CHAF1B
Chromatin Assembly Factor 1 Subunit B
Gene Information Card
| Symbol | CHAF1B |
|---|---|
| Full Name | Chromatin Assembly Factor 1 Subunit B |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.13 |
| NCBI Gene ID | 8208 ncbi.nlm.nih.gov/gene/8208 |
| Ensembl ID | ENSG00000159259 |
| UniProt ID | Q13112 |
| OMIM ID | 601245 |
| HGNC ID | 1911 |
| Aliases | CAF-1 p60, CAF1B, CAF1P60, MGC71229 |
Description
CHAF1B encodes the p60 subunit of chromatin assembly factor 1 (CAF-1), a histone chaperone complex that deposits histones H3 and H4 onto newly synthesized DNA during replication. CAF-1 is essential for nucleosome assembly and chromatin maintenance, linking DNA replication to chromatin formation. CHAF1B is involved in cell cycle progression, DNA repair, and genomic stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of CHAF1B promotes cell proliferation and correlates with poor prognosis; CAF-1 p60 enhances chromatin assembly to support rapid cell division. | PMID: 25605274 |
| Colorectal cancer | CHAF1B upregulation associated with tumor progression and metastasis; CAF-1 p60 facilitates chromatin remodeling in cancer cells. | PMID: 29057921 |
| Hepatocellular carcinoma | Elevated CHAF1B expression linked to aggressive tumor features and shorter survival; CAF-1 p60 drives replication-coupled chromatin assembly. | PMID: 30120210 |
| Lung adenocarcinoma | CHAF1B overexpression correlates with advanced stage and poor outcome; promotes cell cycle progression via chromatin assembly. | PMID: 31525634 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Bone marrow | 12.8 | Medium |
| Lymph node | 11.5 | Medium |
| Spleen | 10.9 | Medium |
| Thymus | 10.3 | Medium |
| Colon | 8.7 | Low |
| Breast | 7.4 | Low |
| Lung | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line; high expression |
| K562 | 16.2 | Leukemia cell line; high expression |
| A549 | 12.1 | Lung cancer cell line; moderate expression |
| MCF7 | 10.8 | Breast cancer cell line; moderate expression |
| HEK293 | 9.4 | Embryonic kidney cell line; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | <0.01% | Unknown functional impact; rare variant in population databases |
| c.1430G>A (p.Arg477Gln) | Missense | <0.01% | Reported in COSMIC; potential role in cancer |
| c.1663C>T (p.Arg555Cys) | Missense | <0.01% | Observed in ClinVar; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in CHAF1B; complete loss likely lethal due to essential role in replication.
Gain of Function (GOF)
Overexpression of wild-type CHAF1B is observed in multiple cancers, suggesting a gain-of-function effect via increased chromatin assembly and proliferation.
Dominant Negative (DN)
No dominant-negative mutations described for CHAF1B.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Chromatin assembly (CAF-1 pathway)
• DNA replication
• Cell cycle
• Chromatin remodeling
Protein Summary
CHAF1B encodes the p60 subunit of the CAF-1 complex, a histone chaperone that delivers histones H3 and H4 to replicating DNA, facilitating nucleosome assembly. The protein localizes to the nucleus and interacts with PCNA to couple chromatin assembly with DNA replication. CHAF1B is essential for cell viability and genomic stability, and its overexpression is implicated in various cancers.
Related Services
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|---|---|---|---|---|
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