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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Hereditary cancer-predisposing syndrome Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MOYAMOYA ANGIOPATHY, SHORT STATURE, FACIAL DYSMORPHISM, HYPERGONADOTROPIC HYPOGONADISM SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE Disgenet, GenCC
Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 16707425, 30272359
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 14636569, 26024915, 34309165 Associate
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 30272359
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 30272359
★☆☆☆☆
Found in Text Mining only
Dry Eye Syndromes Dry Eye Syndromes BEFREE 28238526
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 25337721
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 25337721
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 25337721
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory bowel disease Pubtator 37681916 Associate
★☆☆☆☆
Found in Text Mining only
Leiomyoma Leiomyoma Pubtator 21685710 Associate
★☆☆☆☆
Found in Text Mining only