P38398

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession BRCA1_HUMAN; P38398;
Entrez ID 672
GenBank Protein ID NM_007294.3; NM_007297.3; NM_007298.3; NM_007299.3; NM_007300.3;
GenBank Nucleotide ID NP_009225.1; NP_009228.2; NP_009229.2; NP_009230.2; NP_009231.2;
Protein Name Breast cancer type 1 susceptibility protein (EC 2.3.2.27) (RING finger protein 53) (RING-type E3 ubiquitin transferase BRCA1)
Gene Name BRCA1; RNF53
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionE3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase activity is required for its tumor suppressor function. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic st(view all)
Sequence
(Fasta)
MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ 60
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD 120
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI 180
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ 240
PSNNDLNTTE KRAAERHPEK YQGSSVSNLH VEPCGTNTHA SSLQHENSSL LLTKDRMNVE 300
KAEFCNKSKQ PGLARSQHNR WAGSKETCND RRTPSTEKKV DLNADPLCER KEWNKQKLPC 360
SENPRDTEDV PWITLNSSIQ KVNEWFSRSD ELLGSDDSHD GESESNAKVA DVLDVLNEVD 420
EYSGSSEKID LLASDPHEAL ICKSERVHSK SVESNIEDKI FGKTYRKKAS LPNLSHVTEN 480
LIIGAFVTEP QIIQERPLTN KLKRKRRPTS GLHPEDFIKK ADLAVQKTPE MINQGTNQTE 540
QNGQVMNITN SGHENKTKGD SIQNEKNPNP IESLEKESAF KTKAEPISSS ISNMELELNI 600
HNSKAPKKNR LRRKSSTRHI HALELVVSRN LSPPNCTELQ IDSCSSSEEI KKKKYNQMPV 660
RHSRNLQLME GKEPATGAKK SNKPNEQTSK RHDSDTFPEL KLTNAPGSFT KCSNTSELKE 720
FVNPSLPREE KEEKLETVKV SNNAEDPKDL MLSGERVLQT ERSVESSSIS LVPGTDYGTQ 780
ESISLLEVST LGKAKTEPNK CVSQCAAFEN PKGLIHGCSK DNRNDTEGFK YPLGHEVNHS 840
RETSIEMEES ELDAQYLQNT FKVSKRQSFA PFSNPGNAEE ECATFSAHSG SLKKQSPKVT 900
FECEQKEENQ GKNESNIKPV QTVNITAGFP VVGQKDKPVD NAKCSIKGGS RFCLSSQFRG 960
NETGLITPNK HGLLQNPYRI PPLFPIKSFV KTKCKKNLLE ENFEEHSMSP EREMGNENIP 1020
STVSTISRNN IRENVFKEAS SSNINEVGSS TNEVGSSINE IGSSDENIQA ELGRNRGPKL 1080
NAMLRLGVLQ PEVYKQSLPG SNCKHPEIKK QEYEEVVQTV NTDFSPYLIS DNLEQPMGSS 1140
HASQVCSETP DDLLDDGEIK EDTSFAENDI KESSAVFSKS VQKGELSRSP SPFTHTHLAQ 1200
GYRRGAKKLE SSEENLSSED EELPCFQHLL FGKVNNIPSQ STRHSTVATE CLSKNTEENL 1260
LSLKNSLNDC SNQVILAKAS QEHHLSEETK CSASLFSSQC SELEDLTANT NTQDPFLIGS 1320
SKQMRHQSES QGVGLSDKEL VSDDEERGTG LEENNQEEQS MDSNLGEAAS GCESETSVSE 1380
DCSGLSSQSD ILTTQQRDTM QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP SIISDSSALE 1440
DLRNPEQSTS EKAVLTSQKS SEYPISQNPE GLSADKFEVS ADSSTSKNKE PGVERSSPSK 1500
CPSLDDRWYM HSCSGSLQNR NYPSQEELIK VVDVEEQQLE ESGPHDLTET SYLPRQDLEG 1560
TPYLESGISL FSDDPESDPS EDRAPESARV GNIPSSTSAL KVPQLKVAES AQSPAAAHTT 1620
DTAGYNAMEE SVSREKPELT ASTERVNKRM SMVVSGLTPE EFMLVYKFAR KHHITLTNLI 1680
TEETTHVVMK TDAEFVCERT LKYFLGIAGG KWVVSYFWVT QSIKERKMLN EHDFEVRGDV 1740
VNGRNHQGPK RARESQDRKI FRGLEICCYG PFTNMPTDQL EWMVQLCGAS VVKELSSFTL 1800
GTGVHPIVVV QPDAWTEDNG FHAIGQMCEA PVVTREWVLD SVALYQCQEL DTYLIPQIPH 1860
SHY 1864

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1MethylationBreast cancer/tumor/carcinomaMCF7 cell lineP2733079; 20614009; 18647968
[Reference]: Quantitative multiplex methylation-specific PCR of 11 genes involved in breast carcinogenesis (RARB, RASSF1, TWIST1, CCND2, ESR1, SCGB3A1, BRCA1, BRCA2, CDKN2A, APC, CDH1) was carried out on 32 BRCA1-associated and 46 sporadic breast carcinomas and on normal breast tissue from seven BRCA1 mutation carriers and 13 non-carriers.;BRCA1 is methylated in breast cancer cell lines
2PolyubiquitinationBreast cancer/tumor/carcinomaU19887602
[Reference]: Taken together, these results suggest a possibility that overexpression of UBE2T might enhance polyubiquitination and degradation of BRCA1 protein in breast cancer cells
3Serine PhosphorylationAtaxia-telangiectasic cancerDS138710866324
[Reference]: Using phospho-specific antibodies against serines 1387, 1423, and 1457 of BRCA1, we demonstrate radiation-induced, ATM-dependent phosphorylation of BRCA1 at these sites. These findings show that BRCA1 is regulated by an ATM-dependent mechanism as a part of the cellular response to DNA damage. This interaction between ATM and BRCA1 argues in favor of the involvement of particular aspects of ATM function in breast cancer predisposition.
4Serine PhosphorylationAtaxia-telangiectasic cancerDS142310866324
[Reference]: Using phospho-specific antibodies against serines 1387, 1423, and 1457 of BRCA1, we demonstrate radiation-induced, ATM-dependent phosphorylation of BRCA1 at these sites. These findings show that BRCA1 is regulated by an ATM-dependent mechanism as a part of the cellular response to DNA damage. This interaction between ATM and BRCA1 argues in favor of the involvement of particular aspects of ATM function in breast cancer predisposition.
5Serine PhosphorylationAtaxia-telangiectasic cancerDS145710866324
[Reference]: Using phospho-specific antibodies against serines 1387, 1423, and 1457 of BRCA1, we demonstrate radiation-induced, ATM-dependent phosphorylation of BRCA1 at these sites. These findings show that BRCA1 is regulated by an ATM-dependent mechanism as a part of the cellular response to DNA damage.

※ Disease Cross-ref Annotation

DatabaseAnnotation
Cancer Gene Census
ovarian breast, ovarian hereditary breast/ovarian cancer
CTD (Curated)
(count: 14)
(view all)
MESH:D001943 ; Breast Neoplasms
OMIM:604370 ; BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
MESH:D002277 ; Carcinoma
MESH:D003528 ; Carcinoma, Adenoid Cystic
MESH:D002471 ; Cell Transformation, Neoplastic
MESH:D019457 ; Chromosome Breakage
HGMD
(count: 1197)
(view all)
CE090199; Promoter activity, association with; Repeat variations
CP025123; Breast cancer; Complex rearrangements
CP025124; Breast and/or ovarian cancer; Complex rearrangements
CP072796; Breast and/or ovarian cancer; Complex rearrangements
CP005255; Breast cancer; Complex rearrangements
CP025125; Breast and/or ovarian cancer; Complex rearrangements
GWASdb
(count: 42)
(view all)
rs12516; Taste perception; sensory system disease
rs8176318; Depression (quantitative trait); mental depression
rs4793190; Depression (quantitative trait); mental depression
rs3092988; Depression (quantitative trait); mental depression
rs8070179; Depression (quantitative trait); mental depression
rs8176297; Depression (quantitative trait); mental depression

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 121)
(view all)
1007      EENFEEHSMSPEREM     dbPAF
1009      NFEEHSMSPEREMGN     dbPAF
1050      NINEVGSSTNEVGSS     dbPAF
1101      YKQSLPGSNCKHPEI     dbPAF
114       FAKKENNSPEHLKDE     dbPAF
1140      LEQPMGSSHASQVCS     dbPAF
Acetylation
(count: 3)
1079      LGRNRGPKLNAMLRL     PLMD
1601      PSSTSALKVPQLKVA     PLMD
679       KEPATGAKKSNKPNE     PLMD
Ubiquitination
(count: 8)
(view all)
1264      EENLLSLKNSLNDCS     PLMD
1601      PSSTSALKVPQLKVA     PLMD
1606      ALKVPQLKVAESAQS     PLMD
1667      EEFMLVYKFARKHHI     PLMD
32        PICLELIKEPVSTKC     PLMD
450       KSERVHSKSVESNIE     PLMD
Sumoylation
(count: 16)
(view all)
1079      LGRNRGPKLNAMLRL     PLMD
109       ANSYNFAKKENNSPE     PLMD
1109      NCKHPEIKKQEYEEV     PLMD
119       NNSPEHLKDEVSIIQ     PLMD
1636      EESVSREKPELTAST     PLMD
1690      ETTHVVMKTDAEFVC     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource
B5MDS6P38398MINT
H7BYL5P38398MINT
O14757P38398IntAct
O14867P38398DIP
O15164P38398IntAct
O15360P38398MINT
O60619P38398DIP
O60674P38398MINT
O75486P38398IntAct
O75528P38398IntAct
O76064P38398IntAct
O96017P38398IntAct
P00519P38398MINT
P01106P38398DIP
P03372P38398IntAct; MINT
P04637P38398DIP; MINT
P05412P38398DIP
P10275P38398DIP
P10809P38398IntAct
P14923P38398IntAct
P15822P38398IntAct
P16104P38398IntAct
P16220P38398MINT
P16333P38398IntAct
P17275P38398DIP
P17535P38398DIP
P18846P38398DIP
P23458P38398MINT
P24385P38398IntAct
P24864P38398IntAct
P27986P38398IntAct; MINT
P31749P38398IntAct
P33240P38398IntAct
P36873P38398IntAct
P38398P38398DIP; IntAct
P38398P42694MINT
P38398P43246IntAct
P38398P50542IntAct
P38398P51587DIP
P38398P51948IntAct
P38398P52292IntAct
P38398P52294MINT
P38398P52701IntAct
P38398P54727MINT
P38398P61956DIP
P38398P62136IntAct
P38398P62140IntAct
P38398P62805MINT
P38398P63165DIP
P38398Q01094DIP
P38398Q12888IntAct
P38398Q12962IntAct
P38398Q13085IntAct
P38398Q13363DIP
P38398Q14192IntAct; MINT
P38398Q14676IntAct
P38398Q14683IntAct; MINT
P38398Q16594IntAct
P38398Q17RB8IntAct
P38398Q53YX5DIP
P38398Q5VTD9IntAct; MINT
P38398Q6NZY4IntAct
P38398Q6UWZ7DIP; IntAct
P38398Q7Z4K8IntAct
P38398Q7Z569IntAct; MINT
P38398Q86UV6IntAct
P38398Q86YC2DIP
P38398Q8WX92IntAct
P38398Q8WZA1IntAct
P38398Q92547DIP
P38398Q92560IntAct
P38398Q92830IntAct
P38398Q92878IntAct
P38398Q96RL1DIP; IntAct
P38398Q99708IntAct
P38398Q99728DIP; IntAct
P38398Q9BX63DIP; IntAct; MINT
P38398Q9BXW9MINT
P38398Q9GZX5IntAct
P38398Q9UBD5IntAct
P38398Q9Y385IntAct
P38398Q9Y4A5IntAct