BRCC3 Gene - BRCA1/BRCA2-Containing Complex Subunit 3
A deubiquitinating enzyme involved in DNA repair and cell cycle regulation
Gene Information Card
| Symbol | BRCC3 |
|---|---|
| Full Name | BRCA1/BRCA2-Containing Complex Subunit 3 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 79184 ncbi.nlm.nih.gov/gene/79184 |
| Ensembl ID | ENSG00000101981 |
| UniProt ID | P46736 |
| OMIM ID | 300617 |
| HGNC ID | 24285 |
| Aliases | BRCC36, C6.1A, CXorf53 |
Description
BRCC3 (BRCA1/BRCA2-Containing Complex Subunit 3) encodes a deubiquitinating enzyme that is a component of the BRCA1-BRCA2-containing complex (BRCC). This complex is involved in the repair of double-strand DNA breaks via homologous recombination and in the G2/M cell cycle checkpoint. BRCC3 specifically cleaves lysine-63-linked polyubiquitin chains, regulating DNA damage signaling and repair. Mutations in BRCC3 are associated with Fanconi anemia and X-linked intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of BRCC3 impairs homologous recombination repair, increasing genomic instability and susceptibility to breast cancer. | ClinVar, COSMIC |
| Fanconi anemia | Biallelic mutations in BRCC3 disrupt DNA interstrand crosslink repair, leading to bone marrow failure and cancer predisposition. | OMIM, ClinVar |
| X-linked intellectual disability | Hemizygous mutations in BRCC3 cause syndromic intellectual disability with microcephaly and seizures. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Medium |
| Lymph node | 6.7 | Low |
| Brain | 4.2 | Low |
| Breast | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Embryonic kidney cells |
| HeLa | 7.5 | Cervical cancer cells |
| MCF7 | 5.2 | Breast cancer cells |
| K562 | 4.1 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.302G>A (p.Arg101Gln) | Missense | Rare | Impaired deubiquitinase activity |
| c.503_504del (p.Glu168Glyfs*2) | Frameshift | Rare | Premature truncation, loss of function |
| c.637C>T (p.Arg213*) | Nonsense | Rare | Nonsense-mediated decay, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations in BRCC3 are loss-of-function, leading to impaired DNA repair and genomic instability.
Gain of Function (GOF)
No gain-of-function mutations have been reported for BRCC3.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for BRCC3.
View complete mutation data：
Gene Ontology (GO)
| • thiol-dependent deubiquitinase (GO:0004843) | • nucleus (GO:0005634) |
| • DNA repair (GO:0006281) | • double-strand break repair (GO:0006302) |
| • ubiquitin-dependent protein catabolic process (GO:0006511) | • protein deubiquitination (GO:0016579) |
| • DNA duplex unwinding (GO:0032508) | • BRCA1-A complex (GO:0070531) |
Pathways
• Homologous recombination repair
• BRCA1-BRCA2-containing complex (BRCC) pathway
• Fanconi anemia pathway
• Ubiquitin-proteasome pathway
Protein Summary
BRCC3 is a 36 kDa deubiquitinating enzyme (DUB) that specifically cleaves lysine-63-linked polyubiquitin chains. It is a core component of the BRCA1-A complex, which is recruited to sites of DNA double-strand breaks to promote repair and checkpoint activation. The protein contains a JAMM/MPN+ domain responsible for its catalytic activity. BRCC3 interacts with BRCA1, BARD1, and other repair factors to facilitate homologous recombination. Loss of BRCC3 function leads to defective DNA repair, increased sensitivity to DNA-damaging agents, and predisposition to cancer and developmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BRCC3 Knockout HEK293 Cell Line | EDJ-KQ11854 | Human | 79184 | Details Get a Quote |
| BRCC3 Knockout A-549 Cell Line | EDJ-KQ41579 | Human | 79184 | Details Get a Quote |
| BRCC3 Knockout HCT 116 Cell Line | EDJ-KQ41580 | Human | 79184 | Details Get a Quote |
| BRCC3 Knockout HeLa Cell Line | EDJ-KQ41581 | Human | 79184 | Details Get a Quote |
| BRCC3 Knockout HAP1 Cell Line | EDC07990 | Human | 79184 | Details Get a Quote |
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