CHD1L (chromodomain helicase DNA binding protein 1 like)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9557
Gene name Gene Name - the full gene name approved by the HGNC.
Chromodomain helicase DNA binding protein 1 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CHD1L
Synonyms (NCBI Gene) Gene synonyms aliases
ALC1, CHDL
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.1
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs782144677 A>- Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(24)
miRTarBase ID miRNA Experiments Reference
MIRT044802 hsa-miR-320a CLASH 23622248
MIRT1963410 hsa-miR-326 CLIP-seq
MIRT1963411 hsa-miR-330-5p CLIP-seq
MIRT1963412 hsa-miR-555 CLIP-seq
MIRT2199871 hsa-miR-5095 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(32)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IBA
GO:0000166 Function Nucleotide binding IDA 19661379
GO:0000166 Function Nucleotide binding IEA
GO:0003678 Function DNA helicase activity IEA
GO:0003678 Function DNA helicase activity TAS 19661379
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
613039 1916 ENSG00000131778
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q86WJ1
Protein name Chromodomain-helicase-DNA-binding protein 1-like (EC 3.6.4.-) (Amplified in liver cancer protein 1)
Protein function ATP-dependent chromatin remodeler that mediates chromatin-remodeling following DNA damage (PubMed:19661379, PubMed:29220652, PubMed:29220653, PubMed:33357431, PubMed:34210977, PubMed:34486521, PubMed:34874266). Recruited to DNA damage sites thro
PDB 6ZHX , 6ZHY , 7ENN , 7EPU , 7OTQ , 8B0A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00176 SNF2_N 57 → 328 SNF2 family N-terminal domain Family
PF00271 Helicase_C 347 → 459 Helicase conserved C-terminal domain Family
Tissue specificity TISSUE SPECIFICITY: Frequently overexpressed in hepatomacellular carcinomas. {ECO:0000269|PubMed:18023026}.
Sequence 
MERAGATSRGGQAPGFLLRLHTEGRAEAARVQEQDLRQWGLTGIHLRSYQLEGVNWLAQR
FHCQNGCILGDEMGLGKTCQTIALFIYLAGRLNDEGPFLILCPLSVLSNWKEEMQRFAPG
LSCVTYAGDKEERACLQQDLKQESRFHVLLTTYEICLKDASFLKSFPWSVLVVDEAHRLK
NQSSLLHKTLSEFSVVFSLLLTGTPIQNSLQELYSLLSFVEPDLFSKEEVGDFIQRYQDI
EKESESASELHKLLQPFLLRRVKAEVATELPKKTEVVIYHGMSALQKKYYKAILMKDLDA
FENETAKKVKLQNILSQLRKCVDHPYLFDGVEPEPFEVGDHLTEASGKLHLLDKLLAFLY
SGGHRVLLFSQMTQMLDILQDYMDYRGYSYERVDGSVRGEERHLAIKNFGQQPIFVFLLS
TRAGGVGMNLTAADTVIFVDSDFNPQNDLQAAARAHRIGQNKSVKVIRLIGRDTVEEIVY
RKAASKLQLTNMIIEGGHFTLGAQKPAADADLQLSEILKFGLDKLLASEGSTMDEIDLES
ILGETKDGQWVSDALPAAEGGSRDQEEGKNHMYLFEGKDYSKEPSKEDRKSFEQLVNLQK
TLLEKASQEGRSLRNKGSVLIPGLVEGSTKRKRVLSPEELEDRQKKRQEAAAKRRRLIEE
KKRQKEEAEHKKKMAWWESNNYQSFCLPSEESEPEDLENGEESSAELDYQDPDATSLKYV
SGDVTHPQAGAEDALIVHCVDDSGHWGRGGLFTALEKRSAEPRKIYELAGKMKDLSLGGV
LLFPVDDKESRNKGQDLLALIVAQHRDRSNVLSGIKMAALEEGLKKIFLAAKKKKASVHL
PRIGHATKGFNWYGTERLIRKHLAARGIPTYIYYFPRSKSAVLHSQSSSSSSRQLVP
Sequence length 897
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Formation of Incision Complex in GG-NER
Dual Incision in GG-NER
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Congenital anomalies of kidney and urinary tract Congenital anomaly of kidney and urinary tract N/A N/A ClinVar
Diabetes Type 2 diabetes (adjusted for BMI), Type 2 diabetes N/A N/A GWAS
Show/Hide Text Mining Associations (30)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 26360781
Adenocarcinoma of Lung Associate 26360781
Attention Deficit Disorder with Hyperactivity Associate 28332277
Breast Diseases Associate 33275888
Breast Neoplasms Associate 25153161, 33462394, 39201277
Cakut Associate 24429398
Carcinogenesis Associate 23807680
Carcinoma Hepatocellular Associate 19666485, 23020525, 25153161, 26360781, 32922205, 37923899
Carcinoma Non Small Cell Lung Associate 26360781
Carcinoma Ovarian Epithelial Associate 32922205