Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

672

Name

BRCA1

Synonym

BRCAI|BRCC1|BROVCA1|FANCS|IRIS|PNCA4|PPP1R53|PSCP|RNF53;breast cancer 1, early onset;BRCA1;breast cancer 1, early onset

Definition

BRCA1/BRCA2-containing complex, subunit 1|Fanconi anemia, complementation group S|RING finger protein 53|breast and ovarian cancer susceptibility protein 1|breast and ovarian cancer sususceptibility protein 1|breast cancer type 1 susceptibility protein|pr

Position

17q21

Gene Type

protein-coding

TSG scores

Description

TUSON ranking

121

TUSON P-value

6.27E-05

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

The sequences provided here are only the longest representative sequences, not covering all the isoforms.

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
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