BRCC3 - BRCA1/BRCA2-containing complex subunit 3 Gene

Homo sapiens

Also known as C6.1A; BRCC36; CXorf53

Gene ID: 79184 | Gene type: protein coding

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

0
100
200
316 a.a.

Protein Preferred Names

Protein Names

lys-63-specific deubiquitinase BRCC36

BRCA1-A complex subunit BRCC36

Recombinant BRCC3 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72107	BRCC36 Protein, Human (His-SUMO)	P46736 (A2-E316)	≥95%

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01595	BRCC3 Human Pre-designed siRNA Set A		/	Unkown

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

Name
Email *

	Sorry, but the email address you supplied was invalid.