Gene Gene information from NCBI Gene database.
Entrez ID 1105
Gene name Chromodomain helicase DNA binding protein 1
Gene symbol CHD1
Synonyms (NCBI Gene)
CHD-1PILBOS
Chromosome 5
Chromosome location 5q15-q21.1
Summary The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs1064795875 T>C,G Uncertain-significance, pathogenic Genic upstream transcript variant, missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs1293161341 C>T Pathogenic Missense variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs1554078349 C>T Pathogenic, not-provided Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant
rs1554078856 C>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
431
miRTarBase ID miRNA Experiments Reference
MIRT005127 hsa-miR-30a-5p pSILAC 18668040
MIRT023406 hsa-miR-30b-5p Sequencing 20371350
MIRT027799 hsa-miR-98-5p Microarray 19088304
MIRT005127 hsa-miR-30a-5p Proteomics;Other 18668040
MIRT032461 hsa-let-7b-5p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000228 Component Nuclear chromosome IDA 9326634
GO:0000785 Component Chromatin IBA
GO:0003677 Function DNA binding IBA
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602118 1915 ENSG00000153922
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14646
Protein name Chromodomain-helicase-DNA-binding protein 1 (CHD-1) (EC 3.6.4.-) (ATP-dependent helicase CHD1)
Protein function 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
PDB 2B2T , 2B2U , 2B2V , 2B2W , 2B2Y , 2N39 , 4B4C , 4NW2 , 4O42 , 5AFW , 8UMG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00385 Chromo 273 355 Chromo (CHRromatin Organisation MOdifier) domain Domain
PF00385 Chromo 389 443 Chromo (CHRromatin Organisation MOdifier) domain Domain
PF00176 SNF2_N 475 765 SNF2 family N-terminal domain Family
PF00271 Helicase_C 788 902 Helicase conserved C-terminal domain Family
PF18375 CDH1_2_SANT_HL1 1124 1210 CDH1/2 SANT-Helical linker 1 Domain
PF13907 DUF4208 1404 1499 Domain of unknown function (DUF4208) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in many tissues including in the brain, where the highest level of expression is found in the cerebellum and basal ganglia. {ECO:0000269|PubMed:28866611}.
Sequence
MNGHSDEESVRNSSGESSQSDDDSGSASGSGSGSSSGSSSDGSSSQSGSSDSDSGSESGS
QSESESDTSRENKVQAKPPKVDGAEFWKSSPSILAVQRSAILKKQQQQQQQQQHQASSNS
GSEEDSSSSEDSDDSSSEVKRKKHKDEDWQMSGSGSPSQSGSDSESEEEREKSSCDETES
DYEPKNKVKSRKPQNRSKSKNGKKILGQKKRQIDSSEEDDDEEDYDNDKRSSRRQATVNV
SYKEDEEMKTDSDDLLEVCGEDVPQPEEEEFETIERFMDCRIGRKGATGATTTIYAVEAD
GDPNAGFEKNKEPGEIQYLIKWKGWSHIHNTWETEETLKQQNVRGMKKLDNYKKK
DQETK
RWLKNASPEDVEYYNCQQELTDDLHKQYQIVERIIAHSNQKSAAGYPDYYCKWQGLPYSE
CSWEDGALISKKFQACIDEYFSR
NQSKTTPFKDCKVLKQRPRFVALKKQPSYIGGHEGLE
LRDYQLNGLNWLAHSWCKGNSCILADEMGLGKTIQTISFLNYLFHEHQLYGPFLLVVPLS
TLTSWQREIQTWASQMNAVVYLGDINSRNMIRTHEWTHHQTKRLKFNILLTTYEILLKDK
AFLGGLNWAFIGVDEAHRLKNDDSLLYKTLIDFKSNHRLLITGTPLQNSLKELWSLLHFI
MPEKFSSWEDFEEEHGKGREYGYASLHKELEPFLLRRVKKDVEKSLPAKVEQILRMEMSA
LQKQYYKWILTRNYKALSKGSKGSTSGFLNIMMELKKCCNHCYLI
KPPDNNEFYNKQEAL
QHLIRSSGKLILLDKLLIRLRERGNRVLIFSQMVRMLDILAEYLKYRQFPFQRLDGSIKG
ELRKQALDHFNAEGSEDFCFLLSTRAGGLGINLASADTVVIFDSDWNPQNDLQAQARAHR
IG
QKKQVNIYRLVTKGSVEEDILERAKKKMVLDHLVIQRMDTTGKTVLHTGSAPSSSTPF
NKEELSAILKFGAEELFKEPEGEEQEPQEMDIDEILKRAETHENEPGPLTVGDELLSQFK
VANFSNMDEDDIELEPERNSKNWEEIIPEDQRRRLEEEERQKELEEIYMLPRMRNCAKQI
SFNGSEGRRSRSRRYSGSDSDSISEGKRPKKRGRPRTIPRENIKGFSDAEIRRFIKSYKK
FGGPLERLDAIARDAELVDKSETDLRRLGELVHNGCIKALKDSSSGTERTGGRLGKVKGP
TFRISGVQVN
AKLVISHEEELIPLHKSIPSDPEERKQYTIPCHTKAAHFDIDWGKEDDSN
LLIGIYEYGYGSWEMIKMDPDLSLTHKILPDDPDKKPQAKQLQTRADYLIKLLSRDLAKK
EALSGAGSSKRRKARAKKNKAMKSIKVKEEIKSDSSPLPSEKSDEDDDKLSESKSDGRER
SKKSSVSDAPVHITASGEPVPISEESEELDQKTFSICKERMRPVKAALKQLDRPEKGLSE
REQLEHTRQCLIKIGDHITECLKEYTNPEQIKQWRKNLWIFVSKFTEFDARKLHKLYKH
A
IKKRQESQQNSDQNSNLNPHVIRNPDVERLKENTNHDDSSRDSYSSDRHLTQYHDHHKDR
HQGDSYKKSDSRKRPYSSFSNGKDHRDWDHYKQDSRYYSDREKHRKLDDHRSRDHRSNLE
GSLKDRSHSDHRSHSDHRLHSDHRSSSEYTHHKSSRDYRYHSDWQMDHRASSSGPRSPLD
QRSPYGSRSPFEHSVEHKSTPEHTWSSRKT
Sequence length 1710
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Estrogen-dependent gene expression
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Pilarowski-Bjornsson syndrome Likely pathogenic; Pathogenic rs2479646862, rs2479520814, rs2479716393, rs1344698815, rs2479719966, rs1554078349, rs1554078856 RCV002291456
RCV003123418
RCV003149117
RCV003333354
RCV003990657
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHD1-related disorder Likely benign; Uncertain significance; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 30510241
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma GWASCAT_DG 30510241
★☆☆☆☆
Found in Text Mining only
Age-Related Memory Disorders Age-Related Memory Disorders CTD_human_DG 30728766
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31545826 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer disease, familial, type 3 Alzheimer disease BEFREE 31545826
★☆☆☆☆
Found in Text Mining only
Apraxia of Phonation Apraxia HPO_DG
★☆☆☆☆
Found in Text Mining only
Apraxias Apraxia Pubtator 28866611 Associate
★☆☆☆☆
Found in Text Mining only
Autistic behavior Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 28866611 Associate
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia Pubtator 40215689 Associate
★☆☆☆☆
Found in Text Mining only