CHD1L Gene (Protein Coding)

Chromodomain Helicase DNA Binding Protein 1 Like

GC01P147190
GIFtS:
41
This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Overexpression of this gene has been linked to several types of cancers. [provided by RefSeq, Feb 2017] See more...

Aliases for CHD1L Gene

Aliases for CHD1L Gene

  • Chromodomain Helicase DNA Binding Protein 1 Like 2 3 5
  • ALC1 2 3 4
  • Chromodomain-Helicase-DNA-Binding Protein 1-Like 3 4
  • Amplified In Liver Cancer Protein 1 3 4
  • Amplified In Liver Cancer 1 2 3
  • EC 3.6.1'); 51
  • EC 3.6.4.12 4
  • EC 3.6.1 51
  • CHD1L 5
  • CHDL 3

External Ids for CHD1L Gene

Previous GeneCards Identifiers for CHD1L Gene

  • GC01U990222
  • GC01P143439
  • GC01P144058
  • GC01P144221
  • GC01P143939
  • GC01P145180
  • GC01P146717
  • GC01P120126
  • GC01P147174
  • GC01P147242

Summaries for CHD1L Gene

Entrez Gene Summary for CHD1L Gene

  • This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Overexpression of this gene has been linked to several types of cancers. [provided by RefSeq, Feb 2017]

GeneCards Summary for CHD1L Gene

CHD1L (Chromodomain Helicase DNA Binding Protein 1 Like) is a Protein Coding gene. Diseases associated with CHD1L include Cakut and Postcholecystectomy Syndrome. Among its related pathways are Nucleotide excision repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Gene Ontology (GO) annotations related to this gene include nucleic acid binding and hydrolase activity. An important paralog of this gene is CHD3.

UniProtKB/Swiss-Prot Summary for CHD1L Gene

  • DNA helicase which plays a role in chromatin-remodeling following DNA damage. Targeted to sites of DNA damage through interaction with poly(ADP-ribose) and functions to regulate chromatin during DNA repair. Able to catalyze nucleosome sliding in an ATP-dependent manner. Helicase activity is strongly stimulated upon poly(ADP-ribose)-binding.

Gene Wiki entry for CHD1L Gene

Additional gene information for CHD1L Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHD1L Gene

Genomics for CHD1L Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CHD1L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHD1L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHD1L

Top Transcription factor binding sites by QIAGEN in the CHD1L gene promoter:
  • AML1a
  • AREB6
  • Msx-1
  • MyoD
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • Nkx6-1
  • STAT5A
  • STAT5B

Genomic Locations for CHD1L Gene

Genomic Locations for CHD1L Gene
chr1:147,172,747-147,295,766
(GRCh38/hg38)
Size:
123,020 bases
Orientation:
Plus strand
chr1:146,714,291-146,767,443
(GRCh37/hg19)
Size:
53,153 bases
Orientation:
Plus strand

Genomic View for CHD1L Gene

Genes around CHD1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHD1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHD1L Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CHD1L Gene

Proteins for CHD1L Gene

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  • Protein details for CHD1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86WJ1-CHD1L_HUMAN
    Recommended name:
    Chromodomain-helicase-DNA-binding protein 1-like
    Protein Accession:
    Q86WJ1
    Secondary Accessions:
    • A5YM64
    • B4DDE1
    • B5MDZ7
    • Q53EZ3
    • Q5VXX7
    • Q6DD94
    • Q6PK83
    • Q86XH3
    • Q96HF7
    • Q96SP3
    • Q9BVJ1
    • Q9NVV8

    Protein attributes for CHD1L Gene

    Size:
    897 amino acids
    Molecular mass:
    101000 Da
    Quaternary structure:
    • Interacts with PARP1; interacts only when PARP1 is poly-ADP-ribosylated (PARylated). Interacts with CIAO1 (PubMed:23891004).
    SequenceCaution:
    • Sequence=BAB55248.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for CHD1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHD1L Gene

Protein Expression for CHD1L Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CHD1L Gene

Q86WJ1:
  • NLTAADTVIF
  • YYKAILM
  • DEMGLGKT
  • DEAHRLK
  • HPYLFDG
  • FLLSTRA
  • LVVDEAH
  • HRVLLFSQMT
  • RAHRIGQ
  • YRGYSYER
  • GDVTHPQA

Post-translational modifications for CHD1L Gene

  • Ubiquitination at Lys793
  • Modification sites at PhosphoSitePlus

Other Protein References for CHD1L Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CHD1L Gene

Gene Families for CHD1L Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for CHD1L Gene

InterPro:
Blocks:
  • ATP-dependent helicase, DEAH-box
  • SNF2 related domain
  • Protein of unknown function Appr-1
ProtoNet:

Suggested Antigen Peptide Sequences for CHD1L Gene

GenScript: Design optimal peptide antigens:
  • Amplified in liver cancer protein 1 (CHD1L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86WJ1

UniProtKB/Swiss-Prot:

CHD1L_HUMAN :
  • The macro domain mediates non-covalent poly(ADP-ribose)-binding and recruitment to DNA damage sites.
  • Belongs to the SNF2/RAD54 helicase family.
Domain:
  • The macro domain mediates non-covalent poly(ADP-ribose)-binding and recruitment to DNA damage sites.
Family:
  • Belongs to the SNF2/RAD54 helicase family.
genes like me logo Genes that share domains with CHD1L: view

Function for CHD1L Gene

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  2. CRISPR
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Molecular function for CHD1L Gene

UniProtKB/Swiss-Prot Function:
DNA helicase which plays a role in chromatin-remodeling following DNA damage. Targeted to sites of DNA damage through interaction with poly(ADP-ribose) and functions to regulate chromatin during DNA repair. Able to catalyze nucleosome sliding in an ATP-dependent manner. Helicase activity is strongly stimulated upon poly(ADP-ribose)-binding.
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;.

Enzyme Numbers (IUBMB) for CHD1L Gene

Phenotypes From GWAS Catalog for CHD1L Gene

Gene Ontology (GO) - Molecular Function for CHD1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA,IDA 19661379
GO:0003678 DNA helicase activity IEA,TAS 19661379
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 19661379
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with CHD1L: view
genes like me logo Genes that share phenotypes with CHD1L: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CHD1L

CRISPR Products

miRNA for CHD1L Gene

miRTarBase miRNAs that target CHD1L

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHD1L

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CHD1L Gene

Localization for CHD1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHD1L Gene

Nucleus. Note=Localizes at sites of DNA damage. Probably recruited to DNA damage sites by PARylated PARP1.

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 CHD1L gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 4
extracellular 2
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CHD1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 19661379
GO:0005654 nucleoplasm IDA,TAS --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with CHD1L: view

Pathways & Interactions for CHD1L Gene

genes like me logo Genes that share pathways with CHD1L: view

Pathways by source for CHD1L Gene

1 Cell Signaling Technology pathway for CHD1L Gene

Gene Ontology (GO) - Biological Process for CHD1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000717 nucleotide-excision repair, DNA duplex unwinding TAS --
GO:0006281 DNA repair IEA,TAS 19661379
GO:0006293 nucleotide-excision repair, preincision complex stabilization TAS --
GO:0006294 nucleotide-excision repair, preincision complex assembly TAS --
GO:0006295 nucleotide-excision repair, DNA incision, 3'-to lesion TAS --
genes like me logo Genes that share ontologies with CHD1L: view

No data available for SIGNOR curated interactions for CHD1L Gene

Drugs & Compounds for CHD1L Gene

Products:

  1. Drug

(3) Drugs for CHD1L Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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 CHD1L 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 CHD1L: view

Transcripts for CHD1L Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for CHD1L Gene

21 REFSEQ mRNAs :
29 NCBI additional mRNA sequence :
34 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 CHD1L

Alternative Splicing Database (ASD) splice patterns (SP) for CHD1L Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14a · 14b ·
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - - - - - - - - - -
SP5: - - - - -
SP6: - - - - - -
SP7: - - - - - - - -
SP8: -
SP9: - - - - - - - - - - - - - - - -
SP10: - - - - - - - - - -
SP11: -
SP12:
SP13:
SP14: - -
SP15:

ExUns: 14c ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b ^ 24
SP1: -
SP2: -
SP3: -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for CHD1L Gene

GeneLoc Exon Structure for
CHD1L

Expression for CHD1L Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHD1L Gene

mRNA expression in normal human tissues for CHD1L Gene
mRNA expression by GTEx for CHD1L GenemRNA expression by BioGPS for CHD1L Gene

Protein differential expression in normal tissues from HIPED for CHD1L Gene

This gene is overexpressed in Lymph node (22.5) and Testis (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CHD1L Gene



Protein tissue co-expression partners for CHD1L Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHD1L

SOURCE GeneReport for Unigene cluster for CHD1L Gene:

Hs.191164

mRNA Expression by UniProt/SwissProt for CHD1L Gene:

Q86WJ1-CHD1L_HUMAN
Tissue specificity: Frequently overexpressed in hepatomacellular carcinomas.

Evidence on tissue expression from TISSUES for CHD1L Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Skin(4.5)
  • Eye(4.1)
  • Blood(2.7)
  • Kidney(2.5)
  • Heart(2.3)
  • Pancreas(2.3)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with CHD1L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CHD1L Gene

Orthologs for CHD1L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CHD1L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CHD1L 30 31
  • 99.14 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CHD1L 30 31
  • 90.34 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CHD1L 30 31
  • 88.45 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Chd1l 30
  • 86.07 (n)
Mouse
(Mus musculus)
 Mammalia Chd1l 30 17 31
  • 85.34 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CHD1L 31
  • 79 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CHD1L 31
  • 68 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CHD1L 30 31
  • 72.61 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CHD1L 31
  • 67 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii chd1l 30 31
  • 64.05 (n)
 OneToOne
zgc56084 30
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes ISW2 31
  • 23 (a)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT2G44980 30
  • 51.06 (n)
Rice
(Oryza sativa)
 Liliopsida Os03g0101700 30
  • 48.15 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 18 (a)
 OneToOne
Species where no ortholog for CHD1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • 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)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CHD1L Gene

ENSEMBL:
Gene Tree for CHD1L (if available)
TreeFam:
Gene Tree for CHD1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHD1L: view image

Paralogs for CHD1L Gene

Paralogs for CHD1L Gene

(10) SIMAP similar genes for CHD1L Gene using alignment to 2 proteins:

  • CHD1L_HUMAN
  • B5MDZ7_HUMAN
genes like me logo Genes that share paralogs with CHD1L: view

Variants for CHD1L Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHD1L Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
733960 Benign: not provided 147,264,451(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
737457 Likely Benign: not provided 147,242,704(+) A/T INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
738609 Likely Benign: not provided 147,280,084(+) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
758686 Likely Benign: not provided 147,201,145(+) C/T INTRON_VARIANT
769528 Benign: not provided 147,285,415(+) A/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for CHD1L Gene

Structural Variations from Database of Genomic Variants (DGV) for CHD1L Gene

Variant ID Type Subtype PubMed ID
dgv327n100 CNV gain 25217958
dgv66e199 CNV deletion 23128226
esv2761299 CNV gain+loss 21179565
esv2761654 CNV loss 21179565
esv3894112 CNV loss 25118596
nsv1003688 CNV gain 25217958
nsv1005055 CNV loss 25217958
nsv1132304 CNV duplication 24896259
nsv437047 CNV loss 16327808
nsv509457 CNV insertion 20534489
nsv510962 OTHER complex 20534489
nsv547676 CNV gain 21841781

Variation tolerance for CHD1L Gene

Residual Variation Intolerance Score: 62.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.20; 92.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHD1L Gene

Human Gene Mutation Database (HGMD)
CHD1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHD1L

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHD1L Gene

Disorders for CHD1L Gene

MalaCards: The human disease database

(4) MalaCards diseases for CHD1L Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cakut
  • renal hypodysplasia, nonsyndromic, 1
postcholecystectomy syndrome
anteroseptal myocardial infarction
frontometaphyseal dysplasia 1
  • fmd
- elite association - COSMIC cancer census association via MalaCards
Search CHD1L in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CHD1L

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 CHD1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHD1L Gene

Publications for CHD1L Gene

  1. Poly(ADP-ribose)-dependent regulation of DNA repair by the chromatin remodeling enzyme ALC1. (PMID: 19661379) Ahel D … Boulton SJ (Science (New York, N.Y.) 2009) 3 4 23
  2. Human CIA2A-FAM96A and CIA2B-FAM96B integrate iron homeostasis and maturation of different subsets of cytosolic-nuclear iron-sulfur proteins. (PMID: 23891004) Stehling O … Lill R (Cell metabolism 2013) 3 4
  3. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu CY … Christiani DC (Carcinogenesis 2010) 3 41
  4. Isolation and characterization of a novel oncogene, amplified in liver cancer 1, within a commonly amplified region at 1q21 in hepatocellular carcinoma. (PMID: 18023026) Ma NF … Guan XY (Hepatology (Baltimore, Md.) 2008) 3 4
  5. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PMID: 18464913) Melzer D … Ferrucci L (PLoS genetics 2008) 3 41

ExternalLinks

View latest publications for CHD1L gene in Mastermind

Products for CHD1L Gene

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Sources for CHD1L Gene