CHD1L
Chromodomain Helicase DNA Binding Protein 1 Like
Gene Information Card
| Symbol | CHD1L |
|---|---|
| Full Name | Chromodomain Helicase DNA Binding Protein 1 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.1 |
| NCBI Gene ID | 9557 ncbi.nlm.nih.gov/gene/9557 |
| Ensembl ID | ENSG00000131778 |
| UniProt ID | Q86WJ1 |
| OMIM ID | 613039 |
| HGNC ID | 1916 |
| Aliases | ALC1, CHD1L1, CHD1L2 |
Description
CHD1L (ALC1) encodes a chromatin-remodeling enzyme that belongs to the SNF2 family of ATP-dependent helicases. It functions in DNA damage repair by promoting poly(ADP-ribose)-dependent chromatin relaxation and is implicated in transcriptional regulation, cell proliferation, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | CHD1L amplification and overexpression drive oncogenic transformation via enhanced cell proliferation and migration | PMID: 19029980 |
| Colorectal cancer | CHD1L overexpression correlates with poor prognosis and promotes metastasis through EMT induction | PMID: 25242043 |
| Breast cancer | CHD1L amplification associated with aggressive tumor phenotypes and chemoresistance | PMID: 25605248 |
| Neurodevelopmental disorders | De novo missense variants in CHD1L linked to intellectual disability and autism spectrum disorder | PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Colon | 8.3 | Low |
| Breast | 6.7 | Low |
| Brain | 4.2 | Low |
| Testis | 15.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.8 | Hepatocellular carcinoma cell line |
| HeLa | 9.2 | Cervical adenocarcinoma cell line |
| MCF7 | 7.5 | Breast cancer cell line |
| HEK293 | 6.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Reduced ATPase activity and impaired DNA repair |
| c.1678G>A (p.Gly560Ser) | Missense | <0.01% | Altered chromatin binding; associated with neurodevelopmental phenotypes |
| Amplification (1q21.1) | Copy number gain | ~5-10% in HCC | Oncogenic overexpression |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the helicase domain (e.g., p.Arg412Trp) impair ATPase activity and chromatin remodeling, leading to defective DNA repair.
Gain of Function (GOF)
Gene amplification and overexpression in cancers enhance cell proliferation and migration, acting as an oncogenic driver.
Dominant Negative (DN)
Not well characterized; some missense variants may interfere with wild-type CHD1L function in DNA repair complexes.
View complete mutation data：
Gene Ontology (GO)
| • ATP-dependent chromatin remodeling | • DNA repair |
| • DNA helicase activity | • Poly(ADP-ribose) binding |
| • Chromatin binding | • Nucleosome remodeling |
Pathways
• Base excision repair
• Double-strand break repair via homologous recombination
• Chromatin remodeling
• PARP1-mediated repair
Protein Summary
CHD1L (ALC1) is a 102 kDa nuclear protein containing a chromodomain and a SNF2-like ATPase/helicase domain. It is recruited to sites of DNA damage via poly(ADP-ribose) binding, where it catalyzes ATP-dependent nucleosome sliding to facilitate repair. Overexpression in multiple cancers suggests a role in tumorigenesis.
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 |
