Gene Gene information from NCBI Gene database.
Entrez ID 79184
Gene name BRCA1/BRCA2-containing complex subunit 3
Gene symbol BRCC3
Synonyms (NCBI Gene)
BRCC36C6.1ACXorf53
Chromosome X
Chromosome location Xq28
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
miRNA miRNA information provided by mirtarbase database.
440
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
57
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 Cysteine-type deubiquitinase activity IEA
GO:0005515 Function Protein binding IPI 14636569, 18077395, 19202061, 19261748, 19261749, 19615732, 32296183, 33961781, 37398436
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300617 24185 ENSG00000185515
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
8
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary cancer-predisposing syndrome Likely benign rs184669955, rs782283086, rs869312527, rs376342905, rs869312528, rs869312529, rs869312530, rs190280980 RCV000209191
RCV000209521
RCV000208901
RCV000209349
RCV000209556
RCV000208939
RCV000209266
RCV000209682
Associations from Text MiningDisease associations identified through Pubtator
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