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MIRAGE
Breast cancer type 1 susceptibility protein
Summary
- UniProt ID
- P38398
- Gene Symbol
-
- BRCA1
- RNF53
- Gene ID
- 672
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Activator
- Alternative initiation
- Alternative splicing
- Cell cycle
- Chromosome
- Cytoplasm
- DNA recombination
- DNA repair
- DNA-binding
- Direct protein sequencing
- Disease variant
- Fanconi anemia
- Fatty acid biosynthesis
- Isopeptide bond
- Nucleus
- Phosphoprotein
- Reference proteome
- Repeat
- Transcription regulation
- Transferase
- Tumor suppressor
- Ubl conjugation
- Ubl conjugation pathway
- Zinc-finger
- Gene Ontology (GO)
| GO Term |
|---|
| plasma membrane |
| protein-containing complex |
| intracellular non-membrane-bounded organelle |
| nucleoplasm |
| ubiquitin ligase complex |
| ribonucleoprotein complex |
| nuclear ubiquitin ligase complex |
| lateral element |
| XY body |
| BRCA1-BARD1 complex |
| GO Term |
|---|
| transcription coactivator activity |
| zinc ion binding |
| DNA-binding transcription activator activity |
| p53 binding |
| DNA binding |
| damaged DNA binding |
| RNA binding |
| ubiquitin-protein transferase activity |
| enzyme binding |
| ubiquitin protein ligase binding |
Sequence
MDLSALRVEEVQNVINAMQKILECPICLELIKEPVSTKCDHIFCKFCMLKLLNQKKGPSQCPLCKNDITKRSLQESTRFSQLVEELLKIICAFQLDTGLEYANSYNFAKKENNSPEHLKDEVSIIQSMGYRNRAKRLLQSEPENPSLQETSLSVQLSNLGTVRTLRTKQRIQPQKTSVYIELGSDSSEDTVNKATYCSVGDQELLQITPQGTRDEISLDSAKKAACEFSETDVTNTEHHQPSNNDLNTTEKRAAERHPEKYQGSSVSNLHVEPCGTNTHASSLQHENSSLLLTKDRMNVEKAEFCNKSKQPGLARSQHNRWAGSKETCNDRRTPSTEKKVDLNADPLCERKEWNKQKLPCSENPRDTEDVPWITLNSSIQKVNEWFSRSDELLGSDDSHDGESESNAKVADVLDVLNEVDEYSGSSEKIDLLASDPHEALICKSERVHSKSVESNIEDKIFGKTYRKKASLPNLSHVTENLIIGAFVTEPQIIQERPLTNKLKRKRRPTSGLHPEDFIKKADLAVQKTPEMINQGTNQTEQNGQVMNITNSGHENKTKGDSIQNEKNPNPIESLEKESAFKTKAEPISSSISNMELELNIHNSKAPKKNRLRRKSSTRHIHALELVVSRNLSPPNCTELQIDSCSSSEEIKKKKYNQMPVRHSRNLQLMEGKEPATGAKKSNKPNEQTSKRHDSDTFPELKLTNAPGSFTKCSNTSELKEFVNPSLPREEKEEKLETVKVSNNAEDPKDLMLSGERVLQTERSVESSSISLVPGTDYGTQESISLLEVSTLGKAKTEPNKCVSQCAAFENPKGLIHGCSKDNRNDTEGFKYPLGHEVNHSRETSIEMEESELDAQYLQNTFKVSKRQSFAPFSNPGNAEEECATFSAHSGSLKKQSPKVTFECEQKEENQGKNESNIKPVQTVNITAGFPVVGQKDKPVDNAKCSIKGGSRFCLSSQFRGNETGLITPNKHGLLQNPYRIPPLFPIKSFVKTKCKKNLLEENFEEHSMSPEREMGNENIPSTVSTISRNNIRENVFKEASSSNINEVGSSTNEVGSSINEIGSSDENIQAELGRNRGPKLNAMLRLGVLQPEVYKQSLPGSNCKHPEIKKQEYEEVVQTVNTDFSPYLISDNLEQPMGSSHASQVCSETPDDLLDDGEIKEDTSFAENDIKESSAVFSKSVQKGELSRSPSPFTHTHLAQGYRRGAKKLESSEENLSSEDEELPCFQHLLFGKVNNIPSQSTRHSTVATECLSKNTEENLLSLKNSLNDCSNQVILAKASQEHHLSEETKCSASLFSSQCSELEDLTANTNTQDPFLIGSSKQMRHQSESQGVGLSDKELVSDDEERGTGLEENNQEEQSMDSNLGEAASGCESETSVSEDCSGLSSQSDILTTQQRDTMQHNLIKLQQEMAELEAVLEQHGSQPSNSYPSIISDSSALEDLRNPEQSTSEKAVLTSQKSSEYPISQNPEGLSADKFEVSADSSTSKNKEPGVERSSPSKCPSLDDRWYMHSCSGSLQNRNYPSQEELIKVVDVEEQQLEESGPHDLTETSYLPRQDLEGTPYLESGISLFSDDPESDPSEDRAPESARVGNIPSSTSALKVPQLKVAESAQSPAAAHTTDTAGYNAMEESVSREKPELTASTERVNKRMSMVVSGLTPEEFMLVYKFARKHHITLTNLITEETTHVVMKTDAEFVCERTLKYFLGIAGGKWVVSYFWVTQSIKERKMLNEHDFEVRGDVVNGRNHQGPKRARESQDRKIFRGLEICCYGPFTNMPTDQLEWMVQLCGASVVKELSSFTLGTGVHPIVVVQPDAWTEDNGFHAIGQMCEAPVVTREWVLDSVALYQCQELDTYLIPQIPHSHY
Glycosylation Sites
G00912UN
G48414YA
G34071GT
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Defective DNA double strand break response due to BARD1 loss of function | Homo sapiens |
| Defective DNA double strand break response due to BRCA1 loss of function | Homo sapiens |
| Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function | Homo sapiens |
| Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function | Homo sapiens |
| Defective homologous recombination repair (HRR) due to BRCA1 loss of function | Homo sapiens |
| G2/M DNA damage checkpoint | Homo sapiens |
| HDR through Homologous Recombination (HRR) | Homo sapiens |
| HDR through Single Strand Annealing (SSA) | Homo sapiens |
| Homologous DNA Pairing and Strand Exchange | Homo sapiens |
| Impaired BRCA2 binding to PALB2 | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060979 | Fanconi anemia complementation group S | |
| DOID:10283 | prostate cancer | |
| DOID:10534 | stomach cancer | |
| DOID:10763 | hypertension | |
| DOID:11054 | urinary bladder cancer | |
| DOID:1612 | breast cancer | |
| DOID:1793 | pancreatic cancer | |
| DOID:219 | colon cancer | |
| DOID:2394 | ovarian cancer | |
| DOID:3458 | breast adenocarcinoma |
