CHD1
Chromodomain-helicase-DNA-binding protein 1
Also known as: CHD1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O14646
- Gene
- CHD1
- Ensembl
- ENSG00000153922
- Chromosome
- 5
- Canonical length
- 1710 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli fibrillar center
OverviewNCBI 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 of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
1710 residues, UniProt reviewed canonical sequence.
>O14646|CHD1
1 MNGHSDEESV RNSSGESSQS DDDSGSASGS GSGSSSGSSS DGSSSQSGSS DSDSGSESGS
61 QSESESDTSR ENKVQAKPPK VDGAEFWKSS PSILAVQRSA ILKKQQQQQQ QQQHQASSNS
121 GSEEDSSSSE DSDDSSSEVK RKKHKDEDWQ MSGSGSPSQS GSDSESEEER EKSSCDETES
181 DYEPKNKVKS RKPQNRSKSK NGKKILGQKK RQIDSSEEDD DEEDYDNDKR SSRRQATVNV
241 SYKEDEEMKT DSDDLLEVCG EDVPQPEEEE FETIERFMDC RIGRKGATGA TTTIYAVEAD
301 GDPNAGFEKN KEPGEIQYLI KWKGWSHIHN TWETEETLKQ QNVRGMKKLD NYKKKDQETK
361 RWLKNASPED VEYYNCQQEL TDDLHKQYQI VERIIAHSNQ KSAAGYPDYY CKWQGLPYSE
421 CSWEDGALIS KKFQACIDEY FSRNQSKTTP FKDCKVLKQR PRFVALKKQP SYIGGHEGLE
481 LRDYQLNGLN WLAHSWCKGN SCILADEMGL GKTIQTISFL NYLFHEHQLY GPFLLVVPLS
541 TLTSWQREIQ TWASQMNAVV YLGDINSRNM IRTHEWTHHQ TKRLKFNILL TTYEILLKDK
601 AFLGGLNWAF IGVDEAHRLK NDDSLLYKTL IDFKSNHRLL ITGTPLQNSL KELWSLLHFI
661 MPEKFSSWED FEEEHGKGRE YGYASLHKEL EPFLLRRVKK DVEKSLPAKV EQILRMEMSA
721 LQKQYYKWIL TRNYKALSKG SKGSTSGFLN IMMELKKCCN HCYLIKPPDN NEFYNKQEAL
781 QHLIRSSGKL ILLDKLLIRL RERGNRVLIF SQMVRMLDIL AEYLKYRQFP FQRLDGSIKG
841 ELRKQALDHF NAEGSEDFCF LLSTRAGGLG INLASADTVV IFDSDWNPQN DLQAQARAHR
901 IGQKKQVNIY RLVTKGSVEE DILERAKKKM VLDHLVIQRM DTTGKTVLHT GSAPSSSTPF
961 NKEELSAILK FGAEELFKEP EGEEQEPQEM DIDEILKRAE THENEPGPLT VGDELLSQFK
1021 VANFSNMDED DIELEPERNS KNWEEIIPED QRRRLEEEER QKELEEIYML PRMRNCAKQI
1081 SFNGSEGRRS RSRRYSGSDS DSISEGKRPK KRGRPRTIPR ENIKGFSDAE IRRFIKSYKK
1141 FGGPLERLDA IARDAELVDK SETDLRRLGE LVHNGCIKAL KDSSSGTERT GGRLGKVKGP
1201 TFRISGVQVN AKLVISHEEE LIPLHKSIPS DPEERKQYTI PCHTKAAHFD IDWGKEDDSN
1261 LLIGIYEYGY GSWEMIKMDP DLSLTHKILP DDPDKKPQAK QLQTRADYLI KLLSRDLAKK
1321 EALSGAGSSK RRKARAKKNK AMKSIKVKEE IKSDSSPLPS EKSDEDDDKL SESKSDGRER
1381 SKKSSVSDAP VHITASGEPV PISEESEELD QKTFSICKER MRPVKAALKQ LDRPEKGLSE
1441 REQLEHTRQC LIKIGDHITE CLKEYTNPEQ IKQWRKNLWI FVSKFTEFDA RKLHKLYKHA
1501 IKKRQESQQN SDQNSNLNPH VIRNPDVERL KENTNHDDSS RDSYSSDRHL TQYHDHHKDR
1561 HQGDSYKKSD SRKRPYSSFS NGKDHRDWDH YKQDSRYYSD REKHRKLDDH RSRDHRSNLE
1621 GSLKDRSHSD HRSHSDHRLH SDHRSSSEYT HHKSSRDYRY HSDWQMDHRA SSSGPRSPLD
1681 QRSPYGSRSP FEHSVEHKST PEHTWSSRKTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CHD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.44
- Highest tissue expression
- 12 nTPM
Expression across tissuesHPA
Tissue
- testis: 12 nTPM
- thymus: 9.4 nTPM
- ovary: 8.9 nTPM
- adipose tissue: 7.1 nTPM
- cerebellum: 7 nTPM
- skeletal muscle: 7 nTPM
Single-cell type
- neutrophils: 1,764 nCPM
- monocytes: 612 nCPM
- epicardial cells: 503 nCPM
- neutrophil progenitors: 448 nCPM
- innate lymphoid cells: 416 nCPM
- nk-cells: 342 nCPM
Immune cell
- neutrophil: 8.4 nTPM
- eosinophil: 6.2 nTPM
- memory B-cell: 5.9 nTPM
- basophil: 5.3 nTPM
- naive B-cell: 5.3 nTPM
- classical monocyte: 4 nTPM
Brain region
- cerebellum: 7.6 nTPM
- medulla oblongata: 4 nTPM
- midbrain: 3.8 nTPM
- pons: 3.7 nTPM
- white matter: 3.3 nTPM
- hypothalamus: 3.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CHD1.
Disease | AllUniProt
Conditions CHD1 is implicated in, by any mechanism.
- Pilarowski-Bjornsson syndrome (PILBOS) MIM:617682
Disease | GeneticClinVar
13 pathogenic / likely-pathogenic of 483 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Pilarowski-Bjornsson syndrome
- See cases
- Developmental and epileptic encephalopathy
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.16
- gnomAD pLI
- 1
- gnomAD missense Z
- 4.21
- DepMap mean gene effect
- -0.27
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- ATP binding
- ATP hydrolysis activity
- ATP-dependent chromatin remodeler activity
- chromatin binding
- DNA binding
- histone binding
- histone H3K4me3 reader activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SNF2, N-terminal domain
- Chromo/chromo shadow domain
- Helicase, C-terminal domain-like
- Helicase superfamily 1/2, ATP-binding domain
- Chromo-like domain superfamily
- Chromo domain, conserved site
- Chromo domain
- Chromodomain-helicase-DNA-binding protein 1-like, C-terminal domain
- P-loop containing nucleoside triphosphate hydrolase
- SNF2-like, N-terminal domain superfamily
- CDH1/2, SANT-Helical linker 1
- SNF2/RAD5-like, C-terminal helicase domain
- ATP-dependent helicase CHD1-2/hrp3, HTH domain
- SNF2-related domain
- Helicase conserved C-terminal domain
- Chromo (CHRromatin Organisation MOdifier) domain
- Chromodomain-helicase-DNA-binding protein 1-like, C-terminal
- CDH1/2 SANT-Helical linker 1
- ATP-dependent helicase CHD1-2/hrp3 HTH domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CHD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CHD1 as an antibody target. Whether an autoantibody or antibody against CHD1 could matter depends on whether native CHD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CHD1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CHD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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