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UniProtKB - O14646 (CHD1_HUMAN)

Entry version 199 (02 Jun 2021)
Sequence version 2 (24 Nov 2009)
Previous versions | rss
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Protein

Chromodomain-helicase-DNA-binding protein 1

Gene

CHD1

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

ATP-dependent chromatin-remodeling factor which functions as substrate recognition component of the transcription regulatory histone acetylation (HAT) complex SAGA. Regulates polymerase II transcription. Also required for efficient transcription by RNA polymerase I, and more specifically the polymerase I transcription termination step. Regulates negatively DNA replication. Not only involved in transcription-related chromatin-remodeling, but also required to maintain a specific chromatin configuration across the genome. Is also associated with histone deacetylase (HDAC) activity (By similarity).

Required for the bridging of SNF2, the FACT complex, the PAF complex as well as the U2 snRNP complex to H3K4me3. Functions to modulate the efficiency of pre-mRNA splicing in part through physical bridging of spliceosomal components to H3K4me3 (PubMed:18042460, PubMed:28866611).

Required for maintaining open chromatin and pluripotency in embryonic stem cells (By similarity).

By similarity2 Publications

<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 bindingi506 – 513ATPPROSITE-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, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O14646

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-9018519, Estrogen-dependent gene expression

<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 1 (EC:3.6.4.12)
Short name:
CHD-1
Alternative name(s):
ATP-dependent helicase CHD1
<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:CHD1
<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 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%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 5

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:1915, CHD1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602118, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O14646

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000153922.10

<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, 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

Pilarowski-Bjornsson syndrome (PILBOS)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by developmental delay, speech apraxia, intellectual disability, autism, and facial dysmorphic features. Some patients may have seizures.
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_080265141R → G in PILBOS. 1 PublicationCorresponds to variant dbSNP:rs1064795875EnsemblClinVar.1
Natural variantiVAR_080266460R → K in PILBOS. 1 PublicationCorresponds to variant dbSNP:rs1554078856EnsemblClinVar.1
Natural variantiVAR_080267618R → Q in PILBOS; patient cells show a global increase of methylated histone binding. 1 PublicationCorresponds to variant dbSNP:rs1554078349EnsemblClinVar.1
Natural variantiVAR_0802681708R → Q in PILBOS. 1 PublicationCorresponds to variant dbSNP:rs1293161341EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		1105

MalaCards human disease database

More...MalaCardsi		CHD1
MIMi617682, phenotype

Open Targets

More...OpenTargetsi		ENSG00000153922

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26451

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O14646, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4523123

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CHD1

<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_00000802241 – 1710Chromodomain-helicase-DNA-binding protein 1Add BLAST1710

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 residuei215PhosphoserineCombined sources1
Modified residuei216PhosphoserineCombined sources1
Modified residuei237PhosphothreonineCombined sources1
Modified residuei241PhosphoserineCombined sources1
Modified residuei250PhosphothreonineCombined sources1
Modified residuei252PhosphoserineCombined sources1
Modified residuei471PhosphoserineCombined sources1
Modified residuei1025PhosphoserineCombined sources1
Modified residuei1040PhosphoserineCombined sources1
Modified residuei1081PhosphoserineCombined sources1
Modified residuei1085PhosphoserineBy similarity1
Modified residuei1096PhosphoserineCombined sources1
Modified residuei1098PhosphoserineCombined sources1
Modified residuei1100PhosphoserineCombined sources1
Modified residuei1102PhosphoserineCombined sources1
Modified residuei1161PhosphoserineCombined sources1
Modified residuei1353PhosphoserineCombined sources1
Modified residuei1355PhosphoserineCombined sources1
Modified residuei1356PhosphoserineCombined sources1
Modified residuei1360PhosphoserineCombined sources1
Modified residuei1363PhosphoserineCombined sources1
Modified residuei1371PhosphoserineCombined sources1
Modified residuei1373PhosphoserineBy similarity1
Modified residuei1622PhosphoserineCombined sources1
Modified residuei1677PhosphoserineCombined sources1
Modified residuei1689PhosphoserineCombined sources1
Isoform 2 (identifier: O14646-2)
Modified residuei1688PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O14646

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O14646

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O14646

MaxQB - The MaxQuant DataBase

More...MaxQBi		O14646

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

More...PaxDbi		O14646

PeptideAtlas

More...PeptideAtlasi		O14646

PRoteomics IDEntifications database

More...PRIDEi		O14646

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		48142 [O14646-1]
48143 [O14646-2]

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		O14646

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O14646

MetOSite database of methionine sulfoxide sites

More...MetOSitei		O14646

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

More...PhosphoSitePlusi		O14646

<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

Expressed in many tissues including in the brain, where the highest level of expression is found in the cerebellum and basal ganglia.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000153922, Expressed in intestine and 234 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O14646, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O14646, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000153922, Tissue enhanced (lymphoid)

<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

Component of the SAGA complex (By similarity).

Interacts with BCLAF1, NCoR, SRP20 and SAFB (By similarity). Specifically interacts with methylated H3K4me2 and H3K4me3.

Interacts with the FACT complex, the PAF complex and the U2 snRNP.

Interacts directly with PAF1, SFA3A1, SFA3A2, SFA3A3, SNF2 and SSRP1.

By similarity4 Publications

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

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		107530, 83 interactors

Database of interacting proteins

More...DIPi		DIP-38922N

Protein interaction database and analysis system

More...IntActi		O14646, 21 interactors

Molecular INTeraction database

More...MINTi		O14646

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000483667

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O14646, 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

11710
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

More...SMRi		O14646

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		O14646

<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>Domaini272 – 364Chromo 1PROSITE-ProRule annotationAdd BLAST93
Domaini389 – 452Chromo 2PROSITE-ProRule annotationAdd BLAST64
Domaini493 – 663Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST171
Domaini792 – 943Helicase C-terminalPROSITE-ProRule annotationAdd BLAST152
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati1628 – 163215
Repeati1634 – 163825
Repeati1640 – 164435

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>Regioni1 – 252DisorderedSequence analysisAdd BLAST252
Regioni1080 – 1120DisorderedSequence analysisAdd BLAST41
Regioni1321 – 1408DisorderedSequence analysisAdd BLAST88
Regioni1502 – 1710DisorderedSequence analysisAdd BLAST209
Regioni1628 – 16443 X 5 AA repeats of H-S-D-H-RAdd BLAST17

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>Motifi614 – 617DEAH 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 biasi12 – 63Polar residuesSequence analysisAdd BLAST52
Compositional biasi64 – 78Basic and acidic residuesSequence analysisAdd BLAST15
Compositional biasi92 – 125Polar residuesSequence analysisAdd BLAST34
Compositional biasi133 – 150Basic and acidic residuesSequence analysisAdd BLAST18
Compositional biasi163 – 190Basic and acidic residuesSequence analysisAdd BLAST28
Compositional biasi191 – 206Basic residuesSequence analysisAdd BLAST16
Compositional biasi226 – 252Basic and acidic residuesSequence analysisAdd BLAST27
Compositional biasi1087 – 1108Basic and acidic residuesSequence analysisAdd BLAST22
Compositional biasi1343 – 1386Basic and acidic residuesSequence analysisAdd BLAST44
Compositional biasi1507 – 1521Polar residuesSequence analysisAdd BLAST15
Compositional biasi1524 – 1666Basic and acidic residuesSequence analysisAdd BLAST143
Compositional biasi1667 – 1688Polar residuesSequence analysisAdd BLAST22
Compositional biasi1691 – 1710Basic and acidic residuesSequence analysisAdd BLAST20

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The 2 chromodomains are involved in the binding to the histone H3 methyllysine at position 4 (H3K4me3).

<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

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0384, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156579

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000315_8_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O14646

Identification of Orthologs from Complete Genome Data

More...OMAi		PAWQETF

Database of Orthologous Groups

More...OrthoDBi		57339at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O14646

TreeFam database of animal gene trees

More...TreeFami		TF313461

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.50.10810, 1 hit

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00003

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR040793, CDH1_2_SANT_HL1
IPR016197, Chromo-like_dom_sf
IPR000953, Chromo/chromo_shadow_dom
IPR023780, Chromo_domain
IPR023779, Chromodomain_CS
IPR025260, DUF4208
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
PF18375, CDH1_2_SANT_HL1, 1 hit
PF00385, Chromo, 2 hits
PF13907, DUF4208, 1 hit
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
SM00298, CHROMO, 2 hits
SM00487, DEXDc, 1 hit
SM01176, DUF4208, 1 hit
SM00490, HELICc, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540, SSF52540, 2 hits
SSF54160, SSF54160, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00598, CHROMO_1, 2 hits
PS50013, CHROMO_2, 2 hits
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.<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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O14646-1) [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
MNGHSDEESV RNSSGESSQS DDDSGSASGS GSGSSSGSSS DGSSSQSGSS 
        60         70         80         90        100
DSDSGSESGS QSESESDTSR ENKVQAKPPK VDGAEFWKSS PSILAVQRSA 
       110        120        130        140        150
ILKKQQQQQQ QQQHQASSNS GSEEDSSSSE DSDDSSSEVK RKKHKDEDWQ 
       160        170        180        190        200
MSGSGSPSQS GSDSESEEER EKSSCDETES DYEPKNKVKS RKPQNRSKSK 
       210        220        230        240        250
NGKKILGQKK RQIDSSEEDD DEEDYDNDKR SSRRQATVNV SYKEDEEMKT 
       260        270        280        290        300
DSDDLLEVCG EDVPQPEEEE FETIERFMDC RIGRKGATGA TTTIYAVEAD 
       310        320        330        340        350
GDPNAGFEKN KEPGEIQYLI KWKGWSHIHN TWETEETLKQ QNVRGMKKLD 
       360        370        380        390        400
NYKKKDQETK RWLKNASPED VEYYNCQQEL TDDLHKQYQI VERIIAHSNQ 
       410        420        430        440        450
KSAAGYPDYY CKWQGLPYSE CSWEDGALIS KKFQACIDEY FSRNQSKTTP 
       460        470        480        490        500
FKDCKVLKQR PRFVALKKQP SYIGGHEGLE LRDYQLNGLN WLAHSWCKGN 
       510        520        530        540        550
SCILADEMGL GKTIQTISFL NYLFHEHQLY GPFLLVVPLS TLTSWQREIQ 
       560        570        580        590        600
TWASQMNAVV YLGDINSRNM IRTHEWTHHQ TKRLKFNILL TTYEILLKDK 
       610        620        630        640        650
AFLGGLNWAF IGVDEAHRLK NDDSLLYKTL IDFKSNHRLL ITGTPLQNSL 
       660        670        680        690        700
KELWSLLHFI MPEKFSSWED FEEEHGKGRE YGYASLHKEL EPFLLRRVKK 
       710        720        730        740        750
DVEKSLPAKV EQILRMEMSA LQKQYYKWIL TRNYKALSKG SKGSTSGFLN 
       760        770        780        790        800
IMMELKKCCN HCYLIKPPDN NEFYNKQEAL QHLIRSSGKL ILLDKLLIRL 
       810        820        830        840        850
RERGNRVLIF SQMVRMLDIL AEYLKYRQFP FQRLDGSIKG ELRKQALDHF 
       860        870        880        890        900
NAEGSEDFCF LLSTRAGGLG INLASADTVV IFDSDWNPQN DLQAQARAHR 
       910        920        930        940        950
IGQKKQVNIY RLVTKGSVEE DILERAKKKM VLDHLVIQRM DTTGKTVLHT 
       960        970        980        990       1000
GSAPSSSTPF NKEELSAILK FGAEELFKEP EGEEQEPQEM DIDEILKRAE 
      1010       1020       1030       1040       1050
THENEPGPLT VGDELLSQFK VANFSNMDED DIELEPERNS KNWEEIIPED 
      1060       1070       1080       1090       1100
QRRRLEEEER QKELEEIYML PRMRNCAKQI SFNGSEGRRS RSRRYSGSDS 
      1110       1120       1130       1140       1150
DSISEGKRPK KRGRPRTIPR ENIKGFSDAE IRRFIKSYKK FGGPLERLDA 
      1160       1170       1180       1190       1200
IARDAELVDK SETDLRRLGE LVHNGCIKAL KDSSSGTERT GGRLGKVKGP 
      1210       1220       1230       1240       1250
TFRISGVQVN AKLVISHEEE LIPLHKSIPS DPEERKQYTI PCHTKAAHFD 
      1260       1270       1280       1290       1300
IDWGKEDDSN LLIGIYEYGY GSWEMIKMDP DLSLTHKILP DDPDKKPQAK 
      1310       1320       1330       1340       1350
QLQTRADYLI KLLSRDLAKK EALSGAGSSK RRKARAKKNK AMKSIKVKEE 
      1360       1370       1380       1390       1400
IKSDSSPLPS EKSDEDDDKL SESKSDGRER SKKSSVSDAP VHITASGEPV 
      1410       1420       1430       1440       1450
PISEESEELD QKTFSICKER MRPVKAALKQ LDRPEKGLSE REQLEHTRQC 
      1460       1470       1480       1490       1500
LIKIGDHITE CLKEYTNPEQ IKQWRKNLWI FVSKFTEFDA RKLHKLYKHA 
      1510       1520       1530       1540       1550
IKKRQESQQN SDQNSNLNPH VIRNPDVERL KENTNHDDSS RDSYSSDRHL 
      1560       1570       1580       1590       1600
TQYHDHHKDR HQGDSYKKSD SRKRPYSSFS NGKDHRDWDH YKQDSRYYSD 
      1610       1620       1630       1640       1650
REKHRKLDDH RSRDHRSNLE GSLKDRSHSD HRSHSDHRLH SDHRSSSEYT 
      1660       1670       1680       1690       1700
HHKSSRDYRY HSDWQMDHRA SSSGPRSPLD QRSPYGSRSP FEHSVEHKST 
      1710
PEHTWSSRKT
Length:1,710
Mass (Da):196,688
Last modified:November 24, 2009 - v2
<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:iD888AAA46FDA31B1
GO
Isoform 2 (identifier: O14646-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1684-1684: Missing.

Show »
Length:1,709
Mass (Da):196,590
Checksum:i8B2C96C7597E55B4
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y8V4H0Y8V4_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD1
113Annotation 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>
A0A087WVF4A0A087WVF4_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD1
272Annotation 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>
H0Y8Z0H0Y8Z0_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD1
22Annotation 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 conflicti392E → G in AAB87381 (PubMed:9326634).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080265141R → G in PILBOS. 1 PublicationCorresponds to variant dbSNP:rs1064795875EnsemblClinVar.1
Natural variantiVAR_055652264P → T. Corresponds to variant dbSNP:rs10062803Ensembl.1
Natural variantiVAR_080266460R → K in PILBOS. 1 PublicationCorresponds to variant dbSNP:rs1554078856EnsemblClinVar.1
Natural variantiVAR_080267618R → Q in PILBOS; patient cells show a global increase of methylated histone binding. 1 PublicationCorresponds to variant dbSNP:rs1554078349EnsemblClinVar.1
Natural variantiVAR_0802681708R → Q in PILBOS. 1 PublicationCorresponds to variant dbSNP:rs1293161341EnsemblClinVar.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_0384321684Missing in isoform 2. 2 Publications1

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
AF006513 mRNA Translation: AAB87381.1
AC022121 Genomic DNA No translation available.
BC117134 mRNA Translation: AAI17135.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34204.1 [O14646-1]

NCBI Reference Sequences

More...RefSeqi		NP_001261.2, NM_001270.2 [O14646-1]
XP_005271924.1, XM_005271867.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000284049; ENSP00000284049; ENSG00000153922 [O14646-1]
ENST00000614616; ENSP00000483667; ENSG00000153922 [O14646-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1105

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1105

UCSC genome browser

More...UCSCi		uc003knf.3, human [O14646-1]

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
AF006513 mRNA Translation: AAB87381.1
AC022121 Genomic DNA No translation available.
BC117134 mRNA Translation: AAI17135.1
CCDSiCCDS34204.1 [O14646-1]
RefSeqiNP_001261.2, NM_001270.2 [O14646-1]
XP_005271924.1, XM_005271867.4

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
2B2TX-ray2.45A/B268-443[»]
C268-373[»]
2B2UX-ray2.95A/B268-443[»]
C268-373[»]
2B2VX-ray2.65A/B268-443[»]
C268-373[»]
2B2WX-ray2.40A/B268-443[»]
C268-373[»]
2B2YX-ray2.35A/B268-443[»]
C268-373[»]
2N39NMR-A1409-1511[»]
4B4CX-ray1.62A1119-1327[»]
4NW2X-ray1.90A/C268-443[»]
4O42X-ray1.87A268-443[»]
5AFWX-ray1.60A270-443[»]
SMRiO14646
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi107530, 83 interactors
DIPiDIP-38922N
IntActiO14646, 21 interactors
MINTiO14646
STRINGi9606.ENSP00000483667

Chemistry databases

ChEMBLiCHEMBL4523123

PTM databases

CarbonylDBiO14646
iPTMnetiO14646
MetOSiteiO14646
PhosphoSitePlusiO14646

Genetic variation databases

BioMutaiCHD1

Proteomic databases

EPDiO14646
jPOSTiO14646
MassIVEiO14646
MaxQBiO14646
PaxDbiO14646
PeptideAtlasiO14646
PRIDEiO14646
ProteomicsDBi48142 [O14646-1]
48143 [O14646-2]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		O14646, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

More...Antibodypediai		25129, 183 antibodies

The DNASU plasmid repository

More...DNASUi		1105

Genome annotation databases

EnsembliENST00000284049; ENSP00000284049; ENSG00000153922 [O14646-1]
ENST00000614616; ENSP00000483667; ENSG00000153922 [O14646-1]
GeneIDi1105
KEGGihsa:1105
UCSCiuc003knf.3, human [O14646-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1105
DisGeNETi1105

GeneCards: human genes, protein and diseases

More...GeneCardsi		CHD1
HGNCiHGNC:1915, CHD1
HPAiENSG00000153922, Tissue enhanced (lymphoid)
MalaCardsiCHD1
MIMi602118, gene
617682, phenotype
neXtProtiNX_O14646
OpenTargetsiENSG00000153922
PharmGKBiPA26451
VEuPathDBiHostDB:ENSG00000153922.10

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0384, Eukaryota
GeneTreeiENSGT00940000156579
HOGENOMiCLU_000315_8_1_1
InParanoidiO14646
OMAiPAWQETF
OrthoDBi57339at2759
PhylomeDBiO14646
TreeFamiTF313461

Enzyme and pathway databases

PathwayCommonsiO14646
ReactomeiR-HSA-9018519, Estrogen-dependent gene expression

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1105, 113 hits in 1004 CRISPR screens

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

More...ChiTaRSi		CHD1, human
EvolutionaryTraceiO14646

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CHD1

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

More...GenomeRNAii		1105
PharosiO14646, Tbio

Protein Ontology

More...PROi		PR:O14646
RNActiO14646, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000153922, Expressed in intestine and 234 other tissues
ExpressionAtlasiO14646, baseline and differential
GenevisibleiO14646, HS

Family and domain databases

Gene3Di3.40.50.10810, 1 hit
IDEALiIID00003
InterProiView protein in InterPro
IPR040793, CDH1_2_SANT_HL1
IPR016197, Chromo-like_dom_sf
IPR000953, Chromo/chromo_shadow_dom
IPR023780, Chromo_domain
IPR023779, Chromodomain_CS
IPR025260, DUF4208
IPR014001, Helicase_ATP-bd
IPR001650, Helicase_C
IPR027417, P-loop_NTPase
IPR038718, SNF2-like_sf
IPR000330, SNF2_N
PfamiView protein in Pfam
PF18375, CDH1_2_SANT_HL1, 1 hit
PF00385, Chromo, 2 hits
PF13907, DUF4208, 1 hit
PF00271, Helicase_C, 1 hit
PF00176, SNF2_N, 1 hit
SMARTiView protein in SMART
SM00298, CHROMO, 2 hits
SM00487, DEXDc, 1 hit
SM01176, DUF4208, 1 hit
SM00490, HELICc, 1 hit
SUPFAMiSSF52540, SSF52540, 2 hits
SSF54160, SSF54160, 2 hits
PROSITEiView protein in PROSITE
PS00598, CHROMO_1, 2 hits
PS50013, CHROMO_2, 2 hits
PS51192, HELICASE_ATP_BIND_1, 1 hit
PS51194, HELICASE_CTER, 1 hit

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 nameiCHD1_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: O14646
Secondary accession number(s): Q17RZ3
<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: July 15, 1998
Last sequence update: November 24, 2009
Last modified: June 2, 2021
This is version 199 of the entry and version 2 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. Human chromosome 5
    Human chromosome 5: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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