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Entry version 193 (17 Jun 2020)
Sequence version 5 (11 Jan 2011)
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Protein

Chromodomain-helicase-DNA-binding protein 8

Gene

CHD8

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

DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive genes. Involved in both enhancer blocking and epigenetic remodeling at chromatin boundary via its interaction with CTCF. Acts as a suppressor of STAT3 activity by suppressing the LIF-induced STAT3 transcriptional activity. Also acts as a transcription activator via its interaction with ZNF143 by participating in efficient U6 RNA polymerase III transcription.UniRule annotation2 Publications

Miscellaneous

Its gene is located in the 14q11.2 region of the genome which is associated with developmental delay, cognitive impairment and similar minor anomalies in some children, suggesting that it may be a good candidate for the phenotype.

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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%5Fsection">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 bindingi836 – 843ATPUniRule 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

GO - Biological processi

<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 functionActivator, Chromatin regulator, DNA-binding, Helicase, Hydrolase, Repressor
Biological processTranscription, Transcription regulation, Wnt signaling pathway
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-3769402 Deactivation of the beta-catenin transactivating complex

SIGNOR Signaling Network Open Resource

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SIGNORi
Q9HCK8

<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%5Fand%5Ftaxonomy%5Fsection">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 8UniRule annotation (EC:3.6.4.12UniRule annotation)
Short name:
CHD-8UniRule annotation
Alternative name(s):
ATP-dependent helicase CHD8UniRule annotation
Helicase with SNF2 domain 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:CHD8UniRule annotation
Synonyms:HELSNF1, KIAA1564
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000100888.12

Human Gene Nomenclature Database

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HGNCi
HGNC:20153 CHD8

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
610528 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9HCK8

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

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

Autism 18 (AUTS18)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.
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_078704744V → I in AUTS18; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs996150988Ensembl.1
Natural variantiVAR_0695732498Missing in AUTS18. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi842K → R: Abolishes ATPase activity. 1 Publication1

Keywords - Diseasei

Autism, Autism spectrum disorder, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
57680

MalaCards human disease database

More...
MalaCardsi
CHD8
MIMi615032 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000100888

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
106 NON RARE IN EUROPE: Autism

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134957052

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9HCK8 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CHD8

Domain mapping of disease mutations (DMDM)

More...
DMDMi
317373586

<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_00000802331 – 2581Chromodomain-helicase-DNA-binding protein 8Add BLAST2581

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 residuei432PhosphoserineCombined sources1
Modified residuei553PhosphoserineCombined sources1
Modified residuei562PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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-linki609Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)UniRule annotation
Modified residuei1420PhosphoserineCombined sources1
Modified residuei1424PhosphoserineCombined sources1
Modified residuei1976PhosphoserineCombined sources1
Modified residuei1978PhosphoserineCombined sources1
Modified residuei1993PhosphothreonineCombined sources1
Modified residuei1995PhosphoserineBy similarity1
Modified residuei2008PhosphoserineCombined sources1
Cross-linki2025Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei2046PhosphoserineCombined sources1
Modified residuei2051PhosphothreonineCombined sources1
Modified residuei2069PhosphoserineCombined sources1
Modified residuei2071PhosphoserineCombined sources1
Modified residuei2182PhosphoserineCombined sources1
Modified residuei2200PhosphoserineCombined sources1
Modified residuei2202PhosphoserineBy similarity1
Modified residuei2204PhosphothreonineBy similarity1
Modified residuei2211PhosphoserineCombined sources1
Modified residuei2215PhosphothreonineBy similarity1
Modified residuei2223PhosphoserineBy similarity1
Cross-linki2256Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei2519PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

Sumoylated.UniRule annotation

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9HCK8

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9HCK8

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9HCK8

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9HCK8

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

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PaxDbi
Q9HCK8

PeptideAtlas

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PeptideAtlasi
Q9HCK8

PRoteomics IDEntifications database

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PRIDEi
Q9HCK8

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
81748 [Q9HCK8-1]
81749 [Q9HCK8-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9HCK8

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

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PhosphoSitePlusi
Q9HCK8

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000100888 Expressed in cerebellar hemisphere and 224 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9HCK8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9HCK8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000100888 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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with p53/TP53, histone H1, CTNNB1, CTCF and PIAS3.

Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10.

Interacts with CHD7.

Interacts with FAM124B (PubMed:23285124).

UniRule annotation6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
121709, 92 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9HCK8

Database of interacting proteins

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DIPi
DIP-38021N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q9HCK8

Protein interaction database and analysis system

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IntActi
Q9HCK8, 56 interactors

Molecular INTeraction database

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MINTi
Q9HCK8

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000382863

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q9HCK8 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

Secondary structure

12581
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q9HCK8

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9HCK8

<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%5Fand%5Fdomains%5Fsection">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>Domaini642 – 709Chromo 1UniRule annotationAdd BLAST68
Domaini724 – 790Chromo 2UniRule annotationAdd BLAST67
Domaini823 – 997Helicase ATP-bindingUniRule annotationAdd BLAST175
Domaini1137 – 1288Helicase C-terminalUniRule annotationAdd BLAST152

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>Regioni1789 – 2302Interaction with FAM124BUniRule annotation1 PublicationAdd BLAST514

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>Motifi948 – 951DEAH boxUniRule annotation4

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 amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi292 – 410Gln-richUniRule annotationAdd BLAST119
Compositional biasi2069 – 2098Ser-richUniRule annotationAdd BLAST30
Compositional biasi2493 – 2508His-richUniRule annotationAdd BLAST16
Compositional biasi2539 – 2581Asp-richUniRule annotationAdd BLAST43

<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. CHD8 subfamily.UniRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0383 Eukaryota
COG0553 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153649

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_000315_5_2_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9HCK8

KEGG Orthology (KO)

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KOi
K04494

Identification of Orthologs from Complete Genome Data

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OMAi
QANAWKK

Database of Orthologous Groups

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OrthoDBi
7181at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9HCK8

TreeFam database of animal gene trees

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TreeFami
TF313572

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.20.28.130, 1 hit
3.40.50.10810, 1 hit

HAMAP database of protein families

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HAMAPi
MF_03071 CHD8, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR006576 BRK_domain
IPR037259 BRK_sf
IPR034724 CHD8
IPR016197 Chromo-like_dom_sf
IPR000953 Chromo/chromo_shadow_dom
IPR023780 Chromo_domain
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07533 BRK, 1 hit
PF00385 Chromo, 2 hits
PF00271 Helicase_C, 1 hit
PF00176 SNF2_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00592 BRK, 2 hits
SM00298 CHROMO, 2 hits
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF160481 SSF160481, 1 hit
SSF52540 SSF52540, 2 hits
SSF54160 SSF54160, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50013 CHROMO_2, 1 hit
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

<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%5Flength">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 (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 2 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9HCK8-1) [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
MADPIMDLFD DPNLFGLDSL TDDSFNQVTQ DPIEEALGLP SSLDSLDQMN
60 70 80 90 100
QDGGGGDVGN SSASELVPPP EETAPTELSK ESTAPAPESI TLHDYTTQPA
110 120 130 140 150
SQEQPAQPVL QTSTPTSGLL QVSKSQEILS QGNPFMGVSA TAVSSSSAGG
160 170 180 190 200
QPPQSAPKIV ILKAPPSSSV TGAHVAQIQA QGITSTAQPL VAGTANGGKV
210 220 230 240 250
TFTKVLTGTP LRPGVSIVSG NTVLAAKVPG NQAAVQRIVQ PSRPVKQLVL
260 270 280 290 300
QPVKGSAPAG NPGATGPPLK PAVTLTSTPT QGESKRITLV LQQPQSGGPQ
310 320 330 340 350
GHRHVVLGSL PGKIVLQGNQ LAALTQAKNA QGQPAKVVTI QLQVQQPQQK
360 370 380 390 400
IQIVPQPPSS QPQPQQPPST QPVTLSSVQQ AQIMGPGQSP GQRLSVPVKV
410 420 430 440 450
VLQPQAGSSQ GASSGLSVVK VLSASEVAAL SSPASSAPHS GGKTGMEENR
460 470 480 490 500
RLEHQKKQEK ANRIVAEAIA RARARGEQNI PRVLNEDELP SVRPEEEGEK
510 520 530 540 550
KRRKKSAGER LKEEKPKKSK TSGASKTKGK SKLNTITPVV GKKRKRNTSS
560 570 580 590 600
DNSDVEVMPA QSPREDEESS IQKRRSNRQV KRKKYTEDLD IKITDDEEEE
610 620 630 640 650
EVDVTGPIKP EPILPEPVQE PDGETLPSMQ FFVENPSEED AAIVDKVLSM
660 670 680 690 700
RIVKKELPSG QYTEAEEFFV KYKNYSYLHC EWATISQLEK DKRIHQKLKR
710 720 730 740 750
FKTKMAQMRH FFHEDEEPFN PDYVEVDRIL DESHSIDKDN GEPVIYYLVK
760 770 780 790 800
WCSLPYEDST WELKEDVDEG KIREFKRIQS RHPELKRVNR PQASAWKKLE
810 820 830 840 850
LSHEYKNRNQ LREYQLEGVN WLLFNWYNRQ NCILADEMGL GKTIQSIAFL
860 870 880 890 900
QEVYNVGIHG PFLVIAPLST ITNWEREFNT WTEMNTIVYH GSLASRQMIQ
910 920 930 940 950
QYEMYCKDSR GRLIPGAYKF DALITTFEMI LSDCPELREI EWRCVIIDEA
960 970 980 990 1000
HRLKNRNCKL LDSLKHMDLE HKVLLTGTPL QNTVEELFSL LHFLEPSQFP
1010 1020 1030 1040 1050
SESEFLKDFG DLKTEEQVQK LQAILKPMML RRLKEDVEKN LAPKQETIIE
1060 1070 1080 1090 1100
VELTNIQKKY YRAILEKNFS FLSKGAGHTN MPNLLNTMME LRKCCNHPYL
1110 1120 1130 1140 1150
INGAEEKILT EFREACHIIP HDFHLQAMVR SAGKLVLIDK LLPKLKAGGH
1160 1170 1180 1190 1200
KVLIFSQMVR CLDILEDYLI QRRYLYERID GRVRGNLRQA AIDRFSKPDS
1210 1220 1230 1240 1250
DRFVFLLCTR AGGLGINLTA ADTCIIFDSD WNPQNDLQAQ ARCHRIGQSK
1260 1270 1280 1290 1300
AVKVYRLITR NSYEREMFDK ASLKLGLDKA VLQSMSGRDG NITGIQQFSK
1310 1320 1330 1340 1350
KEIEDLLRKG AYAAIMEEDD EGSKFCEEDI DQILLRRTTT ITIESEGKGS
1360 1370 1380 1390 1400
TFAKASFVAS ENRTDISLDD PNFWQKWAKK ADLDMDLLNS KNNLVIDTPR
1410 1420 1430 1440 1450
VRKQTRHFST LKDDDLVEFS DLESEDDERP RSRRHDRHHA YGRTDCFRVE
1460 1470 1480 1490 1500
KHLLVYGWGR WRDILSHGRF KRRMTERDVE TICRAILVYC LLHYRGDENI
1510 1520 1530 1540 1550
KGFIWDLISP AENGKTKELQ NHSGLSIPVP RGRKGKKVKS QSTFDIHKAD
1560 1570 1580 1590 1600
WIRKYNPDTL FQDESYKKHL KHQCNKVLLR VRMLYYLRQE VIGDQAEKVL
1610 1620 1630 1640 1650
GGAIASEIDI WFPVVDQLEV PTTWWDSEAD KSLLIGVFKH GYEKYNTMRA
1660 1670 1680 1690 1700
DPALCFLEKA GRPDDKAIAA EHRVLDNFSD IVEGVDFDKD CEDPEYKPLQ
1710 1720 1730 1740 1750
GPPKDQDDEG DPLMMMDEEI SVIDGDEAQV TQQPGHLFWP PGSALTARLR
1760 1770 1780 1790 1800
RLVTAYQRSY KREQMKIEAA ERGDRRRRRC EAAFKLKEIA RREKQQRWTR
1810 1820 1830 1840 1850
REQTDFYRVV STFGVEYDPD TMQFHWDRFR TFARLDKKTD ESLTKYFHGF
1860 1870 1880 1890 1900
VAMCRQVCRL PPAAGDEPPD PNLFIEPITE ERASRTLYRI ELLRRLREQV
1910 1920 1930 1940 1950
LCHPLLEDRL ALCQPPGPEL PKWWEPVRHD GELLRGAARH GVSQTDCNIM
1960 1970 1980 1990 2000
QDPDFSFLAA RMNYMQNHQA GAPAPSLSRC STPLLHQQYT SRTASPLPLR
2010 2020 2030 2040 2050
PDAPVEKSPE ETATQVPSLE SLTLKLEHEV VARSRPTPQD YEMRVSPSDT
2060 2070 2080 2090 2100
TPLVSRSVPP VKLEDEDDSD SELDLSKLSP SSSSSSSSSS SSSSTDESED
2110 2120 2130 2140 2150
EKEEKLTDQS RSKLYDEESL LSLTMSQDGF PNEDGEQMTP ELLLLQERQR
2160 2170 2180 2190 2200
ASEWPKDRVL INRIDLVCQA VLSGKWPSSR RSQEMVTGGI LGPGNHLLDS
2210 2220 2230 2240 2250
PSLTPGEYGD SPVPTPRSSS AASMAEEEAS AVSTAAAQFT KLRRGMDEKE
2260 2270 2280 2290 2300
FTVQIKDEEG LKLTFQKHKL MANGVMGDGH PLFHKKKGNR KKLVELEVEC
2310 2320 2330 2340 2350
MEEPNHLDVD LETRIPVINK VDGTLLVGED APRRAELEMW LQGHPEFAVD
2360 2370 2380 2390 2400
PRFLAYMEDR RKQKWQRCKK NNKAELNCLG MEPVQTANSR NGKKGHHTET
2410 2420 2430 2440 2450
VFNRVLPGPI APESSKKRAR RMRPDLSKMM ALMQGGSTGS LSLHNTFQHS
2460 2470 2480 2490 2500
SSGLQSVSSL GHSSATSASL PFMPFVMGGA PSSPHVDSST MLHHHHHHPH
2510 2520 2530 2540 2550
PHHHHHHHPG LRAPGYPSSP VTTASGTTLR LPPLQPEEDD DEDEEDDDDL
2560 2570 2580
SQGYDSSERD FSLIDDPMMP ANSDSSEDAD D
Length:2,581
Mass (Da):290,519
Last modified:January 11, 2011 - v5
<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:i379F09DC6F814851
GO
Isoform 2 (identifier: Q9HCK8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-281: MADPIMDLFD...AVTLTSTPTQ → MK

Show »
Length:2,302
Mass (Da):262,348
Checksum:i3BA9FCDF2186AC0F
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V303G3V303_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD8
151Annotation 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>
H0YJG4H0YJG4_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD8
1,815Annotation 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>
H0YJA4H0YJA4_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD8
372Annotation 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>
A0A2R8Y4P3A0A2R8Y4P3_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD8
1,102Annotation 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>
A0A2R8Y840A0A2R8Y840_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD8
1,995Annotation 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>
A0A2R8Y808A0A2R8Y808_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD8
586Annotation 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>
A0A2R8YFT4A0A2R8YFT4_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD8
305Annotation 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>
G3V2T9G3V2T9_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD8
98Annotation 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>
A0A2R8YFI9A0A2R8YFI9_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD8
102Annotation 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>

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 conflicti594T → A in CAH18170 (PubMed:17974005).Curated1
Sequence conflicti1008D → N in CAH18170 (PubMed:17974005).Curated1
Sequence conflicti2481P → Q in CAH18170 (PubMed:17974005).Curated1
Sequence conflicti2568M → I in AAH36920 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078704744V → I in AUTS18; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs996150988Ensembl.1
Natural variantiVAR_0695732498Missing in AUTS18. 1 Publication1

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_0172701 – 281MADPI…STPTQ → MK in isoform 2. 1 PublicationAdd BLAST281

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
CR749315 mRNA Translation: CAH18170.1
AL834524 mRNA Translation: CAD39180.1
AL135744 Genomic DNA No translation available.
AL161747 Genomic DNA No translation available.
CB043942 mRNA No translation available.
AB046784 mRNA Translation: BAB13390.3
AK131077 mRNA Translation: BAC85127.1
BC011695 mRNA Translation: AAH11695.2
BC025964 mRNA Translation: AAH25964.1
BC036920 mRNA Translation: AAH36920.1
BC063693 mRNA Translation: AAH63693.1
BC073903 mRNA Translation: AAH73903.1
BC098452 mRNA Translation: AAH98452.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS45081.1 [Q9HCK8-2]
CCDS53885.1 [Q9HCK8-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001164100.1, NM_001170629.1 [Q9HCK8-1]
NP_065971.2, NM_020920.3 [Q9HCK8-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000399982; ENSP00000382863; ENSG00000100888 [Q9HCK8-1]
ENST00000430710; ENSP00000406288; ENSG00000100888 [Q9HCK8-2]
ENST00000557364; ENSP00000451601; ENSG00000100888 [Q9HCK8-1]
ENST00000643469; ENSP00000495070; ENSG00000100888 [Q9HCK8-1]
ENST00000645929; ENSP00000494402; ENSG00000100888 [Q9HCK8-2]
ENST00000646647; ENSP00000495240; ENSG00000100888 [Q9HCK8-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
57680

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:57680

UCSC genome browser

More...
UCSCi
uc001war.3 human [Q9HCK8-1]

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
CR749315 mRNA Translation: CAH18170.1
AL834524 mRNA Translation: CAD39180.1
AL135744 Genomic DNA No translation available.
AL161747 Genomic DNA No translation available.
CB043942 mRNA No translation available.
AB046784 mRNA Translation: BAB13390.3
AK131077 mRNA Translation: BAC85127.1
BC011695 mRNA Translation: AAH11695.2
BC025964 mRNA Translation: AAH25964.1
BC036920 mRNA Translation: AAH36920.1
BC063693 mRNA Translation: AAH63693.1
BC073903 mRNA Translation: AAH73903.1
BC098452 mRNA Translation: AAH98452.1
CCDSiCCDS45081.1 [Q9HCK8-2]
CCDS53885.1 [Q9HCK8-1]
RefSeqiNP_001164100.1, NM_001170629.1 [Q9HCK8-1]
NP_065971.2, NM_020920.3 [Q9HCK8-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CKANMR-A2291-2364[»]
2DL6NMR-A2303-2372[»]
SMRiQ9HCK8
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi121709, 92 interactors
CORUMiQ9HCK8
DIPiDIP-38021N
ELMiQ9HCK8
IntActiQ9HCK8, 56 interactors
MINTiQ9HCK8
STRINGi9606.ENSP00000382863

PTM databases

iPTMnetiQ9HCK8
PhosphoSitePlusiQ9HCK8

Polymorphism and mutation databases

BioMutaiCHD8
DMDMi317373586

Proteomic databases

EPDiQ9HCK8
jPOSTiQ9HCK8
MassIVEiQ9HCK8
MaxQBiQ9HCK8
PaxDbiQ9HCK8
PeptideAtlasiQ9HCK8
PRIDEiQ9HCK8
ProteomicsDBi81748 [Q9HCK8-1]
81749 [Q9HCK8-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
73 116 antibodies

Genome annotation databases

EnsembliENST00000399982; ENSP00000382863; ENSG00000100888 [Q9HCK8-1]
ENST00000430710; ENSP00000406288; ENSG00000100888 [Q9HCK8-2]
ENST00000557364; ENSP00000451601; ENSG00000100888 [Q9HCK8-1]
ENST00000643469; ENSP00000495070; ENSG00000100888 [Q9HCK8-1]
ENST00000645929; ENSP00000494402; ENSG00000100888 [Q9HCK8-2]
ENST00000646647; ENSP00000495240; ENSG00000100888 [Q9HCK8-1]
GeneIDi57680
KEGGihsa:57680
UCSCiuc001war.3 human [Q9HCK8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
57680
DisGeNETi57680
EuPathDBiHostDB:ENSG00000100888.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CHD8
HGNCiHGNC:20153 CHD8
HPAiENSG00000100888 Low tissue specificity
MalaCardsiCHD8
MIMi610528 gene
615032 phenotype
neXtProtiNX_Q9HCK8
OpenTargetsiENSG00000100888
Orphaneti106 NON RARE IN EUROPE: Autism
PharmGKBiPA134957052

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0383 Eukaryota
COG0553 LUCA
GeneTreeiENSGT00940000153649
HOGENOMiCLU_000315_5_2_1
InParanoidiQ9HCK8
KOiK04494
OMAiQANAWKK
OrthoDBi7181at2759
PhylomeDBiQ9HCK8
TreeFamiTF313572

Enzyme and pathway databases

ReactomeiR-HSA-3769402 Deactivation of the beta-catenin transactivating complex
SIGNORiQ9HCK8

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
57680 95 hits in 798 CRISPR screens

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

More...
ChiTaRSi
CHD8 human
EvolutionaryTraceiQ9HCK8

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CHD8

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

More...
GenomeRNAii
57680
PharosiQ9HCK8 Tbio

Protein Ontology

More...
PROi
PR:Q9HCK8
RNActiQ9HCK8 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000100888 Expressed in cerebellar hemisphere and 224 other tissues
ExpressionAtlasiQ9HCK8 baseline and differential
GenevisibleiQ9HCK8 HS

Family and domain databases

Gene3Di2.20.28.130, 1 hit
3.40.50.10810, 1 hit
HAMAPiMF_03071 CHD8, 1 hit
InterProiView protein in InterPro
IPR006576 BRK_domain
IPR037259 BRK_sf
IPR034724 CHD8
IPR016197 Chromo-like_dom_sf
IPR000953 Chromo/chromo_shadow_dom
IPR023780 Chromo_domain
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
PfamiView protein in Pfam
PF07533 BRK, 1 hit
PF00385 Chromo, 2 hits
PF00271 Helicase_C, 1 hit
PF00176 SNF2_N, 1 hit
SMARTiView protein in SMART
SM00592 BRK, 2 hits
SM00298 CHROMO, 2 hits
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF160481 SSF160481, 1 hit
SSF52540 SSF52540, 2 hits
SSF54160 SSF54160, 2 hits
PROSITEiView protein in PROSITE
PS50013 CHROMO_2, 1 hit
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

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 nameiCHD8_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: Q9HCK8
Secondary accession number(s): Q4G0D8
, Q68DQ0, Q6DKH9, Q6P440, Q6ZNL7, Q8N3Z9, Q8NCY4, Q8TBR9, Q96F26
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: January 11, 2011
Last modified: June 17, 2020
This is version 193 of the entry and version 5 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

3D-structure, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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