CHD1: Chromodomain Helicase DNA Binding Protein 1
A key chromatin remodeler in prostate cancer and developmental disorders
Gene Information Card
| Symbol | CHD1 |
|---|---|
| Full Name | Chromodomain Helicase DNA Binding Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q15-q21 |
| NCBI Gene ID | 1105 ncbi.nlm.nih.gov/gene/1105 |
| Ensembl ID | ENSG00000101974 |
| UniProt ID | O14646 |
| OMIM ID | 602118 |
| HGNC ID | 1915 |
| Aliases | PILBOS, SPT2, ATP-dependent helicase CHD1 |
Description
CHD1 encodes a member of the chromodomain helicase DNA-binding protein family that functions as an ATP-dependent chromatin remodeling factor. The protein contains two chromodomains, a helicase ATP-binding domain, a helicase C-terminal domain, and a DNA-binding domain. It plays a critical role in maintaining open chromatin structure, regulating transcription, and facilitating DNA repair. CHD1 is frequently deleted in prostate cancer and is essential for androgen receptor signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | CHD1 deletion leads to genomic instability and altered androgen receptor signaling; loss of CHD1 promotes tumor progression and metastasis | ClinVar, COSMIC |
| Pilarowski-Bjornsson syndrome (PILBOS) | Heterozygous loss-of-function mutations in CHD1 cause developmental delay, intellectual disability, speech delay, and dysmorphic features | OMIM #617682 |
| Breast cancer | CHD1 loss is associated with aggressive subtypes and poor prognosis | COSMIC |
| Colorectal cancer | CHD1 mutations contribute to microsatellite instability and tumorigenesis | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.1 | High |
| Prostate | 22.5 | High |
| Brain (cerebellum) | 18.3 | Medium |
| Heart | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Lung | 11.4 | Medium |
| Kidney | 10.9 | Medium |
| Pancreas | 9.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| LNCaP (prostate cancer) | 25.3 | Androgen-responsive line |
| PC3 (prostate cancer) | 18.7 | Androgen-independent line |
| MCF7 (breast cancer) | 20.1 | Estrogen receptor positive |
| HEK293 (embryonic kidney) | 22.0 | Common model for overexpression |
| HCT116 (colorectal cancer) | 19.5 | Microsatellite unstable |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Deletion (whole gene) | Copy number loss | ~15-20% in prostate cancer | Loss of function; drives tumorigenesis |
| p.Arg1166* | Nonsense | <1% | Truncation; loss of helicase domain |
| p.Gln1128fs | Frameshift | <1% | Loss of function |
| p.Arg1129Cys | Missense | <1% | Impaired chromatin remodeling |
| p.Arg1166Gln | Missense | <1% | Reduced ATPase activity |
Mutation functional classification
Loss of Function (LOF)
Most CHD1 mutations in cancer and PILBOS are loss-of-function, including deletions, nonsense, and frameshift variants that abolish chromatin remodeling activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CHD1.
Dominant Negative (DN)
Some missense mutations in the helicase domain may act in a dominant-negative manner by sequestering interaction partners, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • ATP-dependent chromatin remodeling (GO:0043044) | • DNA binding (GO:0003677) |
| • Helicase activity (GO:0004386) | • Chromatin binding (GO:0003682) |
| • Regulation of transcription by RNA polymerase II (GO:0006357) | • DNA repair (GO:0006281) |
| • Nucleosome disassembly (GO:0006337) |
Pathways
• Chromatin remodeling by ATP-dependent complexes
• Androgen receptor signaling pathway
• DNA double-strand break repair via homologous recombination
• Transcriptional regulation by RUNX1
Protein Summary
CHD1 is a 1,710-amino acid ATP-dependent chromatin remodeler that slides and evicts nucleosomes to maintain open chromatin. It contains two N-terminal chromodomains that bind methylated histones, a central SNF2-like helicase/ATPase domain, and a C-terminal DNA-binding domain. CHD1 is essential for maintaining genomic integrity, facilitating transcription elongation, and promoting DNA repair by homologous recombination. Its loss is a hallmark of prostate cancer and causes Pilarowski-Bjornsson syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHD1L Knockout HEK293 Cell Line | EDJ-KQ17864 | Human | 9557 | Details Get a Quote |
| CHD1L Knockout HCT 116 Cell Line | EDJ-KQ18225 | Human | 9557 | Details Get a Quote |
| CHD1L Knockout A-549 Cell Line | EDJ-KQ25332 | Human | 9557 | Details Get a Quote |
| CHD1L Knockout HeLa Cell Line | EDJ-KQ25333 | Human | 9557 | Details Get a Quote |
