| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 672 |
Name | BRCA1 |
Synonym | BRCAI|BRCC1|BROVCA1|IRIS|PNCA4|PPP1R53|PSCP|RNF53;breast cancer 1, early onset;BRCA1;breast cancer 1, early onset |
Definition | BRCA1/BRCA2-containing complex, subunit 1|RING finger protein 53|breast and ovarian cancer susceptibility protein 1|breast and ovarian cancer sususceptibility protein 1|breast cancer type 1 susceptibility protein|protein phosphatase 1, regulatory subunit |
Position | 17q21 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | FOXA1 transcription factor network;PID Curated;200194 |
Pathway | E2F transcription factor network;PID Curated;200027 |
Pathway | cell cycle: g2/m checkpoint;PID BioCarta;100159 |
Pathway | brca1 dependent ub ligase activity;PID BioCarta;100232 |
Pathway | BARD1 signaling events;PID Curated;200174 |
Pathway | Fanconi Anemia pathway;PID Reactome;500068 |
Pathway | Ubiquitin mediated proteolysis;KEGG PATHWAY;hsa04120 |
Pathway | DNA Repair;Reactome;REACT:216 |
Pathway | role of brca1 brca2 and atr in cancer susceptibility;PID BioCarta;100234 |
Pathway | ATF-2 transcription factor network;PID Curated;200116 |
Pathway | Recruitment of repair and signaling proteins to double-strand breaks;PID Reactome;500044 |
Pathway | Aurora A signaling;PID Curated;200166 |
Pathway | Coregulation of Androgen receptor activity;PID Curated;200038 |
Pathway | Validated targets of C-MYC transcriptional repression;PID Curated;200171 |
Pathway | atm signaling pathway;PID BioCarta;100235 |
Pathway | ATM mediated phosphorylation of repair proteins;PID Reactome;500043 |
Disease | CANCER;GAD |
Disease | endometrial carcinoma;GAD |
Disease | breast cancer, male;GAD |
Disease | Cancer;FunDO |
Disease | tumor progression;GAD |
Disease | Pancreatic cancer, susceptibility to, 4;OMIM |
Disease | Polycystic ovary syndrome;FunDO |
Disease | Alzheimer's disease;FunDO |
Disease | Drug abuse;FunDO |
Disease | Breast cancer;KEGG DISEASE;H00031 |
Disease | Spinal dysraphism;FunDO |
Disease | Ovarian cancer;KEGG DISEASE;H00027 |
Disease | Tic disorder;FunDO |
Disease | Rabies;FunDO |
Disease | Cancers of the breast and female genital organs;KEGG DISEASE |
Disease | Endometriosis;FunDO |
Disease | Cancers;KEGG DISEASE |
Disease | Breast-ovarian cancer, familial, 1;OMIM |
Disease | Abortion;FunDO |
Disease | breast cancer;GAD |
Disease | Skin disease;FunDO |
Disease | ovarian cancer;GAD |
Disease | germline BRCA1 mutation;GAD |
External Links | |
Links to Entrez Gene | 672 |
Links to all GeneRIF Items | 672 |
Links to iHOP | 672 |
Sequence Information | |
Nucleotide Sequence | >672 : length: 5592 atggatttatctgctcttcgcgttgaagaagtacaaaatgtcattaatgctatgcagaaa atcttagagtgtcccatctgtctggagttgatcaaggaacctgtctccacaaagtgtgac cacatattttgcaaattttgcatgctgaaacttctcaaccagaagaaagggccttcacag tgtcctttatgtaagaatgatataaccaaaaggagcctacaagaaagtacgagatttagt caacttgttgaagagctattgaaaatcatttgtgcttttcagcttgacacaggtttggag tatgcaaacagctataattttgcaaaaaaggaaaataactctcctgaacatctaaaagat gaagtttctatcatccaaagtatgggctacagaaaccgtgccaaaagacttctacagagt gaacccgaaaatccttccttgcaggaaaccagtctcagtgtccaactctctaaccttgga actgtgagaactctgaggacaaagcagcggatacaacctcaaaagacgtctgtctacatt gaattgggatctgattcttctgaagataccgttaataaggcaacttattgcagtgtggga gatcaagaattgttacaaatcacccctcaaggaaccagggatgaaatcagtttggattct gcaaaaaaggctgcttgtgaattttctgagacggatgtaacaaatactgaacatcatcaa cccagtaataatgatttgaacaccactgagaagcgtgcagctgagaggcatccagaaaag tatcagggtagttctgtttcaaacttgcatgtggagccatgtggcacaaatactcatgcc agctcattacagcatgagaacagcagtttattactcactaaagacagaatgaatgtagaa aaggctgaattctgtaataaaagcaaacagcctggcttagcaaggagccaacataacaga tgggctggaagtaaggaaacatgtaatgataggcggactcccagcacagaaaaaaaggta gatctgaatgctgatcccctgtgtgagagaaaagaatggaataagcagaaactgccatgc tcagagaatcctagagatactgaagatgttccttggataacactaaatagcagcattcag aaagttaatgagtggttttccagaagtgatgaactgttaggttctgatgactcacatgat ggggagtctgaatcaaatgccaaagtagctgatgtattggacgttctaaatgaggtagat gaatattctggttcttcagagaaaatagacttactggccagtgatcctcatgaggcttta atatgtaaaagtgaaagagttcactccaaatcagtagagagtaatattgaagacaaaata tttgggaaaacctatcggaagaaggcaagcctccccaacttaagccatgtaactgaaaat ctaattataggagcatttgttactgagccacagataatacaagagcgtcccctcacaaat aaattaaagcgtaaaaggagacctacatcaggccttcatcctgaggattttatcaagaaa gcagatttggcagttcaaaagactcctgaaatgataaatcagggaactaaccaaacggag cagaatggtcaagtgatgaatattactaatagtggtcatgagaataaaacaaaaggtgat tctattcagaatgagaaaaatcctaacccaatagaatcactcgaaaaagaatctgctttc aaaacgaaagctgaacctataagcagcagtataagcaatatggaactcgaattaaatatc cacaattcaaaagcacctaaaaagaataggctgaggaggaagtcttctaccaggcatatt catgcgcttgaactagtagtcagtagaaatctaagcccacctaattgtactgaattgcaa attgatagttgttctagcagtgaagagataaagaaaaaaaagtacaaccaaatgccagtc aggcacagcagaaacctacaactcatggaaggtaaagaacctgcaactggagccaagaag agtaacaagccaaatgaacagacaagtaaaagacatgacagcgatactttcccagagctg aagttaacaaatgcacctggttcttttactaagtgttcaaataccagtgaacttaaagaa tttgtcaatcctagccttccaagagaagaaaaagaagagaaactagaaacagttaaagtg tctaataatgctgaagaccccaaagatctcatgttaagtggagaaagggttttgcaaact gaaagatctgtagagagtagcagtatttcattggtacctggtactgattatggcactcag gaaagtatctcgttactggaagttagcactctagggaaggcaaaaacagaaccaaataaa tgtgtgagtcagtgtgcagcatttgaaaaccccaagggactaattcatggttgttccaaa gataatagaaatgacacagaaggctttaagtatccattgggacatgaagttaaccacagt cgggaaacaagcatagaaatggaagaaagtgaacttgatgctcagtatttgcagaataca ttcaaggtttcaaagcgccagtcatttgctccgttttcaaatccaggaaatgcagaagag gaatgtgcaacattctctgcccactctgggtccttaaagaaacaaagtccaaaagtcact tttgaatgtgaacaaaaggaagaaaatcaaggaaagaatgagtctaatatcaagcctgta cagacagttaatatcactgcaggctttcctgtggttggtcagaaagataagccagttgat aatgccaaatgtagtatcaaaggaggctctaggttttgtctatcatctcagttcagaggc aacgaaactggactcattactccaaataaacatggacttttacaaaacccatatcgtata ccaccactttttcccatcaagtcatttgttaaaactaaatgtaagaaaaatctgctagag gaaaactttgaggaacattcaatgtcacctgaaagagaaatgggaaatgagaacattcca agtacagtgagcacaattagccgtaataacattagagaaaatgtttttaaagaagccagc tcaagcaatattaatgaagtaggttccagtactaatgaagtgggctccagtattaatgaa ataggttccagtgatgaaaacattcaagcagaactaggtagaaacagagggccaaaattg aatgctatgcttagattaggggttttgcaacctgaggtctataaacaaagtcttcctgga agtaattgtaagcatcctgaaataaaaaagcaagaatatgaagaagtagttcagactgtt aatacagatttctctccatatctgatttcagataacttagaacagcctatgggaagtagt catgcatctcaggtttgttctgagacacctgatgacctgttagatgatggtgaaataaag gaagatactagttttgctgaaaatgacattaaggaaagttctgctgtttttagcaaaagc gtccagaaaggagagcttagcaggagtcctagccctttcacccatacacatttggctcag ggttaccgaagaggggccaagaaattagagtcctcagaagagaacttatctagtgaggat gaagagcttccctgcttccaacacttgttatttggtaaagtaaacaatataccttctcag tctactaggcatagcaccgttgctaccgagtgtctgtctaagaacacagaggagaattta ttatcattgaagaatagcttaaatgactgcagtaaccaggtaatattggcaaaggcatct caggaacatcaccttagtgaggaaacaaaatgttctgctagcttgttttcttcacagtgc agtgaattggaagacttgactgcaaatacaaacacccaggatcctttcttgattggttct tccaaacaaatgaggcatcagtctgaaagccagggagttggtctgagtgacaaggaattg gtttcagatgatgaagaaagaggaacgggcttggaagaaaataatcaagaagagcaaagc atggattcaaacttaggtgaagcagcatctgggtgtgagagtgaaacaagcgtctctgaa gactgctcagggctatcctctcagagtgacattttaaccactcagcagagggataccatg caacataacctgataaagctccagcaggaaatggctgaactagaagctgtgttagaacag catgggagccagccttctaacagctacccttccatcataagtgactcttctgcccttgag gacctgcgaaatccagaacaaagcacatcagaaaaagcagtattaacttcacagaaaagt agtgaataccctataagccagaatccagaaggcctttctgctgacaagtttgaggtgtct gcagatagttctaccagtaaaaataaagaaccaggagtggaaaggtcatccccttctaaa tgcccatcattagatgataggtggtacatgcacagttgctctgggagtcttcagaataga aactacccatctcaagaggagctcattaaggttgttgatgtggaggagcaacagctggaa gagtctgggccacacgatttgacggaaacatcttacttgccaaggcaagatctagaggga accccttacctggaatctggaatcagcctcttctctgatgaccctgaatctgatccttct gaagacagagccccagagtcagctcgtgttggcaacataccatcttcaacctctgcattg aaagttccccaattgaaagttgcagaatctgcccagagtccagctgctgctcatactact gatactgctgggtataatgcaatggaagaaagtgtgagcagggagaagccagaattgaca gcttcaacagaaagggtcaacaaaagaatgtccatggtggtgtctggcctgaccccagaa gaatttatgctcgtgtacaagtttgccagaaaacaccacatcactttaactaatctaatt actgaagagactactcatgttgttatgaaaacagatgctgagtttgtgtgtgaacggaca ctgaaatattttctaggaattgcgggaggaaaatgggtagttagctatttctgggtgacc cagtctattaaagaaagaaaaatgctgaatgagcatgattttgaagtcagaggagatgtg gtcaatggaagaaaccaccaaggtccaaagcgagcaagagaatcccaggacagaaagatc ttcagggggctagaaatctgttgctatgggcccttcaccaacatgcccacagatcaactg gaatggatggtacagctgtgtggtgcttctgtggtgaaggagctttcatcattcaccctt ggcacaggtgtccacccaattgtggttgtgcagccagatgcctggacagaggacaatggc ttccatgcaattgggcagatgtgtgaggcacctgtggtgacccgagagtgggtgttggac agtgtagcactctaccagtgccaggagctggacacctacctgataccccagatcccccac agccactactga |
Protein Sequence | >672 : length: 1863 MDLSALRVEEVQNVINAMQKILECPICLELIKEPVSTKCDHIFCKFCMLKLLNQKKGPSQ CPLCKNDITKRSLQESTRFSQLVEELLKIICAFQLDTGLEYANSYNFAKKENNSPEHLKD EVSIIQSMGYRNRAKRLLQSEPENPSLQETSLSVQLSNLGTVRTLRTKQRIQPQKTSVYI ELGSDSSEDTVNKATYCSVGDQELLQITPQGTRDEISLDSAKKAACEFSETDVTNTEHHQ PSNNDLNTTEKRAAERHPEKYQGSSVSNLHVEPCGTNTHASSLQHENSSLLLTKDRMNVE KAEFCNKSKQPGLARSQHNRWAGSKETCNDRRTPSTEKKVDLNADPLCERKEWNKQKLPC SENPRDTEDVPWITLNSSIQKVNEWFSRSDELLGSDDSHDGESESNAKVADVLDVLNEVD EYSGSSEKIDLLASDPHEALICKSERVHSKSVESNIEDKIFGKTYRKKASLPNLSHVTEN LIIGAFVTEPQIIQERPLTNKLKRKRRPTSGLHPEDFIKKADLAVQKTPEMINQGTNQTE QNGQVMNITNSGHENKTKGDSIQNEKNPNPIESLEKESAFKTKAEPISSSISNMELELNI HNSKAPKKNRLRRKSSTRHIHALELVVSRNLSPPNCTELQIDSCSSSEEIKKKKYNQMPV RHSRNLQLMEGKEPATGAKKSNKPNEQTSKRHDSDTFPELKLTNAPGSFTKCSNTSELKE FVNPSLPREEKEEKLETVKVSNNAEDPKDLMLSGERVLQTERSVESSSISLVPGTDYGTQ ESISLLEVSTLGKAKTEPNKCVSQCAAFENPKGLIHGCSKDNRNDTEGFKYPLGHEVNHS RETSIEMEESELDAQYLQNTFKVSKRQSFAPFSNPGNAEEECATFSAHSGSLKKQSPKVT FECEQKEENQGKNESNIKPVQTVNITAGFPVVGQKDKPVDNAKCSIKGGSRFCLSSQFRG NETGLITPNKHGLLQNPYRIPPLFPIKSFVKTKCKKNLLEENFEEHSMSPEREMGNENIP STVSTISRNNIRENVFKEASSSNINEVGSSTNEVGSSINEIGSSDENIQAELGRNRGPKL NAMLRLGVLQPEVYKQSLPGSNCKHPEIKKQEYEEVVQTVNTDFSPYLISDNLEQPMGSS HASQVCSETPDDLLDDGEIKEDTSFAENDIKESSAVFSKSVQKGELSRSPSPFTHTHLAQ GYRRGAKKLESSEENLSSEDEELPCFQHLLFGKVNNIPSQSTRHSTVATECLSKNTEENL LSLKNSLNDCSNQVILAKASQEHHLSEETKCSASLFSSQCSELEDLTANTNTQDPFLIGS SKQMRHQSESQGVGLSDKELVSDDEERGTGLEENNQEEQSMDSNLGEAASGCESETSVSE DCSGLSSQSDILTTQQRDTMQHNLIKLQQEMAELEAVLEQHGSQPSNSYPSIISDSSALE DLRNPEQSTSEKAVLTSQKSSEYPISQNPEGLSADKFEVSADSSTSKNKEPGVERSSPSK CPSLDDRWYMHSCSGSLQNRNYPSQEELIKVVDVEEQQLEESGPHDLTETSYLPRQDLEG TPYLESGISLFSDDPESDPSEDRAPESARVGNIPSSTSALKVPQLKVAESAQSPAAAHTT DTAGYNAMEESVSREKPELTASTERVNKRMSMVVSGLTPEEFMLVYKFARKHHITLTNLI TEETTHVVMKTDAEFVCERTLKYFLGIAGGKWVVSYFWVTQSIKERKMLNEHDFEVRGDV VNGRNHQGPKRARESQDRKIFRGLEICCYGPFTNMPTDQLEWMVQLCGASVVKELSSFTL GTGVHPIVVVQPDAWTEDNGFHAIGQMCEAPVVTREWVLDSVALYQCQELDTYLIPQIPH SHY |