Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79184
Gene name Gene Name - the full gene name approved by the HGNC.
BRCA1/BRCA2-containing complex subunit 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BRCC3
Synonyms (NCBI Gene) Gene synonyms aliases
BRCC36, C6.1A, CXorf53
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq28
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT049186 hsa-miR-92a-3p CLASH 23622248
MIRT041195 hsa-miR-193b-3p CLASH 23622248
MIRT524738 hsa-miR-3121-5p HITS-CLIP 21572407
MIRT550785 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT541943 hsa-miR-5011-5p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IDA 14636569
GO:0000152 Component Nuclear ubiquitin ligase complex IDA 14636569
GO:0000922 Component Spindle pole IEA
GO:0004843 Function Thiol-dependent ubiquitin-specific protease activity IBA 21873635
GO:0004843 Function Thiol-dependent ubiquitin-specific protease activity IMP 19261746
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300617 24185 ENSG00000185515
Protein
UniProt ID P46736
Protein name Lys-63-specific deubiquitinase BRCC36 (EC 3.4.19.-) (BRCA1-A complex subunit BRCC36) (BRCA1/BRCA2-containing complex subunit 3) (BRCA1/BRCA2-containing complex subunit 36) (BRISC complex subunit BRCC36)
Protein function Metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains (PubMed:19214193, PubMed:20656690, PubMed:24075985, PubMed:26344097). Does not have activity toward 'Lys-48'-linked polyubiquitin chains (PubMed:19214193, PubMed:2065
PDB 6H3C , 6R8F , 8PVY , 8PY2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01398 JAB 7 148 JAB1/Mov34/MPN/PAD-1 ubiquitin protease Family
PF18110 BRCC36_C 228 308 BRCC36 C-terminal helical domain Domain
Tissue specificity TISSUE SPECIFICITY: Heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Aberrantly expressed in the vast majority of breast tumors. {ECO:0000269|PubMed:16707425}.
Sequence
Sequence length 316
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Homologous recombination
NOD-like receptor signaling pathway
  Metalloprotease DUBs
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Nonhomologous End-Joining (NHEJ)
Processing of DNA double-strand break ends
G2/M DNA damage checkpoint
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Moyamoya disease Moyamoya Disease rs121434527, rs121434528, rs387906592, rs397514563, rs797045187, rs1555675538, rs1568149971, rs1599150380, rs2079443410 21596366
Unknown
Disease term Disease name Evidence References Source
Moyamoya Disease Moyamoya disease GenCC
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 14636569, 26024915, 34309165
Inflammation Associate 37681916
Inflammatory Bowel Diseases Associate 37681916
Leiomyoma Associate 21685710
Moyamoya Disease Associate 25093848
Nasopharyngeal Carcinoma Associate 26024915
Neoplasms Inhibit 26848770, 37887275
Neoplasms Associate 31253574
Niemann Pick Disease Type C Associate 26024915
Oncogene Addiction Associate 17167184