CHAF1A
Chromatin Assembly Factor 1 Subunit A
Gene Information Card
| Symbol | CHAF1A |
|---|---|
| Full Name | Chromatin Assembly Factor 1 Subunit A |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 10036 ncbi.nlm.nih.gov/gene/10036 |
| Ensembl ID | ENSG00000167670 |
| UniProt ID | Q13111 |
| OMIM ID | 601246 |
| HGNC ID | 1910 |
| Aliases | CAF-1 p150, CAF1B, P150 |
Description
CHAF1A encodes the largest subunit (p150) of chromatin assembly factor 1 (CAF-1), a histone chaperone that deposits histones H3/H4 onto newly synthesized DNA during replication and repair. It is essential for chromatin assembly, epigenetic inheritance, and genome stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of CHAF1A promotes cell proliferation and tumor growth via enhanced chromatin assembly | COSMIC, ClinVar |
| Colorectal cancer | CHAF1A upregulation correlates with poor prognosis and increased metastasis | COSMIC |
| Lung cancer | CHAF1A amplification drives oncogenic transformation through altered chromatin dynamics | COSMIC |
| Hepatocellular carcinoma | CHAF1A overexpression linked to aggressive tumor phenotype and reduced survival | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 16.3 | Medium |
| Bone marrow | 12.1 | Medium |
| Lymph node | 10.5 | Medium |
| Spleen | 9.8 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | High expression |
| K562 | 15.2 | High expression |
| A549 | 12.8 | Medium expression |
| MCF7 | 11.0 | Medium expression |
| HEK293 | 9.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.1% | Unknown functional impact |
| c.567delA (p.Glu190fs) | Frameshift | <0.1% | Predicted loss of function |
| c.890G>A (p.Arg297Gln) | Missense | <0.1% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.567delA) likely cause loss of function by truncating the protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • chromatin assembly | • nucleosome assembly |
| • DNA replication-dependent chromatin assembly | • histone binding |
| • protein heterodimerization activity | • nucleus |
| • chromatin |
Pathways
• Chromatin assembly (CAF-1 pathway)
• DNA replication
• DNA repair
Protein Summary
CHAF1A (p150) is the largest subunit of CAF-1, a histone chaperone complex that delivers histones H3/H4 to replicating DNA. It contains WD40 repeats and a C-terminal acidic domain, facilitating interactions with histones and PCNA. The protein is critical for maintaining chromatin structure and epigenetic marks during cell division.
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