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A repository for genes associated with endometriosis

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Gene id 672
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol BRCA1   Gene   UCSC   Ensembl
Aliases BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4, PPP1R53, PSCP, RNF53
Gene name BRCA1, DNA repair associated
Alternate names breast cancer type 1 susceptibility protein, BRCA1/BRCA2-containing complex, subunit 1, Fanconi anemia, complementation group S, RING finger protein 53, breast and ovarian cancer susceptibility protein 1, breast cancer 1, early onset, early onset breast cancer ,
Gene location 17q21.31 (43125482: 43044294)     Exons: 24     NC_000017.11
Gene summary(Entrez) This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009]
OMIM 113705

Protein Summary

Protein general information P38398  

Name: Breast cancer type 1 susceptibility protein (EC 2.3.2.27) (RING finger protein 53) (RING type E3 ubiquitin transferase BRCA1)

Length: 1863  Mass: 207,721

Tissue specificity: Isoform 1 and isoform 3 are widely expressed. Isoform 3 is reduced or absent in several breast and ovarian cancer cell lines.

Sequence MDLSALRVEEVQNVINAMQKILECPICLELIKEPVSTKCDHIFCKFCMLKLLNQKKGPSQCPLCKNDITKRSLQE
STRFSQLVEELLKIICAFQLDTGLEYANSYNFAKKENNSPEHLKDEVSIIQSMGYRNRAKRLLQSEPENPSLQET
SLSVQLSNLGTVRTLRTKQRIQPQKTSVYIELGSDSSEDTVNKATYCSVGDQELLQITPQGTRDEISLDSAKKAA
CEFSETDVTNTEHHQPSNNDLNTTEKRAAERHPEKYQGSSVSNLHVEPCGTNTHASSLQHENSSLLLTKDRMNVE
KAEFCNKSKQPGLARSQHNRWAGSKETCNDRRTPSTEKKVDLNADPLCERKEWNKQKLPCSENPRDTEDVPWITL
NSSIQKVNEWFSRSDELLGSDDSHDGESESNAKVADVLDVLNEVDEYSGSSEKIDLLASDPHEALICKSERVHSK
SVESNIEDKIFGKTYRKKASLPNLSHVTENLIIGAFVTEPQIIQERPLTNKLKRKRRPTSGLHPEDFIKKADLAV
QKTPEMINQGTNQTEQNGQVMNITNSGHENKTKGDSIQNEKNPNPIESLEKESAFKTKAEPISSSISNMELELNI
HNSKAPKKNRLRRKSSTRHIHALELVVSRNLSPPNCTELQIDSCSSSEEIKKKKYNQMPVRHSRNLQLMEGKEPA
TGAKKSNKPNEQTSKRHDSDTFPELKLTNAPGSFTKCSNTSELKEFVNPSLPREEKEEKLETVKVSNNAEDPKDL
MLSGERVLQTERSVESSSISLVPGTDYGTQESISLLEVSTLGKAKTEPNKCVSQCAAFENPKGLIHGCSKDNRND
TEGFKYPLGHEVNHSRETSIEMEESELDAQYLQNTFKVSKRQSFAPFSNPGNAEEECATFSAHSGSLKKQSPKVT
FECEQKEENQGKNESNIKPVQTVNITAGFPVVGQKDKPVDNAKCSIKGGSRFCLSSQFRGNETGLITPNKHGLLQ
NPYRIPPLFPIKSFVKTKCKKNLLEENFEEHSMSPEREMGNENIPSTVSTISRNNIRENVFKEASSSNINEVGSS
TNEVGSSINEIGSSDENIQAELGRNRGPKLNAMLRLGVLQPEVYKQSLPGSNCKHPEIKKQEYEEVVQTVNTDFS
PYLISDNLEQPMGSSHASQVCSETPDDLLDDGEIKEDTSFAENDIKESSAVFSKSVQKGELSRSPSPFTHTHLAQ
GYRRGAKKLESSEENLSSEDEELPCFQHLLFGKVNNIPSQSTRHSTVATECLSKNTEENLLSLKNSLNDCSNQVI
LAKASQEHHLSEETKCSASLFSSQCSELEDLTANTNTQDPFLIGSSKQMRHQSESQGVGLSDKELVSDDEERGTG
LEENNQEEQSMDSNLGEAASGCESETSVSEDCSGLSSQSDILTTQQRDTMQHNLIKLQQEMAELEAVLEQHGSQP
SNSYPSIISDSSALEDLRNPEQSTSEKAVLTSQKSSEYPISQNPEGLSADKFEVSADSSTSKNKEPGVERSSPSK
CPSLDDRWYMHSCSGSLQNRNYPSQEELIKVVDVEEQQLEESGPHDLTETSYLPRQDLEGTPYLESGISLFSDDP
ESDPSEDRAPESARVGNIPSSTSALKVPQLKVAESAQSPAAAHTTDTAGYNAMEESVSREKPELTASTERVNKRM
SMVVSGLTPEEFMLVYKFARKHHITLTNLITEETTHVVMKTDAEFVCERTLKYFLGIAGGKWVVSYFWVTQSIKE
RKMLNEHDFEVRGDVVNGRNHQGPKRARESQDRKIFRGLEICCYGPFTNMPTDQLEWMVQLCGASVVKELSSFTL
GTGVHPIVVVQPDAWTEDNGFHAIGQMCEAPVVTREWVLDSVALYQCQELDTYLIPQIPHSHY
Structural information
Protein Domains
BRCT (1642-1736)
BRCT (1756-1855)
Interpro:  IPR011364 IPR031099 IPR025994 IPR001357 IPR018957 IPR001841 IPR013083 IPR017907
Prosite:   PS50172 PS00518 PS50089

Pfam:  
PF00533 PF12820 PF00097
CDD:   cd00027 cd00162

PDB:  
1JM7 1JNX 1N5O 1OQA 1T15 1T29 1T2U 1T2V 1Y98 2ING 3COJ 3K0H 3K0K 3K15 3K16 3PXA 3PXB 3PXC 3PXD 3PXE 4IFI 4IGK 4JLU 4OFB 4U4A 4Y18 4Y2G
PDBsum:   1JM7 1JNX 1N5O 1OQA 1T15 1T29 1T2U 1T2V 1Y98 2ING 3COJ 3K0H 3K0K 3K15 3K16 3PXA 3PXB 3PXC 3PXD 3PXE 4IFI 4IGK 4JLU 4OFB 4U4A 4Y18 4Y2G

DIP:  
5971
MINT:   90433
STRING:   ENSP00000418960;
Other Databases GeneCards:  BRCA1;  Malacards:  BRCA1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000151 ubiquitin ligase complex
NAS cellular_component
GO:0000724 double-strand break repai
r via homologous recombin
ation
IDA biological_process
GO:0000729 DNA double-strand break p
rocessing
TAS biological_process
GO:0000731 DNA synthesis involved in
DNA repair
TAS biological_process
GO:0000732 strand displacement
TAS biological_process
GO:0000794 condensed nuclear chromos
ome
IEA cellular_component
GO:0003677 DNA binding
TAS molecular_function
GO:0003682 chromatin binding
IEA molecular_function
GO:0003684 damaged DNA binding
IEA molecular_function
GO:0003713 transcription coactivator
activity
NAS molecular_function
GO:0003723 RNA binding
IDA molecular_function
GO:0004842 ubiquitin-protein transfe
rase activity
IDA molecular_function
GO:0004842 ubiquitin-protein transfe
rase activity
IDA molecular_function
GO:0004842 ubiquitin-protein transfe
rase activity
IDA molecular_function
GO:0004842 ubiquitin-protein transfe
rase activity
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005694 chromosome
ISS cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005759 mitochondrial matrix
IEA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0006260 DNA replication
TAS biological_process
GO:0006260 DNA replication
TAS biological_process
GO:0006301 postreplication repair
IDA biological_process
GO:0006302 double-strand break repai
r
IMP biological_process
GO:0006302 double-strand break repai
r
IMP biological_process
GO:0006302 double-strand break repai
r
IMP biological_process
GO:0006302 double-strand break repai
r
IDA biological_process
GO:0006303 double-strand break repai
r via nonhomologous end j
oining
TAS biological_process
GO:0006349 regulation of gene expres
sion by genetic imprintin
g
IEA biological_process
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006357 regulation of transcripti
on from RNA polymerase II
promoter
TAS biological_process
GO:0006359 regulation of transcripti
on from RNA polymerase II
I promoter
TAS biological_process
GO:0006633 fatty acid biosynthetic p
rocess
IEA biological_process
GO:0006915 apoptotic process
TAS biological_process
GO:0006974 cellular response to DNA
damage stimulus
TAS biological_process
GO:0006978 DNA damage response, sign
al transduction by p53 cl
ass mediator resulting in
transcription of p21 cla
ss mediator
TAS biological_process
GO:0007059 chromosome segregation
IMP biological_process
GO:0007098 centrosome cycle
IEA biological_process
GO:0007420 brain development
IEA biological_process
GO:0007584 response to nutrient
IEA biological_process
GO:0008270 zinc ion binding
IEA molecular_function
GO:0008274 gamma-tubulin ring comple
x
NAS cellular_component
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IDA biological_process
GO:0009048 dosage compensation by in
activation of X chromosom
e
IBA biological_process
GO:0010212 response to ionizing radi
ation
IMP biological_process
GO:0010212 response to ionizing radi
ation
IMP biological_process
GO:0010212 response to ionizing radi
ation
IMP biological_process
GO:0010575 positive regulation of va
scular endothelial growth
factor production
IMP biological_process
GO:0010628 positive regulation of ge
ne expression
IMP biological_process
GO:0015631 tubulin binding
NAS molecular_function
GO:0016567 protein ubiquitination
IDA biological_process
GO:0016874 ligase activity
IEA molecular_function
GO:0016925 protein sumoylation
TAS biological_process
GO:0019899 enzyme binding
IPI molecular_function
GO:0030521 androgen receptor signali
ng pathway
NAS biological_process
GO:0030529 intracellular ribonucleop
rotein complex
IDA cellular_component
GO:0031052 chromosome breakage
IEA biological_process
GO:0031398 positive regulation of pr
otein ubiquitination
IDA biological_process
GO:0031436 BRCA1-BARD1 complex
IDA cellular_component
GO:0031436 BRCA1-BARD1 complex
IDA cellular_component
GO:0031436 BRCA1-BARD1 complex
IDA cellular_component
GO:0031436 BRCA1-BARD1 complex
IDA cellular_component
GO:0031572 G2 DNA damage checkpoint
IMP biological_process
GO:0031572 G2 DNA damage checkpoint
IMP biological_process
GO:0031572 G2 DNA damage checkpoint
IMP biological_process
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0032355 response to estradiol
IEA biological_process
GO:0033147 negative regulation of in
tracellular estrogen rece
ptor signaling pathway
IMP biological_process
GO:0033160 positive regulation of pr
otein import into nucleus
, translocation
IEA biological_process
GO:0035066 positive regulation of hi
stone acetylation
IDA biological_process
GO:0035067 negative regulation of hi
stone acetylation
IBA biological_process
GO:0042127 regulation of cell prolif
eration
TAS biological_process
GO:0042981 regulation of apoptotic p
rocess
TAS biological_process
GO:0043009 chordate embryonic develo
pment
IBA biological_process
GO:0043234 protein complex
IDA cellular_component
GO:0043627 response to estrogen
IDA biological_process
GO:0044030 regulation of DNA methyla
tion
IEA biological_process
GO:0044212 transcription regulatory
region DNA binding
IDA molecular_function
GO:0045717 negative regulation of fa
tty acid biosynthetic pro
cess
IMP biological_process
GO:0045739 positive regulation of DN
A repair
IMP biological_process
GO:0045739 positive regulation of DN
A repair
IMP biological_process
GO:0045739 positive regulation of DN
A repair
IMP biological_process
GO:0045766 positive regulation of an
giogenesis
IMP biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
TAS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
NAS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IMP biological_process
GO:0046600 negative regulation of ce
ntriole replication
NAS biological_process
GO:0050681 androgen receptor binding
NAS molecular_function
GO:0051571 positive regulation of hi
stone H3-K4 methylation
IDA biological_process
GO:0051572 negative regulation of hi
stone H3-K4 methylation
IEA biological_process
GO:0051573 negative regulation of hi
stone H3-K9 methylation
IDA biological_process
GO:0051574 positive regulation of hi
stone H3-K9 methylation
IEA biological_process
GO:0051865 protein autoubiquitinatio
n
IDA biological_process
GO:0051865 protein autoubiquitinatio
n
IDA biological_process
GO:0070512 positive regulation of hi
stone H4-K20 methylation
IDA biological_process
GO:0070531 BRCA1-A complex
IDA cellular_component
GO:0070531 BRCA1-A complex
IDA cellular_component
GO:0070531 BRCA1-A complex
IDA cellular_component
GO:0070531 BRCA1-A complex
IDA cellular_component
GO:0070531 BRCA1-A complex
IDA cellular_component
GO:0071158 positive regulation of ce
ll cycle arrest
IDA biological_process
GO:0071356 cellular response to tumo
r necrosis factor
IMP biological_process
GO:0071681 cellular response to indo
le-3-methanol
IDA biological_process
GO:0085020 protein K6-linked ubiquit
ination
IDA biological_process
GO:0085020 protein K6-linked ubiquit
ination
IDA biological_process
GO:1901796 regulation of signal tran
sduction by p53 class med
iator
TAS biological_process
GO:1902042 negative regulation of ex
trinsic apoptotic signali
ng pathway via death doma
in receptors
IMP biological_process
GO:2000378 negative regulation of re
active oxygen species met
abolic process
IMP biological_process
GO:2000617 positive regulation of hi
stone H3-K9 acetylation
IDA biological_process
GO:2000620 positive regulation of hi
stone H4-K16 acetylation
IDA biological_process
GO:0000151 ubiquitin ligase complex
NAS cellular_component
GO:0000724 double-strand break repai
r via homologous recombin
ation
IDA biological_process
GO:0000729 DNA double-strand break p
rocessing
TAS biological_process
GO:0000731 DNA synthesis involved in
DNA repair
TAS biological_process
GO:0000732 strand displacement
TAS biological_process
GO:0000793 condensed chromosome
IEA cellular_component
GO:0000794 condensed nuclear chromos
ome
IEA cellular_component
GO:0003677 DNA binding
IEA molecular_function
GO:0003677 DNA binding
IEA molecular_function
GO:0003677 DNA binding
TAS molecular_function
GO:0003682 chromatin binding
IEA molecular_function
GO:0003684 damaged DNA binding
IEA molecular_function
GO:0003713 transcription coactivator
activity
NAS molecular_function
GO:0003723 RNA binding
IDA molecular_function
GO:0004842 ubiquitin-protein transfe
rase activity
IEA molecular_function
GO:0004842 ubiquitin-protein transfe
rase activity
IDA molecular_function
GO:0004842 ubiquitin-protein transfe
rase activity
IDA molecular_function
GO:0004842 ubiquitin-protein transfe
rase activity
IDA molecular_function
GO:0004842 ubiquitin-protein transfe
rase activity
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005694 chromosome
IEA cellular_component
GO:0005694 chromosome
ISS cellular_component
GO:0005694 chromosome
IEA cellular_component
GO:0005694 chromosome
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005759 mitochondrial matrix
IEA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0006260 DNA replication
IEA biological_process
GO:0006260 DNA replication
TAS biological_process
GO:0006260 DNA replication
TAS biological_process
GO:0006281 DNA repair
IEA biological_process
GO:0006281 DNA repair
IEA biological_process
GO:0006301 postreplication repair
IDA biological_process
GO:0006302 double-strand break repai
r
IEA biological_process
GO:0006302 double-strand break repai
r
IMP biological_process
GO:0006302 double-strand break repai
r
IMP biological_process
GO:0006302 double-strand break repai
r
IMP biological_process
GO:0006302 double-strand break repai
r
IDA biological_process
GO:0006303 double-strand break repai
r via nonhomologous end j
oining
TAS biological_process
GO:0006310 DNA recombination
IEA biological_process
GO:0006349 regulation of gene expres
sion by genetic imprintin
g
IEA biological_process
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0006357 regulation of transcripti
on from RNA polymerase II
promoter
TAS biological_process
GO:0006359 regulation of transcripti
on from RNA polymerase II
I promoter
TAS biological_process
GO:0006629 lipid metabolic process
IEA biological_process
GO:0006631 fatty acid metabolic proc
ess
IEA biological_process
GO:0006633 fatty acid biosynthetic p
rocess
IEA biological_process
GO:0006915 apoptotic process
TAS biological_process
GO:0006974 cellular response to DNA
damage stimulus
IEA biological_process
GO:0006974 cellular response to DNA
damage stimulus
IEA biological_process
GO:0006974 cellular response to DNA
damage stimulus
IEA biological_process
GO:0006974 cellular response to DNA
damage stimulus
TAS biological_process
GO:0006978 DNA damage response, sign
al transduction by p53 cl
ass mediator resulting in
transcription of p21 cla
ss mediator
TAS biological_process
GO:0007049 cell cycle
IEA biological_process
GO:0007059 chromosome segregation
IMP biological_process
GO:0007098 centrosome cycle
IEA biological_process
GO:0007420 brain development
IEA biological_process
GO:0007584 response to nutrient
IEA biological_process
GO:0008270 zinc ion binding
IEA molecular_function
GO:0008270 zinc ion binding
TAS molecular_function
GO:0008274 gamma-tubulin ring comple
x
NAS cellular_component
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IDA biological_process
GO:0009048 dosage compensation by in
activation of X chromosom
e
IEA biological_process
GO:0009048 dosage compensation by in
activation of X chromosom
e
IBA biological_process
GO:0010033 response to organic subst
ance
IEA biological_process
GO:0010212 response to ionizing radi
ation
IMP biological_process
GO:0010212 response to ionizing radi
ation
IMP biological_process
GO:0010212 response to ionizing radi
ation
IMP biological_process
GO:0010575 positive regulation of va
scular endothelial growth
factor production
IMP biological_process
GO:0010628 positive regulation of ge
ne expression
IMP biological_process
GO:0015631 tubulin binding
NAS molecular_function
GO:0016567 protein ubiquitination
IEA biological_process
GO:0016567 protein ubiquitination
IDA biological_process
GO:0016874 ligase activity
IEA molecular_function
GO:0016925 protein sumoylation
TAS biological_process
GO:0019899 enzyme binding
IPI molecular_function
GO:0030521 androgen receptor signali
ng pathway
NAS biological_process
GO:0030529 intracellular ribonucleop
rotein complex
IDA cellular_component
GO:0031052 chromosome breakage
IEA biological_process
GO:0031398 positive regulation of pr
otein ubiquitination
IDA biological_process
GO:0031436 BRCA1-BARD1 complex
IDA cellular_component
GO:0031436 BRCA1-BARD1 complex
IDA cellular_component
GO:0031436 BRCA1-BARD1 complex
IDA cellular_component
GO:0031436 BRCA1-BARD1 complex
IDA cellular_component
GO:0031572 G2 DNA damage checkpoint
IMP biological_process
GO:0031572 G2 DNA damage checkpoint
IMP biological_process
GO:0031572 G2 DNA damage checkpoint
IMP biological_process
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0032355 response to estradiol
IEA biological_process
GO:0033147 negative regulation of in
tracellular estrogen rece
ptor signaling pathway
IMP biological_process
GO:0033160 positive regulation of pr
otein import into nucleus
, translocation
IEA biological_process
GO:0033993 response to lipid
IEA biological_process
GO:0035066 positive regulation of hi
stone acetylation
IEA biological_process
GO:0035066 positive regulation of hi
stone acetylation
IDA biological_process
GO:0035067 negative regulation of hi
stone acetylation
IEA biological_process
GO:0035067 negative regulation of hi
stone acetylation
IBA biological_process
GO:0042127 regulation of cell prolif
eration
TAS biological_process
GO:0042981 regulation of apoptotic p
rocess
TAS biological_process
GO:0043009 chordate embryonic develo
pment
IEA biological_process
GO:0043009 chordate embryonic develo
pment
IBA biological_process
GO:0043234 protein complex
IDA cellular_component
GO:0043627 response to estrogen
IDA biological_process
GO:0044030 regulation of DNA methyla
tion
IEA biological_process
GO:0044212 transcription regulatory
region DNA binding
IEA molecular_function
GO:0044212 transcription regulatory
region DNA binding
IDA molecular_function
GO:0045717 negative regulation of fa
tty acid biosynthetic pro
cess
IMP biological_process
GO:0045739 positive regulation of DN
A repair
IMP biological_process
GO:0045739 positive regulation of DN
A repair
IMP biological_process
GO:0045739 positive regulation of DN
A repair
IMP biological_process
GO:0045766 positive regulation of an
giogenesis
IMP biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
TAS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
NAS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IMP biological_process
GO:0046600 negative regulation of ce
ntriole replication
NAS biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0046872 metal ion binding
IEA molecular_function
GO:0050681 androgen receptor binding
NAS molecular_function
GO:0051571 positive regulation of hi
stone H3-K4 methylation
IEA biological_process
GO:0051571 positive regulation of hi
stone H3-K4 methylation
IDA biological_process
GO:0051572 negative regulation of hi
stone H3-K4 methylation
IEA biological_process
GO:0051573 negative regulation of hi
stone H3-K9 methylation
IEA biological_process
GO:0051573 negative regulation of hi
stone H3-K9 methylation
IDA biological_process
GO:0051574 positive regulation of hi
stone H3-K9 methylation
IEA biological_process
GO:0051865 protein autoubiquitinatio
n
IDA biological_process
GO:0051865 protein autoubiquitinatio
n
IDA biological_process
GO:0070512 positive regulation of hi
stone H4-K20 methylation
IEA biological_process
GO:0070512 positive regulation of hi
stone H4-K20 methylation
IDA biological_process
GO:0070531 BRCA1-A complex
IDA cellular_component
GO:0070531 BRCA1-A complex
IDA cellular_component
GO:0070531 BRCA1-A complex
IDA cellular_component
GO:0070531 BRCA1-A complex
IDA cellular_component
GO:0070531 BRCA1-A complex
IDA cellular_component
GO:0071158 positive regulation of ce
ll cycle arrest
IDA biological_process
GO:0071356 cellular response to tumo
r necrosis factor
IMP biological_process
GO:0071681 cellular response to indo
le-3-methanol
IDA biological_process
GO:0085020 protein K6-linked ubiquit
ination
IDA biological_process
GO:0085020 protein K6-linked ubiquit
ination
IDA biological_process
GO:1901796 regulation of signal tran
sduction by p53 class med
iator
TAS biological_process
GO:1902042 negative regulation of ex
trinsic apoptotic signali
ng pathway via death doma
in receptors
IMP biological_process
GO:2000378 negative regulation of re
active oxygen species met
abolic process
IMP biological_process
GO:2000617 positive regulation of hi
stone H3-K9 acetylation
IEA biological_process
GO:2000617 positive regulation of hi
stone H3-K9 acetylation
IDA biological_process
GO:2000620 positive regulation of hi
stone H4-K16 acetylation
IEA biological_process
GO:2000620 positive regulation of hi
stone H4-K16 acetylation
IDA biological_process
GO:0000151 ubiquitin ligase complex
NAS cellular_component
GO:0000724 double-strand break repai
r via homologous recombin
ation
IDA biological_process
GO:0000729 DNA double-strand break p
rocessing
TAS biological_process
GO:0000731 DNA synthesis involved in
DNA repair
TAS biological_process
GO:0000732 strand displacement
TAS biological_process
GO:0003677 DNA binding
TAS molecular_function
GO:0003713 transcription coactivator
activity
NAS molecular_function
GO:0003723 RNA binding
IDA molecular_function
GO:0004842 ubiquitin-protein transfe
rase activity
IDA molecular_function
GO:0004842 ubiquitin-protein transfe
rase activity
IDA molecular_function
GO:0004842 ubiquitin-protein transfe
rase activity
IDA molecular_function
GO:0004842 ubiquitin-protein transfe
rase activity
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005694 chromosome
ISS cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0006260 DNA replication
TAS biological_process
GO:0006260 DNA replication
TAS biological_process
GO:0006301 postreplication repair
IDA biological_process
GO:0006302 double-strand break repai
r
IMP biological_process
GO:0006302 double-strand break repai
r
IMP biological_process
GO:0006302 double-strand break repai
r
IMP biological_process
GO:0006302 double-strand break repai
r
IDA biological_process
GO:0006303 double-strand break repai
r via nonhomologous end j
oining
TAS biological_process
GO:0006357 regulation of transcripti
on from RNA polymerase II
promoter
TAS biological_process
GO:0006359 regulation of transcripti
on from RNA polymerase II
I promoter
TAS biological_process
GO:0006915 apoptotic process
TAS biological_process
GO:0006974 cellular response to DNA
damage stimulus
TAS biological_process
GO:0006978 DNA damage response, sign
al transduction by p53 cl
ass mediator resulting in
transcription of p21 cla
ss mediator
TAS biological_process
GO:0007059 chromosome segregation
IMP biological_process
GO:0008270 zinc ion binding
TAS molecular_function
GO:0008274 gamma-tubulin ring comple
x
NAS cellular_component
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IDA biological_process
GO:0009048 dosage compensation by in
activation of X chromosom
e
IBA biological_process
GO:0010212 response to ionizing radi
ation
IMP biological_process
GO:0010212 response to ionizing radi
ation
IMP biological_process
GO:0010212 response to ionizing radi
ation
IMP biological_process
GO:0010575 positive regulation of va
scular endothelial growth
factor production
IMP biological_process
GO:0010628 positive regulation of ge
ne expression
IMP biological_process
GO:0015631 tubulin binding
NAS molecular_function
GO:0016567 protein ubiquitination
IDA biological_process
GO:0016925 protein sumoylation
TAS biological_process
GO:0019899 enzyme binding
IPI molecular_function
GO:0030521 androgen receptor signali
ng pathway
NAS biological_process
GO:0030529 intracellular ribonucleop
rotein complex
IDA cellular_component
GO:0031398 positive regulation of pr
otein ubiquitination
IDA biological_process
GO:0031436 BRCA1-BARD1 complex
IDA cellular_component
GO:0031436 BRCA1-BARD1 complex
IDA cellular_component
GO:0031436 BRCA1-BARD1 complex
IDA cellular_component
GO:0031436 BRCA1-BARD1 complex
IDA cellular_component
GO:0031572 G2 DNA damage checkpoint
IMP biological_process
GO:0031572 G2 DNA damage checkpoint
IMP biological_process
GO:0031572 G2 DNA damage checkpoint
IMP biological_process
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0033147 negative regulation of in
tracellular estrogen rece
ptor signaling pathway
IMP biological_process
GO:0035066 positive regulation of hi
stone acetylation
IDA biological_process
GO:0035067 negative regulation of hi
stone acetylation
IBA biological_process
GO:0042127 regulation of cell prolif
eration
TAS biological_process
GO:0042981 regulation of apoptotic p
rocess
TAS biological_process
GO:0043009 chordate embryonic develo
pment
IBA biological_process
GO:0043234 protein complex
IDA cellular_component
GO:0043627 response to estrogen
IDA biological_process
GO:0044212 transcription regulatory
region DNA binding
IDA molecular_function
GO:0045717 negative regulation of fa
tty acid biosynthetic pro
cess
IMP biological_process
GO:0045739 positive regulation of DN
A repair
IMP biological_process
GO:0045739 positive regulation of DN
A repair
IMP biological_process
GO:0045739 positive regulation of DN
A repair
IMP biological_process
GO:0045766 positive regulation of an
giogenesis
IMP biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
TAS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
NAS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IMP biological_process
GO:0046600 negative regulation of ce
ntriole replication
NAS biological_process
GO:0050681 androgen receptor binding
NAS molecular_function
GO:0051571 positive regulation of hi
stone H3-K4 methylation
IDA biological_process
GO:0051573 negative regulation of hi
stone H3-K9 methylation
IDA biological_process
GO:0051865 protein autoubiquitinatio
n
IDA biological_process
GO:0051865 protein autoubiquitinatio
n
IDA biological_process
GO:0070512 positive regulation of hi
stone H4-K20 methylation
IDA biological_process
GO:0070531 BRCA1-A complex
IDA cellular_component
GO:0070531 BRCA1-A complex
IDA cellular_component
GO:0070531 BRCA1-A complex
IDA cellular_component
GO:0070531 BRCA1-A complex
IDA cellular_component
GO:0070531 BRCA1-A complex
IDA cellular_component
GO:0071158 positive regulation of ce
ll cycle arrest
IDA biological_process
GO:0071356 cellular response to tumo
r necrosis factor
IMP biological_process
GO:0071681 cellular response to indo
le-3-methanol
IDA biological_process
GO:0085020 protein K6-linked ubiquit
ination
IDA biological_process
GO:0085020 protein K6-linked ubiquit
ination
IDA biological_process
GO:1901796 regulation of signal tran
sduction by p53 class med
iator
TAS biological_process
GO:1902042 negative regulation of ex
trinsic apoptotic signali
ng pathway via death doma
in receptors
IMP biological_process
GO:2000378 negative regulation of re
active oxygen species met
abolic process
IMP biological_process
GO:2000617 positive regulation of hi
stone H3-K9 acetylation
IDA biological_process
GO:2000620 positive regulation of hi
stone H4-K16 acetylation
IDA biological_process

KEGG pathways

hsa04151  PI3K-Akt signaling pathway
hsa05206  MicroRNAs in cancer
hsa05224  Breast cancer
hsa01524  Platinum drug resistance
hsa04120  Ubiquitin mediated proteolysis
hsa03460  Fanconi anemia pathway
hsa03440  Homologous recombination

Diseases

Associated diseases References
Azoospermia PMID: 19200961
Breast cancer KEGG: H00031
Endometriosis PMID: 25380576
Fallopian tube cancer KEGG: H01554
Male infertility PMID: 18270180
Meningomyelocele PMID: 17640328
Oligoasthenoteratospermia PMID: 18155199
Ovarian reserve PMID: 25256924, KEGG: H00027
Peritoneal carcinoma KEGG: H01665
Premature menopause PMID: 16773440

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25380576 Endometrio
sis
BRCA1 rs71361504 (-/GTT) Indian
1063 (573 endom
etriosis cases,
490 controls)

Show abstract
12568865 Endometrio
sis
BrCA1 (T3232A)
7 women in two
generations wi
th familial end
ometriosis
BrCA1
BrCA2
p53
Show abstract