KEGG T01001: 672

Homo sapiens (human): 672

Entry

672 CDS T01001

Gene name

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

Definition

breast cancer 1, early onset

Orthology

K10605

breast cancer type 1 susceptibility protein

Organism

hsa Homo sapiens (human)

Pathway

hsa03460	Fanconi anemia pathway
hsa04120	Ubiquitin mediated proteolysis
hsa04151	PI3K-Akt signaling pathway

Module

hsa_M00295

BRCA1-associated genome surveillance complex (BASC)

Disease

H00027	Ovarian cancer
H00031	Breast cancer

Class

Genetic Information Processing; Folding, sorting and degradation; Ubiquitin mediated proteolysis [PATH:hsa04120]
Genetic Information Processing; Replication and repair; Fanconi anemia pathway [PATH:hsa03460]
Environmental Information Processing; Signal transduction; PI3K-Akt signaling pathway [PATH:hsa04151]

SSDB

Motif

Pfam:

EIN3 BRCT_assoc BRCT zf-C3HC4 zf-RING_2 zf-C3HC4_4 zf-C3HC4_2 zf-C3HC4_3 zf-RING_5 zf-RING_6 zf-Nse zf-RING_UBOX zf-rbx1 zf-Apc11 zf-RING_4

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

P38398 E7ETR2 E9PFC7 E9PFZ0 Q1RMC1

Structure

PDB:

1T15 1T29 3PXB 1Y98 1JNX 3PXA 3K0H 3K0K 3PXC 3PXD 3K15 1T2U 1N5O 3PXE 3K16 3COJ 1T2V 2ING 1OQA 1JM7

Position

17q21

AA seq 1863 aa
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 +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

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (4)   
   KEGG PATHWAY (3)   
   KEGG MODULE (1)   
Disease (6)   
   KEGG DISEASE (2)   
   OMIM (4)   
Drug (1)   
   KEGG DRUG (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (28)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (20)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (10)   
   UniProt (5)   
   RefSeq(pep) (5)   
DNA sequence (75)   
   RefSeq(nuc) (13)   
   GenBank (31)   
   EMBL (31)   
3D Structure (20)   
   PDB (20)   
Protein domain (15)   
   Pfam (15)   
All databases (161)   

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