Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	29086
Gene name Gene Name - the full gene name approved by the HGNC.	BRISC and BRCA1 A complex member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BABAM1
Synonyms (NCBI Gene) Gene synonyms aliases	C19orf62, HSPC142, MERIT40, NBA1
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19p13.11

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
MIRT814133	hsa-miR-548c-3p	CLIP-seq
MIRT1940723	hsa-miR-3130-5p	CLIP-seq
MIRT1940724	hsa-miR-4482	CLIP-seq
MIRT1940725	hsa-miR-580	CLIP-seq
MIRT2179719	hsa-miR-1295	CLIP-seq
MIRT2179720	hsa-miR-146a	CLIP-seq
MIRT2179721	hsa-miR-146b-5p	CLIP-seq
MIRT1940723	hsa-miR-3130-5p	CLIP-seq
MIRT2179722	hsa-miR-3690	CLIP-seq
MIRT2179723	hsa-miR-4254	CLIP-seq
MIRT1940724	hsa-miR-4482	CLIP-seq
MIRT2179724	hsa-miR-4717-5p	CLIP-seq
MIRT1940725	hsa-miR-580	CLIP-seq
MIRT2179725	hsa-miR-589	CLIP-seq

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
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	19261749, 24075985
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006282	Process	Regulation of DNA repair	NAS	20656689
GO:0006302	Process	Double-strand break repair	IBA
GO:0006302	Process	Double-strand break repair	IMP	19261746, 19261748, 19261749
GO:0006325	Process	Chromatin organization	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007095	Process	Mitotic G2 DNA damage checkpoint signaling	IBA
GO:0007095	Process	Mitotic G2 DNA damage checkpoint signaling	IMP	19261746, 19261748, 19261749
GO:0010212	Process	Response to ionizing radiation	IMP	19261748, 19261749
GO:0016604	Component	Nuclear body	IBA
GO:0016604	Component	Nuclear body	IDA
GO:0042802	Function	Identical protein binding	IPI	37398436
GO:0044818	Process	Mitotic G2/M transition checkpoint	NAS	22369660
GO:0045739	Process	Positive regulation of DNA repair	IEA
GO:0045739	Process	Positive regulation of DNA repair	IMP	19261746, 19261748, 19261749
GO:0051301	Process	Cell division	IEA
GO:0070531	Component	BRCA1-A complex	IBA
GO:0070531	Component	BRCA1-A complex	IDA	19261746, 19261748, 19261749
GO:0070531	Component	BRCA1-A complex	IEA
GO:0070531	Component	BRCA1-A complex	NAS	20656689
GO:0070552	Component	BRISC complex	IBA
GO:0070552	Component	BRISC complex	IDA	19214193, 24075985
GO:0070552	Component	BRISC complex	IEA
GO:0071425	Process	Hematopoietic stem cell proliferation	IEA
GO:0140861	Process	DNA repair-dependent chromatin remodeling	IMP	19261746

MIM	HGNC	e!Ensembl
612766	25008	ENSG00000105393

Protein

UniProt ID

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

	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

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast cancer	Breast cancer (estrogen-receptor negative), Breast cancer, Breast Cancer in BRCA1 mutation carriers	N/A	N/A	GWAS
Ovarian cancer	Epithelial ovarian cancer	N/A	N/A	GWAS

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Breast Neoplasms	Associate	19572197, 20852631, 21799032, 21844186, 22331459, 22351618, 23136140, 23593120, 24528085, 26027929, 26472073
Breast Neoplasms	Stimulate	37248434
Carcinoma Ovarian Epithelial	Associate	20852633, 26747452
Carcinoma Squamous Cell	Associate	28115406
Diabetes Gestational	Associate	37664858
DNA Virus Infections	Associate	26027929
Hereditary Breast and Ovarian Cancer Syndrome	Associate	22351618, 28115406
Macular Edema	Associate	37585454
Neoplasms	Associate	26848770
Neoplasms	Inhibit	26848770
Ovarian Neoplasms	Associate	20852633, 28115406
Prostatitis	Associate	28115406
Schizophrenia	Associate	23805179
Triple Negative Breast Neoplasms	Associate	21844186, 23136140, 26848770
Triple Negative Breast Neoplasms	Inhibit	26848770

BABAM1 (BRISC and BRCA1 A complex member 1)