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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
BRCA1 672 breast cancer 1, early onset  17RNF53, BRCC1, PPP1R53 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
23496813   2013Cell line : -

Source : Chinese patients

Sample Type : -

No. of Sample : 120

Stage : -

real time RT-PCRDown-regulation-ERCC1 and BRCA1 mRNA expression levels correlate inversely to CRC metastasis.Down-expression of ERCC1 and BRCA1 was significantly associated with LNM (P < 0.001), advanced TNM stage (P < 0.001), and decreased 5-year overall survival rate

24292448   2014Cell line : -

Source : Canada, United States, Europe

Sample Type : CRC tumor and population based case control study

No. of Sample : 21 CRC cases, 7015 women with a BRCA mutatant CRC case

Stage : -

Meta analysisMutation-The risk of colorectal cancer is increased in female carriers of BRCA1 mutations below the age of 50 years but not in women with BRCA2 mutations or in older women.

25195694   2015Cell line : -

Source : -

Sample Type : -

No. of Sample : -

Stage : -

-Mutation-A recent prospective study of 7015 women with a BRCA1 or BRCA2 mutation identified significant fivefold increased risk of colorectal cancer among BRCA1 mutation carriers younger than 50 years


Gene Details



NC_000017.10 (41196312..41277500, complement)

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Gene Type protein coding
Gene Family RING-type (C3HC4) zinc fingers, "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"
Description This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009]  
Chromosome 17
Location 17q21.31
Start 41196312  
End 41277500  
Strand -  
Gene Sequence

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Length 81189  
OMIM ID 113705   
HGNC ID HGNC:1100   
Unigene ID Hs.194143   
Ensembl ID ENSG00000012048   
PharmGKB ID PA25411   

mRNA Information


mRNA ID NM_007294.3
Exon join(1..213,1369..1467,9705..9758,18951..19028, 20528..20616,21223..21362,25604..25709,28195..28240, 29562..29638,30624..34049,34452..34540,42909..43080, 48870..48996,50963..51153,54246..54556,57789..57876, 61533..61610,62111..62151,68349..68432,74367..74421, 76290..76363,77781..77841,79682..81189)  
mRNA Sequence

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Length 7224  



CDS Information


   
Location233..5824
CDS Sequence

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CCDS ID CCDS11453.1



Protein Information


      
Protein IDNP_009225.1
Protein Namebreast cancer 1, early onset
Molecular Wt. (Da)207591
Protein Sequence

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Length 1863  
Uniprot IDP20585
Ensembl Protein ID ENSP00000265081  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation428
TPhosphorylation1394
SPhosphorylation1525
SPhosphorylation468
SPhosphorylation1531
SPhosphorylation430
SPhosphorylation468
SPhosphorylation353
SPhosphorylation1497
SPhosphorylation1497
SPhosphorylation1143
SPhosphorylation1450
SPhosphorylation393
SPhosphorylation1456
SPhosphorylation355
SPhosphorylation393
TPhosphorylation509
TPhosphorylation509
TPhosphorylation509
TPhosphorylation462
TPhosphorylation509
TPhosphorylation509
TPhosphorylation468
DProteolytic Cleavage1155
DProteolytic Cleavage1155
DProteolytic Cleavage1155
DProteolytic Cleavage1108
DProteolytic Cleavage1155
DProteolytic Cleavage1114
SPhosphorylation988
SPhosphorylation988
SPhosphorylation988
SPhosphorylation941
SPhosphorylation988
SPhosphorylation947
SPhosphorylation243
SPhosphorylation279
SPhosphorylation313
SPhosphorylation380
SPhosphorylation398
SPhosphorylation1189
SPhosphorylation1330
SPhosphorylation1387
SPhosphorylation1423
SPhosphorylation1457
SPhosphorylation1466
SPhosphorylation1524
SPhosphorylation1542
SPhosphorylation1189
SPhosphorylation1330
SPhosphorylation1423
SPhosphorylation1457
SPhosphorylation1466
SPhosphorylation1524
SPhosphorylation1143
SPhosphorylation1189
SPhosphorylation1330
SPhosphorylation1423
TPhosphorylation1394
SPhosphorylation1387
SPhosphorylation1283
SPhosphorylation1340
SPhosphorylation1376
SPhosphorylation1410
SPhosphorylation1477
SPhosphorylation1495
SPhosphorylation1142
SPhosphorylation284
SPhosphorylation320
SPhosphorylation353
SPhosphorylation420
SPhosphorylation438
SPhosphorylation284
SPhosphorylation320
SPhosphorylation1189
SPhosphorylation1330
SPhosphorylation1387
SPhosphorylation1423
SPhosphorylation1148
SPhosphorylation1289
SPhosphorylation1346
SPhosphorylation1382
SPhosphorylation1416
SPhosphorylation1483
SPhosphorylation1501
SPhosphorylation245
SPhosphorylation281
SPhosphorylation315
SPhosphorylation382
SPhosphorylation400
SPhosphorylation284
SPhosphorylation320
SPhosphorylation353
SPhosphorylation420
SPhosphorylation438
SPhosphorylation308
TPhosphorylation967
SPhosphorylation1423
SPhosphorylation1280
SPhosphorylation1457
SPhosphorylation1143
SPhosphorylation1280
SPhosphorylation1572
SPhosphorylation308
SPhosphorylation1387
SPhosphorylation1457
SPhosphorylation1423
SPhosphorylation1102
SPhosphorylation1143
SPhosphorylation1096
SPhosphorylation1280
SPhosphorylation1280
SPhosphorylation1233
SPhosphorylation1239
SPhosphorylation1423
SPhosphorylation320
SPhosphorylation1423
SPhosphorylation279
SPhosphorylation1376
SPhosphorylation320
SPhosphorylation1382
SPhosphorylation281
SPhosphorylation313
SPhosphorylation1457
SPhosphorylation1457
SPhosphorylation1410
SPhosphorylation353
SPhosphorylation1416
SPhosphorylation315
SPhosphorylation353
TPhosphorylation250
TPhosphorylation1394
TPhosphorylation1347
TPhosphorylation291
TPhosphorylation291
TPhosphorylation1394
TPhosphorylation1353
TPhosphorylation252
TPhosphorylation291
SPhosphorylation1524
SPhosphorylation1524
SPhosphorylation1524
SPhosphorylation1524
SPhosphorylation1387
SPhosphorylation1387
SPhosphorylation322;-
SPhosphorylation1466;-
SPhosphorylation1419;-
SPhosphorylation362;-
SPhosphorylation1457;-
SPhosphorylation1466;-
SPhosphorylation1425;-
SPhosphorylation324;-
SPhosphorylation1245;-
SPhosphorylation1239;-
SPhosphorylation1245;-
SPhosphorylation1239;-
SPhosphorylation1245;-
SPhosphorylation1239;-
SPhosphorylation1198;-
SPhosphorylation1192;-
SPhosphorylation1245;-
SPhosphorylation1239;-
SPhosphorylation1245;-
SPhosphorylation1239;-
SPhosphorylation1204;-
SPhosphorylation1198;-
SPhosphorylation1336;-
SPhosphorylation1342;-
SPhosphorylation1336;-
SPhosphorylation1342;-
SPhosphorylation1336;-
SPhosphorylation1342;-
SPhosphorylation1289;-
SPhosphorylation1295;-
SPhosphorylation1336;-
SPhosphorylation1342;-
SPhosphorylation1336;-
SPhosphorylation1330;-
SPhosphorylation1342;-
SPhosphorylation1301;-
SPhosphorylation1295;-
TPhosphorylation1720;-
TPhosphorylation1700;-
TPhosphorylation576;-
TPhosphorylation556;-
TPhosphorylation1720;-
TPhosphorylation1700;-
TPhosphorylation1720;-
TPhosphorylation1700;-
TPhosphorylation1673;-
TPhosphorylation1653;-
TPhosphorylation616;-
TPhosphorylation596;-
TPhosphorylation616;-
TPhosphorylation596;-
TPhosphorylation1659;-
TPhosphorylation1679;-
TPhosphorylation578;-
TPhosphorylation558;-
TPhosphorylation616;-
TPhosphorylation596;-
SPhosphorylation1497;-
SPhosphorylation1499;-
SPhosphorylation355;-
SPhosphorylation1499;-
SPhosphorylation1499;-
SPhosphorylation1452;-
SPhosphorylation395;-
SPhosphorylation1458;-
SPhosphorylation357;-
SPhosphorylation395;-
SPhosphorylation1211;-
SPhosphorylation1212;-
SPhosphorylation1211;-
SPhosphorylation1212;-
SPhosphorylation1211;-
SPhosphorylation1212;-
SPhosphorylation1164;-
SPhosphorylation1165;-
SPhosphorylation1211;-
SPhosphorylation1212;-
SPhosphorylation1211;-
SPhosphorylation1212;-
SPhosphorylation1170;-
SPhosphorylation1171;-
SPhosphorylation1217;-
SPhosphorylation1218;-
SPhosphorylation1217;-
SPhosphorylation1218;-
SPhosphorylation1217;-
SPhosphorylation1218;-
SPhosphorylation1170;-
SPhosphorylation1171;-
SPhosphorylation1217;-
SPhosphorylation1218;-
SPhosphorylation1217;-
SPhosphorylation1218;-
SPhosphorylation1176;-
SPhosphorylation1177;-
MMethylation1
SPhosphorylation395
SPhosphorylation398
SPhosphorylation395
SPhosphorylation398
SPhosphorylation395
SPhosphorylation398
SPhosphorylation348
SPhosphorylation351
SPhosphorylation395
SPhosphorylation398
SPhosphorylation395
SPhosphorylation398
SPhosphorylation354
SPhosphorylation357
SPhosphorylation403
SPhosphorylation403
SPhosphorylation403
SPhosphorylation356
SPhosphorylation403
SPhosphorylation403
SPhosphorylation362
SPhosphorylation405
SPhosphorylation405
SPhosphorylation405
SPhosphorylation358
SPhosphorylation405
SPhosphorylation405
SPhosphorylation364
SPhosphorylation753
SPhosphorylation753
SPhosphorylation753
SPhosphorylation706
SPhosphorylation753
SPhosphorylation753
SPhosphorylation712
SPhosphorylation1187
SPhosphorylation1191
SPhosphorylation1187
SPhosphorylation1191
SPhosphorylation1187
SPhosphorylation1191
SPhosphorylation1140
SPhosphorylation1144
SPhosphorylation1187
SPhosphorylation1191
SPhosphorylation1187
SPhosphorylation1189
SPhosphorylation1191
SPhosphorylation1146
SPhosphorylation1150
SPhosphorylation1328
SPhosphorylation1328
SPhosphorylation1328
SPhosphorylation1281
SPhosphorylation1328
SPhosphorylation1328
SPhosphorylation1287
SPhosphorylation1460
SPhosphorylation316
SPhosphorylation1460
SPhosphorylation1460
SPhosphorylation1413
SPhosphorylation356
SPhosphorylation356
SPhosphorylation1481
SPhosphorylation1460
SPhosphorylation1419
SPhosphorylation318
SPhosphorylation356
NGlycosylation909
NGlycosylation913
NGlycosylation916
NGlycosylation909
NGlycosylation913
NGlycosylation916
NGlycosylation909
NGlycosylation913
NGlycosylation916
NGlycosylation862
NGlycosylation866
NGlycosylation869
NGlycosylation909
NGlycosylation913
NGlycosylation916
NGlycosylation909
NGlycosylation913
NGlycosylation916
NGlycosylation868
NGlycosylation872
NGlycosylation875
SPhosphorylation114
SPhosphorylation114
SPhosphorylation114
SPhosphorylation114
SPhosphorylation67
SPhosphorylation114
SPhosphorylation114
SPhosphorylation114
SPhosphorylation114
SPhosphorylation114
SPhosphorylation114
SPhosphorylation114
SPhosphorylation1007
SPhosphorylation1007
SPhosphorylation1007
SPhosphorylation960
SPhosphorylation1007
SPhosphorylation1007
SPhosphorylation966
SPhosphorylation1009
SPhosphorylation1009
SPhosphorylation1009
SPhosphorylation962
SPhosphorylation1009
SPhosphorylation1009
SPhosphorylation968
SPhosphorylation694
SPhosphorylation694
SPhosphorylation694
SPhosphorylation647
SPhosphorylation694
SPhosphorylation694
SPhosphorylation653
SPhosphorylation423
SPhosphorylation426
SPhosphorylation423
SPhosphorylation426
SPhosphorylation423
SPhosphorylation426
SPhosphorylation376
SPhosphorylation379
SPhosphorylation423
SPhosphorylation426
SPhosphorylation423
SPhosphorylation426
SPhosphorylation382
SPhosphorylation385
SPhosphorylation434
SPhosphorylation434
SPhosphorylation434
SPhosphorylation387
SPhosphorylation434
SPhosphorylation434
SPhosphorylation393
SPhosphorylation1164
SPhosphorylation1164
SPhosphorylation1164
SPhosphorylation1117
SPhosphorylation1164
SPhosphorylation1164
SPhosphorylation1123
TPhosphorylation1196
TPhosphorylation1196
TPhosphorylation1196
TPhosphorylation1149
TPhosphorylation1196
TPhosphorylation1196
TPhosphorylation1155
SPhosphorylation1286
SPhosphorylation1286
SPhosphorylation1286
SPhosphorylation1239
SPhosphorylation1286
SPhosphorylation1286
SPhosphorylation1245
SPhosphorylation420
SPhosphorylation1545
SPhosphorylation1577
SPhosphorylation433
SPhosphorylation1577
SPhosphorylation1577
SPhosphorylation1530
SPhosphorylation473
SPhosphorylation473
SPhosphorylation1598
SPhosphorylation1536
SPhosphorylation435
SPhosphorylation473
SPhosphorylation1542
SPhosphorylation1542
SPhosphorylation438
SPhosphorylation1563
YPhosphorylation1202
YPhosphorylation1202
YPhosphorylation1202
YPhosphorylation1155
YPhosphorylation1202
YPhosphorylation1202
YPhosphorylation1161

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                                                                                                                                                                                                                                                                                                                                                                                                                     
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
25ABL11809NP_009297.2in vitro;in vivo12024016   
1022CDK715993NP_001790.1in vitro15282296   
2274FHL24026NP_001441.4in vitro;in vivo14550570   
3428IFI16969NP_005522.2in vivo14654789   
4087SMAD23221NP_005892.1in vitro15735739   
4088SMAD34380NP_005893.1in vitro;in vivo15735739   
4089SMAD42995NP_005350.1in vitro15735739   
4215MAP3K33965NP_976226.1in vivo;yeast 2-hybrid15205325   
4331MNAT14042NP_002422.1in vitro15282296   
5451POU2F11250NP_002688.2in vitro11777930   
5499PPP1CA15942NP_001008709.1in vitro;in vivo12438214   
5660PSAP1460NP_001035930.1in vitro;in vivo11313879   
5981RFC124NP_002904.3in vivo10783165   
6774STAT326NP_644805.1in vivo11163768   
7153TOP2A536NP_001058.2in vivo15965487   
7277TUBA4A1851NP_005991.1in vivo12353262   
7314UBB6771NP_061828.1in vitro11320250   
7528YY12482NP_003394.1in vitro11777930   
8295TRRAP4310NP_003487.1in vitro;in vivo16260778   
8328GFI1B5088NP_004179.3yeast 2-hybrid16713569   
8900CCNA14946NP_003905.1in vitro103   735   349   244   350   
9555H2AFY13624NP_613258.2in vivo12419249   
23633KPNA69465NP_036448.1yeast 2-hybrid8955125   
26747NUFIP15073NP_036477.2in vitro;in vivo;yeast 2-hybrid15107825   
63967CLSPN9257NP_071394.2in vitro;in vivo15096610   
79184BRCC36465NP_077308.1in vitro14636569   
203068TUBB1852NP_001060.1in vivo12353262   


Pathway Information


                        
Pathway Name Pathway ID
Fanconi anemia pathway hsa03460
MicroRNAs in cancer hsa05206
PI3K-Akt signaling pathway hsa04151
Ubiquitin mediated proteolysis hsa04120


Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd0016223-68  RING
cl1723823-68  RING superfamily
cd000271650-1724  BRCT
cl000381650-1724  BRCT superfamily
cd000271763-1842  BRCT
cl000381763-1842  BRCT superfamily
pfam04873648-978  EIN3
cl04813648-978  EIN3 superfamily
pfam12820344-507  BRCT_assoc
cl15108344-507  BRCT_assoc superfamily
smart002921758-1842  BRCT
pfam0009724-64  zf-C3HC4
smart0018424-64  RING
pfam1392324-64  zf-C3HC4_2
pfam1363923-65  zf-RING_2
pfam005331650-1723  BRCT
pfam005331759-1842  BRCT
pfam1522724-64  zf-C3HC4_4
pfam1463423-65  zf-RING_5
pfam1392023-71  zf-C3HC4_3
pfam1344524-62  zf-RING_UBOX
pfam1483518-64  zf-RING_6
pfam0289122-64  zf-MIZ
pfam1178922-62  zf-Nse
smart002921662-1723  BRCT
PLN0320822-73  PLN03208
COG557423-65  PEX10
TIGR0059922-84  rad18
COG543218-136  RAD18
pfam1267824-65  zf-rbx1


Ontology Information


   
HPRD ID4509
Molecular ClassTranscription regulatory protein
Molecular FunctionRNA binding (GO:0003723)
Biological ProcessRegulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism (GO:0019219)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO