BRCC3 - BRCA1/BRCA2-containing complex subunit 3 Gene
Also Known as C6.1A; BRCC36; CXorf53
Species: Homo sapiens
About BRCC3
This gene has 7 transcripts (splice variants), 208 orthologues, 3 paralogues and is associated with 1 phenotype. Ubiquitous expression in colon (RPKM 4.9), esophagus (RPKM 3.5) and 25 other tissues.
Summary
This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin Ligase. This complex plays a role in the DNA damage response, where it is responsible for the stable accumulation of BRCA1 at DNA break sites. The component encoded by this gene can specifically cleave Lys 63-linked polyubiquitin chains, and it regulates the abundance of these polyubiquitin chains in chromatin. The loss of this gene results in abnormal angiogenesis and is associated with syndromic moyamoya, a cerebrovascular angiopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jun 2011]
BRCC3 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001018055.3 | NP_001018065.1 | lys-63-specific deubiquitinase BRCC36 isoform 2 |
| NM_001242640.2 | NP_001229569.1 | lys-63-specific deubiquitinase BRCC36 isoform 3 |
| NM_024332.4 | NP_077308.1 | lys-63-specific deubiquitinase BRCC36 isoform 1 |
BRCC3 Protein Structure
JAB: JAB1/Mov34/MPN/PAD-1 ubiquitin protease (7 - 148)
- 0
- 100
- 200
- 300
- 316 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
lys-63-specific deubiquitinase BRCC36 |
|
BRCC3 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
BRCC3 | P46736 | ABRAXAS2 | Homo sapiens | Q15018 | 37398436 | |
|
Intra
|
BRCC3 | P46736 | ABRAXAS2 | Homo sapiens | Q15018 | 19615732 | |
|
Intra
|
BRCC3 | P46736 | ABRAXAS2 | Homo sapiens | Q15018 | 37398436 | |
|
Intra
|
BRCC3 | P46736 | ABRAXAS1 | Homo sapiens | Q6UWZ7 | 19615732 | |
|
Intra
|
BRCC3 | P46736 | ANKRD11 | Homo sapiens | X5D778 | 32296183 | |
|
Intra
|
BRCC3 | P46736 | SHMT2 | Homo sapiens | P34897 | 19615732 | |
|
Intra
|
BRCC3 | P46736 | UIMC1 | Homo sapiens | Q96RL1-1 | 18077395 | |
|
Intra
|
BRCC3 | P46736 | UIMC1 | Homo sapiens | Q96RL1-1 | 19202061 |
Recombinant BRCC3 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P72107 | BRCC36 Protein, Human (His-SUMO) | P46736 (A2-E316) | ≥ 90%, as determined by reducing SDS-PAGE. |
BRCC3 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82553 | BRCC36 Antibody (YA2298) | WB, FC | Human, Mouse, Rat |
| HY-P82553A | BRCC36 Antibody (YA2298)(PBS only) | WB, FC | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
|
| Hereditary Breast Ovarian Cancer Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | BRCC3 | VGNC | VGNC:26555 |
| Rattus norvegicus | BRCC3 | RGD | RGD:1588543 |
| Mus musculus | BRCC3 | MGD | MGI:2389572 |
| Macaca mulatta | BRCC3 | VGNC | VGNC:103793 |
| Felis catus | BRCC3 | VGNC | VGNC:97368 |
| Others | BRCC3 | NCBI |