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] See more...

Aliases for CHD1 Gene

Aliases for CHD1 Gene

  • Chromodomain Helicase DNA Binding Protein 1 2 3 5
  • Chromodomain-Helicase-DNA-Binding Protein 1 3 4
  • ATP-Dependent Helicase CHD1 3 4
  • CHD-1 3 4
  • EC 3.6.4.12 4
  • EC 3.6.1 51
  • PILBOS 3
  • CHD1 5

External Ids for CHD1 Gene

Previous GeneCards Identifiers for CHD1 Gene

  • GC05M097537
  • GC05M098601
  • GC05M098222
  • GC05M098267
  • GC05M098219
  • GC05M093378
  • GC05M098190

Summaries for CHD1 Gene

Entrez Gene Summary for CHD1 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]

GeneCards Summary for CHD1 Gene

CHD1 (Chromodomain Helicase DNA Binding Protein 1) is a Protein Coding gene. Diseases associated with CHD1 include Pilarowski-Bjornsson Syndrome and Schizophrenia 8. Among its related pathways are Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include methylated histone binding and ATP-dependent DNA helicase activity. An important paralog of this gene is CHD2.

UniProtKB/Swiss-Prot Summary for CHD1 Gene

  • 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).

Gene Wiki entry for CHD1 Gene

Additional gene information for CHD1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHD1 Gene

Genomics for CHD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CHD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J098925 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 612.9 -0.9 -903 10.1 ARHGAP35 CEBPG HNRNPL CREB1 GATAD2A PRDM10 REST ZNF629 TFE3 ZNF512 CHD1 LINC02062 LOC100289230 lnc-RIOK2-11 RGMB-AS1 ENSG00000200351 LOC100652833
GH05J098905 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 35.2 +18.3 18271 13.8 CREB1 CTCF ATF7 ZNF629 REST ZNF24 RAD21 ZNF501 TRIM22 ZNF600 CHD1 RNU6-402P RGMB-AS1 lnc-RIOK2-10 LINC02062 lnc-RIOK2-11 RGMB
GH05J098767 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.9 +156.7 156676 11.4 SP1 CREB1 GATAD2A CTCF PRDM10 ZNF629 TFE3 NFKBIZ KDM1A ZNF692 RGMB-AS1 RGMB CHD1
GH05J099019 Enhancer 1.1 Ensembl ENCODE 11.4 -91.1 -91110 3.4 CREB1 ATF7 PRDM10 ZNF629 ZNF692 JUND PRDM1 ZIC2 ZSCAN4 PKNOX1 RGMB-AS1 CHD1 LINC02062 RGMB piR-53338-112 LOC107986436 LOC100652833
GH05J099005 Enhancer 0.9 Ensembl ENCODE 11.4 -75.3 -75328 1.8 BACH1 TRIM22 PKNOX1 ARID3A DPF2 RUNX3 BCLAF1 CBFB TCF12 BCL11A CHD1 LINC02062 RGMB-AS1 piR-45454 piR-50918 LOC100652833
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHD1

Top Transcription factor binding sites by QIAGEN in the CHD1 gene promoter:
  • AML1a
  • HTF
  • POU3F1
  • PPAR-gamma1
  • PPAR-gamma2
  • TBP
  • YY1

Genomic Locations for CHD1 Gene

Genomic Locations for CHD1 Gene
chr5:98,853,985-98,929,772
(GRCh38/hg38)
Size:
75,788 bases
Orientation:
Minus strand
chr5:98,190,908-98,262,240
(GRCh37/hg19)
Size:
71,333 bases
Orientation:
Minus strand

Genomic View for CHD1 Gene

Genes around CHD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHD1 Gene

Proteins for CHD1 Gene

  • Protein details for CHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14646-CHD1_HUMAN
    Recommended name:
    Chromodomain-helicase-DNA-binding protein 1
    Protein Accession:
    O14646
    Secondary Accessions:
    • Q17RZ3

    Protein attributes for CHD1 Gene

    Size:
    1710 amino acids
    Molecular mass:
    196688 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for CHD1 Gene

    Alternative splice isoforms for CHD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHD1 Gene

Selected DME Specific Peptides for CHD1 Gene

O14646:
  • VLIFSQMVR
  • DSDWNPQ
  • IFDSDWNP
  • FLLSTRA
  • DEMGLGKT
  • ERMRPVK
  • AGGLGINL
  • DEAHRLK
  • TGTPLQN
  • RVLIFSQM
  • RAHRIGQ
  • LLHFIMP
  • LSTRAGGLG
  • MGLGKTIQ

Post-translational modifications for CHD1 Gene

  • Ubiquitination at Lys364
  • Modification sites at PhosphoSitePlus

Domains & Families for CHD1 Gene

Gene Families for CHD1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for CHD1 Gene

InterPro:
Blocks:
  • Chromo domain
  • Myb DNA-binding domain
  • ATP-dependent helicase, DEAH-box
  • SNF2 related domain
ProtoNet:

Suggested Antigen Peptide Sequences for CHD1 Gene

GenScript: Design optimal peptide antigens:
  • ATP-dependent helicase CHD1 (CHD1_HUMAN)
  • CHD1 protein (Q7Z4M7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14646

UniProtKB/Swiss-Prot:

CHD1_HUMAN :
  • The 2 chromodomains are involved in the binding to the histone H3 methyllysine at position 4 (H3K4me3).
  • Belongs to the SNF2/RAD54 helicase family.
Domain:
  • The 2 chromodomains are involved in the binding to the histone H3 methyllysine at position 4 (H3K4me3).
Family:
  • Belongs to the SNF2/RAD54 helicase family.
genes like me logo Genes that share domains with CHD1: view

Function for CHD1 Gene

Molecular function for CHD1 Gene

UniProtKB/Swiss-Prot 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 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12;.
GENATLAS Biochemistry:
DNA binding protein with two chromatin organization (chromo) domains and a helicase ATPase domain,1,binding A.T tracts, released into cytoplasm during mitosis,component of the chromatin remodeling complex

Enzyme Numbers (IUBMB) for CHD1 Gene

Phenotypes From GWAS Catalog for CHD1 Gene

Gene Ontology (GO) - Molecular Function for CHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IEA --
GO:0003678 DNA helicase activity TAS,IEA --
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 22419161
genes like me logo Genes that share ontologies with CHD1: view
genes like me logo Genes that share phenotypes with CHD1: view

Human Phenotype Ontology for CHD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHD1 Gene

MGI Knock Outs for CHD1:
  • Chd1 Chd1<tm1b(KOMP)Rsan>
  • Chd1 Chd1<tm1b(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for CHD1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHD1

No data available for Transcription Factor Targets and HOMER Transcription for CHD1 Gene

Localization for CHD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHD1 Gene

Nucleus. Cytoplasm. Note=Is released into the cytoplasm when cells enter mitosis and is reincorporated into chromatin during telophase-cytokinesis. {ECO:0000250 UniProtKB:P40201}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHD1 gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 22046413
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 22046413
genes like me logo Genes that share ontologies with CHD1: view

Pathways & Interactions for CHD1 Gene

PathCards logo

SuperPathways for CHD1 Gene

genes like me logo Genes that share pathways with CHD1: view

Pathways by source for CHD1 Gene

1 Cell Signaling Technology pathway for CHD1 Gene

Gene Ontology (GO) - Biological Process for CHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0006338 chromatin remodeling IEA --
GO:0006357 regulation of transcription by RNA polymerase II TAS 9326634
GO:0016569 covalent chromatin modification IMP 28866611
GO:0032508 DNA duplex unwinding IEA --
genes like me logo Genes that share ontologies with CHD1: view

No data available for SIGNOR curated interactions for CHD1 Gene

Drugs & Compounds for CHD1 Gene

(5) Drugs for CHD1 Gene - From: DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Epirubicin Approved Pharma inhibitor 483
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for CHD1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with CHD1: view

Transcripts for CHD1 Gene

mRNA/cDNA for CHD1 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHD1

Alternative Splicing Database (ASD) splice patterns (SP) for CHD1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32 ^ 33a · 33b ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38
SP1:
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13: -
SP14:

Relevant External Links for CHD1 Gene

GeneLoc Exon Structure for
CHD1

Expression for CHD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CHD1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.3), Breast (12.3), Lung (9.5), and Adrenal (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CHD1 Gene



Protein tissue co-expression partners for CHD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHD1

SOURCE GeneReport for Unigene cluster for CHD1 Gene:

Hs.643465

mRNA Expression by UniProt/SwissProt for CHD1 Gene:

O14646-CHD1_HUMAN
Tissue specificity: Expressed in many tissues including in the brain, where the highest level of expression is found in the cerebellum and basal ganglia.

Evidence on tissue expression from TISSUES for CHD1 Gene

  • Lung(5)
  • Liver(4.5)
  • Nervous system(4.5)
  • Skin(2.8)
  • Blood(2.7)
  • Bone marrow(2.6)
  • Intestine(2.6)
  • Kidney(2.5)
  • Heart(2.5)
  • Spleen(2.5)
  • Muscle(2.5)
  • Lymph node(2.3)
genes like me logo Genes that share expression patterns with CHD1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CHD1 Gene

Orthologs for CHD1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CHD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CHD1 30 31
  • 99.65 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CHD1 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CHD1 30 31
  • 95.02 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CHD1 31
  • 94 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CHD1 30 31
  • 93.54 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Chd1 30
  • 88.37 (n)
Mouse
(Mus musculus)
Mammalia Chd1 30 17 31
  • 88.02 (n)
OneToOne
Chicken
(Gallus gallus)
Aves CHDZ 31 31
  • 96 (a)
OneToMany
CHD1 30
  • 81.93 (n)
Lizard
(Anolis carolinensis)
Reptilia CHD1 31
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.17448 30
Zebrafish
(Danio rerio)
Actinopterygii CHD1 31
  • 75 (a)
OneToOne
zgc:173506 30
  • 70.86 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Chd1 31 32
  • 44 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea H06O01.2 32
  • 48 (a)
chd-1 31
  • 46 (a)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C17578g 30
  • 50.56 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR123C 30
  • 50.33 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHD1 30 31
  • 49.92 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 54 (a)
OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hrp1 30
  • 52.66 (n)
Species where no ortholog for CHD1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CHD1 Gene

ENSEMBL:
Gene Tree for CHD1 (if available)
TreeFam:
Gene Tree for CHD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHD1: view image

Paralogs for CHD1 Gene

(3) SIMAP similar genes for CHD1 Gene using alignment to 5 proteins:

  • CHD1_HUMAN
  • H0Y8V4_HUMAN
  • H0Y8Z0_HUMAN
  • L8E9V9_HUMAN
  • Q7Z4M7_HUMAN
genes like me logo Genes that share paralogs with CHD1: view

Variants for CHD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHD1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
635459 Uncertain Significance: PILAROWSKI-BJORNSSON SYNDROME 98,856,619(-) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
635463 Uncertain Significance: PILAROWSKI-BJORNSSON SYNDROME 98,901,303(-) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
716116 Benign: not provided 98,897,315(-) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
758926 Likely Benign: not provided 98,859,984(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
771152 Likely Benign: not provided 98,869,828(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for CHD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CHD1 Gene

Variant ID Type Subtype PubMed ID
nsv1161270 CNV duplication 26073780
nsv507277 OTHER sequence alteration 20534489

Variation tolerance for CHD1 Gene

Residual Variation Intolerance Score: 1.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.72; 83.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHD1 Gene

Human Gene Mutation Database (HGMD)
CHD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHD1 Gene

Disorders for CHD1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for CHD1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CHD1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CHD1_HUMAN
  • Pilarowski-Bjornsson syndrome (PILBOS) [MIM:617682]: An autosomal dominant disorder characterized by developmental delay, speech apraxia, intellectual disability, autism, and facial dysmorphic features. Some patients may have seizures. {ECO:0000269 PubMed:28866611}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CHD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CHD1: view

No data available for Genatlas for CHD1 Gene

Publications for CHD1 Gene

  1. Human but not yeast CHD1 binds directly and selectively to histone H3 methylated at lysine 4 via its tandem chromodomains. (PMID: 16263726) Sims RJ … Reinberg D (The Journal of biological chemistry 2005) 3 4 23
  2. Characterization of the CHD family of proteins. (PMID: 9326634) Woodage T … Collins FS (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4
  3. Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. (PMID: 28866611) Pilarowski GO … Bjornsson HT (Journal of medical genetics 2018) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. Interleukin 10 polymorphisms differentially influence the risk of gastric cancer in East Asians and Caucasians. (PMID: 20363151) Won HH … Lee KA (Cytokine 2010) 3 41

Products for CHD1 Gene

Sources for CHD1 Gene