BABAM1 (BRISC and BRCA1 A complex member 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 29086
Gene name BRISC and BRCA1 A complex member 1
Gene symbol BABAM1
Synonyms (NCBI Gene)
C19orf62HSPC142MERIT40NBA1
Chromosome 19
Chromosome location 19p13.11
miRNA miRNA information provided by mirtarbase database.
19
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (19)
miRTarBase ID miRNA Experiments Reference
MIRT022677 hsa-miR-124-3p Microarray 18668037
MIRT029479 hsa-miR-26b-5p Microarray 19088304
MIRT048297 hsa-miR-107 CLASH 23622248
MIRT814131 hsa-miR-377 CLIP-seq
MIRT814132 hsa-miR-4470 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (35)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 19261748, 19261749, 19615732, 21044950, 22153077, 25416956, 28514442, 31515488, 32296183, 33961781, 37398436
GO:0005634 Component Nucleus IDA 19261746, 19261748, 19261749
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus NAS 20656689
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612766 25008 ENSG00000105393
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NWV8
Protein name BRISC and BRCA1-A complex member 1 (Mediator of RAP80 interactions and targeting subunit of 40 kDa) (New component of the BRCA1-A complex)
Protein function Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs
PDB 6H3C , 8PVY , 8PY2
Family and domains
Sequence 
MEVAEPSSPTEEEEEEEEHSAEPRPRTRSNPEGAEDRAVGAQASVGSRSEGEGEAASADD
GSLNTSGAGPKSWQVPPPAPEVQIRTPRVNCPEKVIICLDLSEEMSLPKLESFNGSKTNA
LNVSQKMIEMFVRTKHKIDKSHEFALVVVNDDTAWLSGLTSDPRELCSCLYDLETASCST
FNLEGLFSLIQQKTELPVTENVQTIPPPYVVRTILVYSRPPCQPQFSLTEPMKKMFQCPY
FFFDVVYIHNGTEEKEEEMSWKDMFAFMGSLDTKGTSYKYEVALAGPALELHNCMAKLLA
HPLQRPCQSHASYSLLEEEDEAIEVEATV
Sequence length 329
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Homologous recombination   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.).
24
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (24)
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
BILIARY TRACT CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (39)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 27197191
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASCAT_DG 27197191
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Cancer, Familial Breast Cancer BEFREE 19572197
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 19572197, 21431873, 23593120
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma GWASCAT_DG 20852631, 23535733, 23544013, 27117709, 27197191
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma GWASDB_DG 23544013
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 19572197, 20852631, 21799032, 21844186, 22331459, 22351618, 23136140, 23593120, 24528085, 26027929, 26472073 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 37248434 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma GWASCAT_DG 27197191
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 20852633, 26747452 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only