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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CHD1L
chromodomain helicase DNA binding protein 1 like
Chromosome 1 · 1q21.1
NCBI Gene: 9557Ensembl: ENSG00000131778.20HGNC: HGNC:1916UniProt: A0A0A0MRH8
110PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleotide bindingchromatin remodelingDNA damage responsenucleustype 2 diabetes mellitusneurodegenerative diseaseovarian dysfunctionShort stature
✦AI Summary

CHD1L (chr1 helicase DNA binding protein 1-like) is an ATP-dependent chr1 remodeling enzyme that plays critical roles in DNA damage repair and cancer progression 1. The protein functions as a chr1 remodeler by catalyzing nucleosome sliding away from DNA breaks in an ATP-dependent manner, facilitating DNA repair processes 1. CHD1L is recruited to DNA damage sites through interaction with poly-ADP-ribose, specifically recognizing histones that are poly-ADP-ribosylated following DNA damage 1. Beyond DNA repair, CHD1L acts as an oncogene that promotes tumor progression through multiple mechanisms including unleashed cell proliferation, G1/S cell cycle transition, and inhibition of apoptosis 1. The protein disrupts cell death programs by binding apoptotic proteins and activating the AKT pathway through upregulation of target genes such as SPOCK1 and TCTP 1. Meta-analysis of 2,720 patients across 15 studies demonstrates that high CHD1L expression correlates with poor overall survival, advanced TNM stage, larger tumor size, poor differentiation, and distant metastasis 2. CHD1L overexpression occurs across multiple solid tumor types and serves as an independent biomarker for tumor progression and prognosis 23. Recent studies have also identified pathogenic CHD1L variants associated with Müllerian duct anomalies, expanding its clinical relevance beyond oncology 4.

Sources cited
1
CHD1L is an ATP-dependent chromatin remodeler and oncogene that promotes cell proliferation, G1/S transition, and inhibits apoptosis
PMID: 24359616
2
Meta-analysis showing CHD1L high expression correlates with poor survival and tumor progression markers in 2,720 patients
PMID: 33725840
3
CHD1L serves as a prognostic biomarker across multiple cancer types
PMID: 37033447
4
CHD1L variants are associated with Müllerian duct anomalies through impaired DNA damage repair
PMID: 39342328
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.42Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
ovarian dysfunctionOpen Targets
0.34Weak
Short statureOpen Targets
0.33Weak
placenta praeviaOpen Targets
0.32Weak
diabetes mellitusOpen Targets
0.26Weak
bipolar disorderOpen Targets
0.18Weak
congenital anomaly of kidney and urinary tractOpen Targets
0.16Weak
congenital hydronephrosisOpen Targets
0.16Weak
Hereditary breast and ovarian cancer syndromeOpen Targets
0.12Weak
hereditary breast ovarian cancer syndromeOpen Targets
0.12Weak
Abnormality of the urinary systemOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Weak
breast cancerOpen Targets
0.10Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
ovarian carcinomaOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.08Suggestive
intrahepatic cholangiocarcinomaOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
H2BC12Protein interaction100%H2BC11Protein interaction99%H2AC4Protein interaction99%H4C6Protein interaction99%H2AC13Protein interaction99%H3C14Protein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
71%
Brain
45%
Lung
45%
Ovary
25%
Heart
18%
Gene Interaction Network
Click a node to explore
CHD1LH2BC12H2BC11H2AC4H4C6H2AC13H3C14
PROTEIN STRUCTURE
Preparing viewer…
PDB6ZHX · 2.50 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.15LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.96 [0.81–1.15]
RankingsWhere CHD1L stands among ~20K protein-coding genes
  • #4,311of 20,598
    Most Researched110 · top quartile
  • #12,009of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedCHD1L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The high expression of CHD1L and its clinical significance in human solid tumors: A meta-analysis.
PMID: 33725840
Medicine (Baltimore) · 2021
1.00
2
Identification and functional characteristics of CHD1L gene variants implicated in human Müllerian duct anomalies.
PMID: 39342328
Biol Res · 2024
0.90
3
CHD1L in cancer and beyond: structure, oncogenic functions, and therapeutic potential.
PMID: 40442742
J Exp Clin Cancer Res · 2025
0.80
4
CHD1L: a novel oncogene.
PMID: 24359616
Mol Cancer · 2013
0.70
5
A pan-cancer analysis reveals CHD1L as a prognostic and immunological biomarker in several human cancers.
PMID: 37033447
Front Mol Biosci · 2023
0.60