KEGG   Homo sapiens (human): 672Help
Entry
672               CDS       T01001                                 

Gene name
BRCA1, BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4, PPP1R53, PSCP, RNF53
Definition
(RefSeq) BRCA1, DNA repair associated
  KO
K10605  breast cancer type 1 susceptibility protein [EC:2.3.2.27]
Organism
hsa  Homo sapiens (human)
Pathway
hsa01524  Platinum drug resistance
hsa03440  Homologous recombination
hsa03460  Fanconi anemia pathway
hsa04120  Ubiquitin mediated proteolysis
hsa04151  PI3K-Akt signaling pathway
hsa05206  MicroRNAs in cancer
hsa05224  Breast cancer
Module
hsa_M00295  BRCA1-associated genome surveillance complex (BASC)
Disease
H00027  Ovarian cancer
H00031  Breast cancer
H01554  Fallopian tube cancer
H01665  Primary peritoneal carcinoma
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Genetic Information Processing
  Folding, sorting and degradation
   04120 Ubiquitin mediated proteolysis
    672 (BRCA1)
  Replication and repair
   03440 Homologous recombination
    672 (BRCA1)
   03460 Fanconi anemia pathway
    672 (BRCA1)
 Environmental Information Processing
  Signal transduction
   04151 PI3K-Akt signaling pathway
    672 (BRCA1)
 Human Diseases
  Cancers
   05206 MicroRNAs in cancer
    672 (BRCA1)
   05224 Breast cancer
    672 (BRCA1)
  Drug resistance
   01524 Platinum drug resistance
    672 (BRCA1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.2  Aminoacyltransferases
    2.3.2.27  RING-type E3 ubiquitin transferase
     672 (BRCA1)
Protein phosphatases and associated proteins [BR:hsa01009]
 Protein Ser/ Thr phosphatases
  Phosphoprotein phosphatases (PPPs)
   Protein phosphatase-1
    PP1-interacting proteins (PIPs)
     672 (BRCA1)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  Single Ring-finger type E3
   Other single Ring-finger type E3
    672 (BRCA1)
  Multi subunit Ring-finger type E3
   BRCC complex
    672 (BRCA1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic Type
  Centrosome formation and ciliogenesis proteins
   Centrosome duplication proteins
    Regulators of centriole replication
     672 (BRCA1)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic Type
  DSBR (double strand breaks repair)
   HR (homologous recombination)
    BRCA1-A complex
     672 (BRCA1)
    BRCA1-B complex
     672 (BRCA1)
    BRCA1-C complex
     672 (BRCA1)
    BRCA complex
     672 (BRCA1)
   FA (Fanconi anemia) pathway
    Downstream FA components
     672 (BRCA1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: BRCT_assoc BRCT zf-C3HC4 zf-C3HC4_2 zf-C3HC4_4 zf-C3HC4_3 zf-RING_UBOX zf-RING_2 zf-RING_5 zf-Nse zf-RING_6 BRCT_2 zf-ANAPC11 Prok-RING_4 zf-RING_10 zf-rbx1
Motif
Other DBs
NCBI-GeneID: 672
NCBI-ProteinID: NP_009225
OMIM: 113705
HGNC: 1100
Ensembl: ENSG00000012048
Vega: OTTHUMG00000157426
Pharos: P38398(Tchem)
UniProt: P38398
LinkDB All DBs
Structure
PDB: 

Position
17q21.31
AA seq 1863 aa AA seqDB search
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
NT seq 5592 nt NT seq  +upstreamnt  +downstreamnt
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

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