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| General information | Expression | Regulation | Mutation | Interaction |
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Basic Information |
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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 |
Source | Count: 4; Pubmed_search,TAG,Generif,UniProt |
Literature support | Count: 35 PubMed records as below. |
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Evidence Status |
Description |
reviewed | Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells. |
reviewed | tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155. |
reviewed | Regulated recruitment of tumor suppressor BRCA1 to the p21 gene by coactivator methylation. |
reviewed | These results support the existence of a heterozygous phenotype of BRCA1 and suggest that the loss of one BRCA1 allele may suppress the fitness advantage caused by the inactivation of other tumor suppressor genes. |
reviewed | "BRCA1 modulates the expression of hnRNPA2B1 and KHSRP involved in the processing of RNA, highlighting the complex nature of BRCA1-associated tumor suppressor function and disclosing a novel mechanism by which BRCA1 may affect transcription." |
reviewed | "Methylation of the tumor suppressor protein, BRCA1, influences its transcriptional cofactor function." |
reviewed | This feature item briefly reviews the relation of the tumor suppressor function of BRCA1 with DNA damage and repair. |
reviewed | Presymptomatic breast cancer in Egypt: role of BRCA1 and BRCA2 tumor suppressor genes mutations detection. |
reviewed | HOXA9 restricts breast tumor aggression by modulating expression of the tumor suppressor gene BRCA1. |
reviewed | The UBXN1 protein associates with autoubiquitinated forms of the BRCA1 tumor suppressor and inhibits its enzymatic function. |
| More detail of all 35 literatures about BRCA1 | |
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Pathways and Diseases |
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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 |
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External Links |
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Links to Entrez Gene | 672 |
Links to all GeneRIF Items | 672 |
Links to iHOP | 672 |
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Sequence Information |
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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 |