BRCC3 - BRCA1/BRCA2-containing complex subunit 3 Gene

Also Known as C6.1A; BRCC36; CXorf53

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79184

About BRCC3

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:155,071,508-155,123,077 (from NCBI)

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

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

  • BRCA1-A complex subunit 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
Cross: Cross-species interaction Intra: Intraspecies interaction

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
  • Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome

  • MYMY4

  • Chromosome Xq28 Deletion Syndrome, 3.4-Kb

  • Syndromic Moyamoya Disease

  • Moyamoya Disease 4

  • Moyamoya Disease-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism

Hereditary Breast Ovarian Cancer Syndrome
  • Hereditary Breast And Ovarian Cancer Syndrome

  • Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

  • Breast And/Or Ovarian Cancer

  • Breast And Ovarian Cancer Syndrome

  • Hboc Syndrome

  • Hereditary Breast And Ovarian Cancer

  • Brca1- Brca2-Associated Hboc

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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