full name
BRCA1, DNA repair associated

synonyms
BRCAI, BRCC1, BROVCA1, IRIS, PNCA4, PPP1R53, PSCP, RNF53, BRCA1, ENSG00000012048

HGNC
HGNC:1100

Entrez Gene
Gene:672

ENSEMBL
ENSG00000012048

location
chr: 17
start: 41196312
stop: 41277500
strand: -

OMIM
OMIM:113705: BRCA1
OMIM:617883: Fanconi anemia, complementation group S
OMIM:604370: {Breast-ovarian cancer, familial, 1}
OMIM:614320: {Pancreatic cancer, susceptibility to, 4}

transcripts
NM_007294.3
NM_007300.3
NM_007297.3
NM_007299.3
NR_027676.1
NM_007298.3

pathways
ATF-2 transcription factor network [NCBI:138006] [Pathway Interaction Database:atf2_pathway] [PUBMED:12048217] [PUBMED:19255142] [PUBMED:11739785] [PUBMED:7624151] [PUBMED:19822663] [PUBMED:17590016] [PUBMED:7535770] [PUBMED:18396163] [PUBMED:20507983] [PUBMED:19422799] [PUBMED:7824938] [PUBMED:11713276] [PUBMED:17258390] [PUBMED:10454570] [PUBMED:20067572] [PUBMED:10364225] [PUBMED:12121977] [PUBMED:12110590] [PUBMED:19176525] [PUBMED:16511568] [PUBMED:17079470] [PUBMED:17267404] [PUBMED:10777595] [PUBMED:2516827] [PUBMED:18397884] [PUBMED:10207054] [PUBMED:9436983] [PUBMED:7737130] [PUBMED:10982836] [PUBMED:9006914] [PUBMED:19592489] [PUBMED:17158955] [PUBMED:17189429] [PUBMED:11566021] [PUBMED:17626013] [PUBMED:17036053] [PUBMED:20702711] [PUBMED:10085140] [PUBMED:20032511] [PUBMED:17219413] [PUBMED:17337306] [PUBMED:9511728] [PUBMED:12196528] [PUBMED:19304750] [PUBMED:17700520] [PUBMED:16373341] [PUBMED:12833146] [PUBMED:1827203] [PUBMED:17699753] [PUBMED:9990041] [PUBMED:15304344] [PUBMED:11231009] [PUBMED:18385943] [PUBMED:18387947] [PUBMED:18638549] [PUBMED:15767263] [PUBMED:10777545] [PUBMED:14630918] [PUBMED:18802055] [PUBMED:10037779] [PUBMED:12052888] [PUBMED:8943243] [PUBMED:20181929] [PUBMED:19647037] [PUBMED:8382609] [PUBMED:16405968] [PUBMED:1641004]
Aurora A signaling [NCBI:137925] [Pathway Interaction Database:aurora_a_pathway] [PUBMED:17308110] [PUBMED:16894566] [PUBMED:16631581] [PUBMED:17229885] [PUBMED:15128871] [PUBMED:14990569] [PUBMED:12177045] [PUBMED:14580337] [PUBMED:14724178] [PUBMED:17545617] [PUBMED:15687499] [PUBMED:11163242] [PUBMED:14603251] [PUBMED:17060449] [PUBMED:12208850] [PUBMED:12815066] [PUBMED:17125467] [PUBMED:13678582] [PUBMED:15987997] [PUBMED:15966895] [PUBMED:11976319] [PUBMED:14702041] [PUBMED:16246726] [PUBMED:17452972] [PUBMED:12082625] [PUBMED:11039908] [PUBMED:14667408] [PUBMED:12577065] [PUBMED:14600264] [PUBMED:11756469] [PUBMED:16772293] [PUBMED:12023018] [PUBMED:15469940] [PUBMED:16082213]
BARD1 signaling events [NCBI:137959] [Pathway Interaction Database:bard1pathway] [PUBMED:12086603] [PUBMED:15159397] [PUBMED:12732733] [PUBMED:14988723] [PUBMED:14647430] [PUBMED:11927591] [PUBMED:12183411] [PUBMED:8944023] [PUBMED:11278247] [PUBMED:15632137] [PUBMED:9811458] [PUBMED:12154023] [PUBMED:15905410] [PUBMED:12612651] [PUBMED:15665273] [PUBMED:12354784] [PUBMED:10910365] [PUBMED:16391231] [PUBMED:12431996] [PUBMED:15782130] [PUBMED:15184379] [PUBMED:11301010] [PUBMED:9267023] [PUBMED:15886201] [PUBMED:11943588] [PUBMED:10477523] [PUBMED:9738006] [PUBMED:11239454] [PUBMED:10764811]
Breast cancer [NCBI:1435207] [KEGG:hsa05224] [PUBMED:24649067] [PUBMED:26040571] [PUBMED:11879567] [PUBMED:22722193] [PUBMED:26028978] [PUBMED:25013431] [PUBMED:11737884] [PUBMED:23702927] [PUBMED:21076461] [PUBMED:21898546] [PUBMED:27390604] [PUBMED:24291072] [PUBMED:26968398] [PUBMED:20087430] [PUBMED:23000897] [PUBMED:25544707] [PUBMED:24596345] [PUBMED:23988612] [PUBMED:24111892] [PUBMED:25907219] [PUBMED:15343273] [PUBMED:21965336] [PUBMED:23881035] [PUBMED:23196196] [PUBMED:22178455] [PUBMED:20436504] [PUBMED:19088017] [PUBMED:16113099] [PUBMED:20971825]
Cell Cycle [NCBI:1269741] [REACTOME:R-HSA-1640170]
Cell Cycle Checkpoints [NCBI:1269742] [REACTOME:R-HSA-69620]
Coregulation of Androgen receptor activity [NCBI:138085] [Pathway Interaction Database:ar_pathway] [PUBMED:16724108] [PUBMED:16027218] [PUBMED:11818503] [PUBMED:17277772] [PUBMED:11719514] [PUBMED:15833840] [PUBMED:16384856] [PUBMED:14645241] [PUBMED:12218053] [PUBMED:11016951] [PUBMED:12621049] [PUBMED:15784617] [PUBMED:16446156] [PUBMED:17110431] [PUBMED:16254014] [PUBMED:17698582] [PUBMED:15131260] [PUBMED:16705743] [PUBMED:11682623] [PUBMED:17192406] [PUBMED:15882980] [PUBMED:10934038] [PUBMED:12165860] [PUBMED:11856738] [PUBMED:16720717] [PUBMED:9710597] [PUBMED:14609956] [PUBMED:17170703] [PUBMED:10383460] [PUBMED:14576337] [PUBMED:12941811] [PUBMED:14612401] [PUBMED:17975004] [PUBMED:12799378] [PUBMED:15790678] [PUBMED:8643607] [PUBMED:11792840] [PUBMED:16603237] [PUBMED:16079795] [PUBMED:16951154] [PUBMED:15166229] [PUBMED:17142810] [PUBMED:12361945] [PUBMED:11439351] [PUBMED:15640154] [PUBMED:17909037] [PUBMED:15539430] [PUBMED:11792709] [PUBMED:11931767] [PUBMED:10344732] [PUBMED:10428808]
DNA Double Strand Break Response [NCBI:1309096] [REACTOME:R-HSA-5693606] [PUBMED:20965415]
DNA Double-Strand Break Repair [NCBI:1309095] [REACTOME:R-HSA-5693532] [PUBMED:12897142] [PUBMED:20965415]
DNA Repair [NCBI:1270350] [REACTOME:R-HSA-73894] [PUBMED:10583946] [PUBMED:23175119]
Deubiquitination [NCBI:1427860] [REACTOME:R-HSA-5688426] [PUBMED:19243136] [PUBMED:20074029] [PUBMED:15571815] [PUBMED:20418328] [PUBMED:16325574] [PUBMED:12944365] [PUBMED:23845989] [PUBMED:22201797]
E2F transcription factor network [NCBI:137934] [Pathway Interaction Database:e2f_pathway] [PUBMED:15175242] [PUBMED:11034215] [PUBMED:8832394] [PUBMED:7479977] [PUBMED:12077144] [PUBMED:11274364] [PUBMED:8618861] [PUBMED:11857079] [PUBMED:7958837] [PUBMED:15014447] [PUBMED:9774682] [PUBMED:9704927] [PUBMED:9271400] [PUBMED:8334989] [PUBMED:16288221] [PUBMED:10766737] [PUBMED:8657141] [PUBMED:8552092] [PUBMED:11101847] [PUBMED:12757710] [PUBMED:17704056] [PUBMED:7705662] [PUBMED:15897886] [PUBMED:9192872] [PUBMED:9778043] [PUBMED:12766778] [PUBMED:15510213] [PUBMED:11418595] [PUBMED:10454584] [PUBMED:10783242] [PUBMED:11904439] [PUBMED:16179649] [PUBMED:7791762] [PUBMED:11719808] [PUBMED:12389032] [PUBMED:8264596] [PUBMED:19491197] [PUBMED:15713665] [PUBMED:16357170] [PUBMED:9689056] [PUBMED:12748276] [PUBMED:2524830] [PUBMED:14633988] [PUBMED:12697828] [PUBMED:12101096] [PUBMED:11799067] [PUBMED:15133492] [PUBMED:16892051] [PUBMED:8943353] [PUBMED:9724731] [PUBMED:10030670] [PUBMED:11459832] [PUBMED:8114719] [PUBMED:9520412] [PUBMED:18348985] [PUBMED:9020173] [PUBMED:11389439] [PUBMED:16211008] [PUBMED:12411495] [PUBMED:7958836] [PUBMED:12909625] [PUBMED:15306814] [PUBMED:10688648] [PUBMED:12611887] [PUBMED:9191053] [PUBMED:10373518] [PUBMED:10187822]
FOXA1 transcription factor network [NCBI:137979] [Pathway Interaction Database:hnf3apathway] [PUBMED:9427758] [PUBMED:16087863] [PUBMED:12750453] [PUBMED:12441652] [PUBMED:11763995] [PUBMED:8441395] [PUBMED:8164696] [PUBMED:2786140] [PUBMED:8071346] [PUBMED:8598458] [PUBMED:16331276] [PUBMED:16214823] [PUBMED:10049364] [PUBMED:15987773] [PUBMED:10073575] [PUBMED:8058060] [PUBMED:16980581] [PUBMED:9685261] [PUBMED:16009131]
Fanconi anemia pathway [NCBI:377262] [KEGG:hsa03460] [PUBMED:19805513] [PUBMED:18518821] [PUBMED:18047734] [PUBMED:20039786] [PUBMED:21701511] [PUBMED:20064461]
G2/M Checkpoints [NCBI:1269753] [REACTOME:R-HSA-69481]
G2/M DNA damage checkpoint [NCBI:1269754] [REACTOME:R-HSA-69473]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Generic Transcription Pathway [NCBI:1269650] [REACTOME:R-HSA-212436] [PUBMED:15175151] [PUBMED:14744435] [PUBMED:15680972] [PUBMED:11395415] [PUBMED:15896744] [PUBMED:10235266] [PUBMED:14986688] [PUBMED:12023297] [PUBMED:15680973] [PUBMED:16751179] [PUBMED:11861166] [PUBMED:16429119] [PUBMED:16719718] [PUBMED:16921404] [PUBMED:15690163]
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) [NCBI:1309100] [REACTOME:R-HSA-5693567] [PUBMED:20965415]
HDR through Homologous Recombination (HRR) [NCBI:1309102] [REACTOME:R-HSA-5685942] [PUBMED:20965415]
HDR through Single Strand Annealing (SSA) [NCBI:1309108] [REACTOME:R-HSA-5685938] [PUBMED:12791985] [PUBMED:17962301] [PUBMED:25122754] [PUBMED:21804533] [PUBMED:12139939] [PUBMED:10212258] [PUBMED:10921897] [PUBMED:19357644] [PUBMED:21240188] [PUBMED:21325134] [PUBMED:9837724] [PUBMED:15485900] [PUBMED:17928296] [PUBMED:18539610] [PUBMED:12370410] [PUBMED:17965729] [PUBMED:22977173] [PUBMED:14734547] [PUBMED:21052091]
Homologous DNA Pairing and Strand Exchange [NCBI:1309103] [REACTOME:R-HSA-5693579] [PUBMED:9880493] [PUBMED:17996710] [PUBMED:12912992] [PUBMED:19369211] [PUBMED:19268590] [PUBMED:17996711] [PUBMED:24141787] [PUBMED:20871615] [PUBMED:20965415] [PUBMED:20871616] [PUBMED:23149936]
Homologous recombination [NCBI:83046] [KEGG:hsa03440] [PUBMED:12589470] [PUBMED:15902993] [PUBMED:16935872] [PUBMED:17395553] [PUBMED:18086882] [PUBMED:17571595] [PUBMED:18430459]
Homology Directed Repair [NCBI:1309099] [REACTOME:R-HSA-5693538] [PUBMED:11242102] [PUBMED:20965415] [PUBMED:11376695] [PUBMED:12427531]
Meiosis [NCBI:1269865] [REACTOME:R-HSA-1500620] [PUBMED:20051984] [PUBMED:20364103] [PUBMED:16543383] [PUBMED:18948708]
Meiotic recombination [NCBI:1269866] [REACTOME:R-HSA-912446] [PUBMED:16543383] [PUBMED:20364103] [PUBMED:20051984]
Meiotic synapsis [NCBI:1269867] [REACTOME:R-HSA-1221632] [PUBMED:20364103] [PUBMED:18948708]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
Metalloprotease DUBs [NCBI:1427865] [REACTOME:R-HSA-5689901] [PUBMED:14737182]
MicroRNAs in cancer [NCBI:852705] [KEGG:hsa05206] [PUBMED:23075324] [PUBMED:21742789] [PUBMED:22351564] [PUBMED:18817506] [PUBMED:22345301] [PUBMED:21402473] [PUBMED:22926415] [PUBMED:23165235] [PUBMED:19630570] [PUBMED:21565290] [PUBMED:23091478] [PUBMED:23462054] [PUBMED:23316212] [PUBMED:19773200] [PUBMED:22035854] [PUBMED:20221895] [PUBMED:20345848] [PUBMED:22580099] [PUBMED:20128019]
Nonhomologous End-Joining (NHEJ) [NCBI:1309110] [REACTOME:R-HSA-5693571] [PUBMED:10802669] [PUBMED:21293379] [PUBMED:16914548] [PUBMED:12509254] [PUBMED:12607005] [PUBMED:17470781] [PUBMED:12364621] [PUBMED:11493912] [PUBMED:23333306] [PUBMED:22179609] [PUBMED:25512557] [PUBMED:22529269] [PUBMED:23505375] [PUBMED:15574327] [PUBMED:12077346] [PUBMED:11030616] [PUBMED:14561766] [PUBMED:8422676] [PUBMED:23727112] [PUBMED:17525340] [PUBMED:23306437] [PUBMED:10757784] [PUBMED:16439205] [PUBMED:10959836] [PUBMED:15790808] [PUBMED:16377563] [PUBMED:11955432] [PUBMED:22373579] [PUBMED:19001859] [PUBMED:12023295] [PUBMED:15451442] [PUBMED:16093244] [PUBMED:10572166]
PI3K-Akt signaling pathway [NCBI:692234] [KEGG:hsa04151] [PUBMED:12048182] [PUBMED:11357143] [PUBMED:21440011] [PUBMED:15209374] [PUBMED:12669022] [PUBMED:18842113] [PUBMED:16847462] [PUBMED:12660731] [PUBMED:17360849] [PUBMED:9838078] [PUBMED:15505410] [PUBMED:16248975] [PUBMED:12531180] [PUBMED:21779440] [PUBMED:16187290] [PUBMED:15784165] [PUBMED:21620960]
Platinum drug resistance [NCBI:1404797] [KEGG:hsa01524] [PUBMED:24074238] [PUBMED:26867799] [PUBMED:14609433] [PUBMED:26184483] [PUBMED:24874729] [PUBMED:15607932] [PUBMED:25546083] [PUBMED:25058905] [PUBMED:19190080] [PUBMED:14576837] [PUBMED:20811617] [PUBMED:21892204] [PUBMED:20647037] [PUBMED:17336087] [PUBMED:26886018] [PUBMED:23442359] [PUBMED:17625587]
Post-translational protein modification [NCBI:1268701] [REACTOME:R-HSA-597592]
Presynaptic phase of homologous DNA pairing and strand exchange [NCBI:1309104] [REACTOME:R-HSA-5693616] [PUBMED:20729858] [PUBMED:15665856] [PUBMED:20729832] [PUBMED:23149936] [PUBMED:23810717] [PUBMED:15703751] [PUBMED:18317453] [PUBMED:20729859] [PUBMED:11751635]
Processing of DNA double-strand break ends [NCBI:1309101] [REACTOME:R-HSA-5693607] [PUBMED:25122754] [PUBMED:18171670] [PUBMED:20965415] [PUBMED:22231403] [PUBMED:25558984] [PUBMED:19357644] [PUBMED:21325134] [PUBMED:21240188] [PUBMED:21659603] [PUBMED:23468639] [PUBMED:25659039]
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks [NCBI:1309098] [REACTOME:R-HSA-5693565] [PUBMED:18483401] [PUBMED:21293379] [PUBMED:10866324] [PUBMED:9488723] [PUBMED:18001825] [PUBMED:18006705] [PUBMED:11571274] [PUBMED:12364621] [PUBMED:22234877] [PUBMED:10802669] [PUBMED:17553757] [PUBMED:10550055] [PUBMED:23333306] [PUBMED:20023648] [PUBMED:18077395] [PUBMED:19203578] [PUBMED:22373579] [PUBMED:19203579] [PUBMED:19234442] [PUBMED:16377563] [PUBMED:15201865] [PUBMED:19092802] [PUBMED:17525340] [PUBMED:22589545] [PUBMED:11025670] [PUBMED:16651405] [PUBMED:19001859] [PUBMED:18001824]
Regulation of TP53 Activity [NCBI:1383076] [REACTOME:R-HSA-5633007] [PUBMED:19450511] [PUBMED:20457558] [PUBMED:23825024] [PUBMED:25641576]
Regulation of TP53 Activity through Phosphorylation [NCBI:1383080] [REACTOME:R-HSA-6804756] [PUBMED:11780126] [PUBMED:21317932] [PUBMED:15866171] [PUBMED:12393879] [PUBMED:11740489] [PUBMED:11447225] [PUBMED:9733515] [PUBMED:12851404] [PUBMED:10884347] [PUBMED:10710310] [PUBMED:11239457] [PUBMED:9925639] [PUBMED:11546806] [PUBMED:11551930] [PUBMED:10570149] [PUBMED:18490454] [PUBMED:17591690] [PUBMED:19965871] [PUBMED:12064478] [PUBMED:10673501] [PUBMED:22611192] [PUBMED:9843217] [PUBMED:15053879] [PUBMED:12914926] [PUBMED:10673500] [PUBMED:17349958] [PUBMED:14702041] [PUBMED:20959462] [PUBMED:10435622] [PUBMED:9733514]
Resolution of D-Loop Structures [NCBI:1309105] [REACTOME:R-HSA-5693537] [PUBMED:12902160] [PUBMED:20965415]
Resolution of D-loop Structures through Holliday Junction Intermediates [NCBI:1309106] [REACTOME:R-HSA-5693568] [PUBMED:24831703] [PUBMED:23509288] [PUBMED:22645308] [PUBMED:14527420] [PUBMED:19596236] [PUBMED:24509834] [PUBMED:14685245] [PUBMED:24076221] [PUBMED:24371268]
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) [NCBI:1309107] [REACTOME:R-HSA-5693554] [PUBMED:16855289] [PUBMED:22593209] [PUBMED:24115439] [PUBMED:20417600] [PUBMED:16648486] [PUBMED:19305001] [PUBMED:18957201]
SUMO E3 ligases SUMOylate target proteins [NCBI:1268743] [REACTOME:R-HSA-3108232] [PUBMED:20674646] [PUBMED:17763827] [PUBMED:19471022] [PUBMED:23746258] [PUBMED:24016193] [PUBMED:23503365] [PUBMED:21252943] [PUBMED:17000644] [PUBMED:24273646] [PUBMED:22811915] [PUBMED:21693764] [PUBMED:23277067] [PUBMED:21102611]
SUMOylation [NCBI:1268738] [REACTOME:R-HSA-2990846] [PUBMED:21102611] [PUBMED:20674646] [PUBMED:23514139] [PUBMED:19923268] [PUBMED:20462400] [PUBMED:17768054]
SUMOylation of DNA damage response and repair proteins [NCBI:1268744] [REACTOME:R-HSA-3108214] [PUBMED:22018829] [PUBMED:24926426] [PUBMED:23122649] [PUBMED:23781231] [PUBMED:23416108] [PUBMED:21486569] [PUBMED:23746258] [PUBMED:21896653] [PUBMED:22357966] [PUBMED:21664912]
TP53 Regulates Transcription of DNA Repair Genes [NCBI:1383075] [REACTOME:R-HSA-6796648] [PUBMED:10984493] [PUBMED:25712099] [PUBMED:22988298] [PUBMED:12771027] [PUBMED:23139867] [PUBMED:11971958] [PUBMED:22012619] [PUBMED:11988847] [PUBMED:9858527] [PUBMED:26773055] [PUBMED:15781865] [PUBMED:11350971] [PUBMED:25429106] [PUBMED:12170774] [PUBMED:20096807] [PUBMED:18187580] [PUBMED:9063748] [PUBMED:24662513]
Transcriptional Regulation by TP53 [NCBI:1269654] [REACTOME:R-HSA-3700989] [PUBMED:26122615] [PUBMED:19410540]
Ubiquitin mediated proteolysis [NCBI:83056] [KEGG:hsa04120] [PUBMED:16405856] [PUBMED:12944364] [PUBMED:16922408] [PUBMED:17588513] [PUBMED:16922367] [PUBMED:16922370] [PUBMED:16816840]
Validated targets of C-MYC transcriptional repression [NCBI:169353] [Pathway Interaction Database:myc_represspathway] [PUBMED:17082179] [PUBMED:11282029] [PUBMED:9869632] [PUBMED:15021909] [PUBMED:16167342] [PUBMED:18056446] [PUBMED:18045875] [PUBMED:1670896] [PUBMED:18393360] [PUBMED:7556187] [PUBMED:11313917] [PUBMED:17471507] [PUBMED:12418961] [PUBMED:9927431] [PUBMED:9924025] [PUBMED:18483244] [PUBMED:14716294] [PUBMED:15506972] [PUBMED:15616584] [PUBMED:12729735] [PUBMED:19219026] [PUBMED:12747840] [PUBMED:2182320] [PUBMED:12545156] [PUBMED:15367674] [PUBMED:11283613] [PUBMED:12384701] [PUBMED:18066065] [PUBMED:18455888] [PUBMED:10920185] [PUBMED:17881732] [PUBMED:20190815] [PUBMED:16352593] [PUBMED:17050536] [PUBMED:11283614] [PUBMED:16391002] [PUBMED:11804592] [PUBMED:7870572] [PUBMED:16940161] [PUBMED:12695333] [PUBMED:17159920] [PUBMED:8972190] [PUBMED:9312026] [PUBMED:17485441] [PUBMED:16288014]