Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1105
Gene name Gene Name - the full gene name approved by the HGNC.
Chromodomain helicase DNA binding protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CHD1
Synonyms (NCBI Gene) Gene synonyms aliases
CHD-1, PILBOS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PILBOS
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q15-q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003678 Function DNA helicase activity IEA
GO:0005515 Function Protein binding IPI 22419161, 26751641
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IDA 22046413
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602118 1915 ENSG00000153922
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Apraxia Apraxia of Phonation rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Autism Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Colonic neoplasms Malignant tumor of colon rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 30510241
Colorectal cancer Colorectal Carcinoma, Adenocarcinoma of large intestine rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
30510241
Unknown
Disease term Disease name Evidence References Source
Neurodevelopmental Disorders complex neurodevelopmental disorder GenCC
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 30656528
Alzheimer Disease Associate 31545826
Apraxias Associate 28866611
Autistic Disorder Associate 28866611
Azoospermia Associate 40215689
Breast Neoplasms Associate 22048254
Carcinoma Hepatocellular Associate 30043858
Developmental Disabilities Associate 28866611
Diabetes Mellitus Associate 31545826
Drug Related Side Effects and Adverse Reactions Associate 29018037