Gene Gene information from NCBI Gene database.
Entrez ID 672
Gene name BRCA1 DNA repair associated
Gene symbol BRCA1
Synonyms (NCBI Gene)
BRCAIBRCC1BROVCA1FANCSIRISPNCA4PPP1R53PSCPRNF53
Chromosome 17
Chromosome location 17q21.31
Summary This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor supp
SNPs SNP information provided by dbSNP.
2726
SNP ID Visualize variation Clinical significance Consequence
rs799917 G>A,C,T Benign-likely-benign, benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs1799966 T>A,C Benign-likely-benign, likely-benign, benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, non coding transcript variant, missense variant
rs1799967 C>T Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, non coding transcript variant, missense variant
rs1800064 C>A,T Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, non coding transcript variant, synonymous variant, intron variant
rs1800747 C>A,G,T Likely-pathogenic, not-provided, pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
107
miRTarBase ID miRNA Experiments Reference
MIRT003333 hsa-miR-15a-5p Luciferase reporter assay 19144710
MIRT003328 hsa-miR-16-5p Luciferase reporter assay 19144710
MIRT001920 hsa-miR-146a-5p Luciferase reporter assay 18660546
MIRT001920 hsa-miR-146a-5p Luciferase reporter assay 18660546
MIRT003333 hsa-miR-15a-5p Review 20026422
Transcription factors Transcription factors information provided by TRRUST V2 database.
42
Transcription factor Regulation Reference
AHR Unknown 18259752
ARNT Unknown 16567799
CHD8 Unknown 16949368
CREBBP Unknown 23285190
CTBP1 Repression 20818429
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
123
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex NAS 14976165
GO:0000152 Component Nuclear ubiquitin ligase complex IDA 14636569
GO:0000724 Process Double-strand break repair via homologous recombination IBA
GO:0000724 Process Double-strand break repair via homologous recombination IDA 17349954, 28398198
GO:0000793 Component Condensed chromosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
113705 1100 ENSG00000012048
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P38398
Protein name Breast cancer type 1 susceptibility protein (EC 2.3.2.27) (RING finger protein 53) (RING-type E3 ubiquitin transferase BRCA1)
Protein function E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage (PubMed:10500182, PubMed:12887909, PubMed:1289068
PDB 1JM7 , 1JNX , 1N5O , 1OQA , 1T15 , 1T29 , 1T2U , 1T2V , 1Y98 , 2ING , 3COJ , 3K0H , 3K0K , 3K15 , 3K16 , 3PXA , 3PXB , 3PXC , 3PXD , 3PXE , 4IFI , 4IGK , 4JLU , 4OFB , 4U4A , 4Y18 , 4Y2G , 6G2I , 7JZV , 7LYB , 8GRQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00097 zf-C3HC4 24 64 Zinc finger, C3HC4 type (RING finger) Domain
PF12820 BRCT_assoc 345 508 Serine-rich domain associated with BRCT Domain
PF00533 BRCT 1644 1723 BRCA1 C Terminus (BRCT) domain Family
PF00533 BRCT 1756 1842 BRCA1 C Terminus (BRCT) domain Family
Tissue specificity TISSUE SPECIFICITY: Isoform 1 and isoform 3 are widely expressed. Isoform 3 is reduced or absent in several breast and ovarian cancer cell lines.
Sequence
MDLSALRVEEVQNVINAMQKILECPICLELIKEPVSTKCDHIFCKFCMLKLLNQKKGPSQ
CPLC
KNDITKRSLQESTRFSQLVEELLKIICAFQLDTGLEYANSYNFAKKENNSPEHLKD
EVSIIQSMGYRNRAKRLLQSEPENPSLQETSLSVQLSNLGTVRTLRTKQRIQPQKTSVYI
ELGSDSSEDTVNKATYCSVGDQELLQITPQGTRDEISLDSAKKAACEFSETDVTNTEHHQ
PSNNDLNTTEKRAAERHPEKYQGSSVSNLHVEPCGTNTHASSLQHENSSLLLTKDRMNVE
KAEFCNKSKQPGLARSQHNRWAGSKETCNDRRTPSTEKKVDLNADPLCERKEWNKQKLPC
SENPRDTEDVPWITLNSSIQKVNEWFSRSDELLGSDDSHDGESESNAKVADVLDVLNEVD
EYSGSSEKIDLLASDPHEALICKSERVHSKSVESNIEDKIFGKTYRKKASLPNLSHVTEN
LIIGAFVTEPQIIQERPLTNKLKRKRRP
TSGLHPEDFIKKADLAVQKTPEMINQGTNQTE
QNGQVMNITNSGHENKTKGDSIQNEKNPNPIESLEKESAFKTKAEPISSSISNMELELNI
HNSKAPKKNRLRRKSSTRHIHALELVVSRNLSPPNCTELQIDSCSSSEEIKKKKYNQMPV
RHSRNLQLMEGKEPATGAKKSNKPNEQTSKRHDSDTFPELKLTNAPGSFTKCSNTSELKE
FVNPSLPREEKEEKLETVKVSNNAEDPKDLMLSGERVLQTERSVESSSISLVPGTDYGTQ
ESISLLEVSTLGKAKTEPNKCVSQCAAFENPKGLIHGCSKDNRNDTEGFKYPLGHEVNHS
RETSIEMEESELDAQYLQNTFKVSKRQSFAPFSNPGNAEEECATFSAHSGSLKKQSPKVT
FECEQKEENQGKNESNIKPVQTVNITAGFPVVGQKDKPVDNAKCSIKGGSRFCLSSQFRG
NETGLITPNKHGLLQNPYRIPPLFPIKSFVKTKCKKNLLEENFEEHSMSPEREMGNENIP
STVSTISRNNIRENVFKEASSSNINEVGSSTNEVGSSINEIGSSDENIQAELGRNRGPKL
NAMLRLGVLQPEVYKQSLPGSNCKHPEIKKQEYEEVVQTVNTDFSPYLISDNLEQPMGSS
HASQVCSETPDDLLDDGEIKEDTSFAENDIKESSAVFSKSVQKGELSRSPSPFTHTHLAQ
GYRRGAKKLESSEENLSSEDEELPCFQHLLFGKVNNIPSQSTRHSTVATECLSKNTEENL
LSLKNSLNDCSNQVILAKASQEHHLSEETKCSASLFSSQCSELEDLTANTNTQDPFLIGS
SKQMRHQSESQGVGLSDKELVSDDEERGTGLEENNQEEQSMDSNLGEAASGCESETSVSE
DCSGLSSQSDILTTQQRDTMQHNLIKLQQEMAELEAVLEQHGSQPSNSYPSIISDSSALE
DLRNPEQSTSEKAVLTSQKSSEYPISQNPEGLSADKFEVSADSSTSKNKEPGVERSSPSK
CPSLDDRWYMHSCSGSLQNRNYPSQEELIKVVDVEEQQLEESGPHDLTETSYLPRQDLEG
TPYLESGISLFSDDPESDPSEDRAPESARVGNIPSSTSALKVPQLKVAESAQSPAAAHTT
DTAGYNAMEESVSREKPELTASTERVNKRMSMVVSGLTPEEFMLVYKFARKHHITLTNLI
TEETTHVVMKTDAEFVCERTLKYFLGIAGGKWVVSYFWVTQSI
KERKMLNEHDFEVRGDV
VNGRNHQGPKRARESQDRKIFRGLEICCYGPFTNMPTDQLEWMVQLCGASVVKELSSFTL
GTGVHPIVVVQPDAWTEDNGFHAIGQMCEAPVVTREWVLDSV
ALYQCQELDTYLIPQIPH
SHY
Sequence length 1863
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Platinum drug resistance
Homologous recombination
Fanconi anemia pathway
Ubiquitin mediated proteolysis
PI3K-Akt signaling pathway
MicroRNAs in cancer
Breast cancer
  SUMOylation of DNA damage response and repair proteins
HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Metalloprotease DUBs
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Resolution of D-loop Structures through Holliday Junction Intermediates
Nonhomologous End-Joining (NHEJ)
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
TP53 Regulates Transcription of DNA Repair Genes
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint
Transcriptional Regulation by E2F6
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
87
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormality of the ovary Pathogenic rs80357609 RCV001564012
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
bilateral breast cancer Pathogenic rs80357888 RCV001004827
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BRCA1-related cancer predisposition Likely pathogenic; Pathogenic rs80357474, rs273901767, rs80357587, rs80358003, rs80358008, rs80358074, rs786203319, rs869320780, rs80356957, rs876660071, rs876658626, rs876660282, rs80357276, rs876660096, rs879254224
View all (92 more)
RCV005628798
RCV005415405
RCV004804102
RCV005415410
RCV004804104
View all (105 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BRCA1-related disorder Pathogenic; Likely pathogenic rs273899692, rs730882164, rs876659327, rs753524038, rs483353078, rs397508874, rs80357914, rs62625308, rs80357868, rs41293455, rs80357906, rs80357382, rs41293463, rs397509091, rs80357888
View all (36 more)
RCV004554701
RCV004730891
RCV005250040
RCV004730917
RCV004554759
View all (46 more)
★★★★★
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
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast ductal adenocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST IMPLANT-ASSOCIATED ANAPLASTIC LARGE CELL LYMPHOMA Orphanet
★★☆☆☆
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
Acute Coronary Syndrome Coronary Syndrome BEFREE 28246237
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 12680164
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 25431969
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia GENOMICS_ENGLAND_DG 28297620
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 21666281, 27295426
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 10882335, 12925308, 14647419, 15073127, 15750629, 15809747, 22269178, 25884701, 9726814
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17289874, 18278587, 19064968
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 17289874, 21118151, 21706479, 27655641, 27771433
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 10667595, 18762988, 19064968, 21934105, 21989927, 25304989, 28183138, 29223478, 29961768, 30636051, 31612916, 8950667
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma HPO_DG
★☆☆☆☆
Found in Text Mining only