterPro
IPR012957, CHD_C2
IPR012958, CHD_N
IPR016197, Chromo-like_dom_sf
IPR000953, Chromo/chromo_shadow_dom
IPR023780, Chromo_domain
IPR023779, Chromodomain_CS
IPR002464, DNA/RNA_helicase_DEAH_CS
IPR009462, DUF1086
IPR009463, DUF1087
IPR014001, Helicase_ATP-bd
IPR001650, Helicase_C
IPR036910, HMG_box_dom_sf
IPR027417, P-loop_NTPase
IPR038718, SNF2-like_sf
IPR000330, SNF2_N
IPR019786, Zinc_finger_PHD-type_CS
IPR011011, Znf_FYVE_PHD
IPR001965, Znf_PHD
IPR019787, Znf_PHD-finger
IPR013083, Znf_RING/FYVE/PHD
PfamiView protein in Pfam
PF08074, CHDCT2, 1 hit
PF08073, CHDNT, 1 hit
PF00385, Chromo, 1 hit
PF06461, DUF1086, 1 hit
PF06465, DUF1087, 1 hit
PF00271, Helicase_C, 1 hit
PF00628, PHD, 2 hits
PF00176, SNF2_N, 1 hit
SMARTiView protein in SMART
SM00298, CHROMO, 2 hits
SM00487, DEXDc, 1 hit
SM01146, DUF1086, 1 hit
SM01147, DUF1087, 1 hit
SM00490, HELICc, 1 hit
SM00249, PHD, 2 hits
SUPFAMiSSF47095, SSF47095, 1 hit
SSF52540, SSF52540, 2 hits
SSF54160, SSF54160, 2 hits
SSF57903, SSF57903, 1 hit
PROSITEiView protein in PROSITE
PS00598, CHROMO_1, 1 hit
PS50013, CHROMO_2, 2 hits
PS00690, DEAH_ATP_HELICASE, 1 hit
PS51192, HELICASE_ATP_BIND_1, 1 hit
PS51194, HELICASE_CTER, 1 hit
PS01359, ZF_PHD_1, 2 hits
PS50016, ZF_PHD_2, 2 hits

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCHD3_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q12873
Secondary accession number(s): D3DTQ9, E9PG89, Q9Y4I0
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: February 7, 2006
Last modified: September 29, 2021
This is version 220 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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