CKDdb-logoCKDdb - Molecule ID A1392

geneBRCA1, RNF53
nameBreast cancer type 1 susceptibility protein
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
BRCA1_HUMANP38398ENSG00000012048672Hs.194143113705, 114480, 167000, 604370, 614320

Functions and classifications

GOC:BRCA1-A complex, C:BRCA1-BARD1 complex, C:chromosome, C:gamma-tubulin ring complex, C:nucleoplasm, C:plasma membrane, C:ribonucleoprotein complex, C:ruffle, F:androgen receptor binding, F:RNA binding, F:transcription coactivator activity, F:transcription regulatory region DNA binding, F:tubulin binding, F:ubiquitin-protein ligase activity, F:zinc ion binding, P:androgen receptor signaling pathway, P:cellular response to indole-3-methanol, P:chromosome segregation, P:DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator, P:double-strand break repair via homologous recombination, P:fatty acid biosynthetic process, P:G2 DNA damage checkpoint, P:intrinsic apoptotic signaling pathway in response to DNA damage, P:negative regulation of centriole replication, P:negative regulation of fatty acid biosynthetic process, P:negative regulation of histone H3-K9 methylation, P:negative regulation of transcription, DNA-templated, P:positive regulation of cell cycle arrest, P:positive regulation of DNA repair, P:positive regulation of histone H3-K4 methylation, P:positive regulation of histone H3-K9 acetylation, P:positive regulation of histone H4-K16 acetylation, P:positive regulation of histone H4-K20 methylation, P:positive regulation of protein ubiquitination, P:positive regulation of transcription from RNA polymerase II promoter, P:postreplication repair, P:protein autoubiquitination, P:protein K6-linked ubiquitination, P:regulation of apoptotic process, P:regulation of cell motility, P:regulation of cell proliferation, P:regulation of transcription from RNA polymerase III promoter, P:response to estrogen, P:response to ionizing radiation, P:substrate adhesion-dependent cell spreading, C:nucleus, F:DNA binding, P:DNA repair, P:protein ubiquitination, C:condensed nuclear chromosome, C:cytoplasm, F:damaged DNA binding, P:cellular response to DNA damage stimulus, P:centrosome cycle, P:chordate embryonic development, P:DNA replication, P:dosage compensation by inactivation of X chromosome, P:negative regulation of histone acetylation, P:negative regulation of histone H3-K4 methylation, P:positive regulation of histone H3-K9 methylation, P:regulation of DNA methylation, P:regulation of gene expression by genetic imprinting, P:cell cycle checkpoint, F:metal ion binding, P:cell cycle, P:G2/M transition DNA damage checkpoint, P:negative regulation of transcription, DNA-dependent, P:response to estrogen stimulus, C:mitochondrial matrix, P:brain development, P:response to estradiol stimulus, P:response to nutrient, F:ligase activity, P:metabolic process
UniProt3D-structure, Acetylation, Alternative initiation, Alternative splicing, Cell cycle, Chromosome, Complete proteome, Cytoplasm, Direct protein sequencing, Disease mutation, DNA damage, DNA recombination, DNA repair, DNA-binding, Fatty acid biosynthesis, Fatty acid metabolism, Ligase, Lipid biosynthesis, Lipid metabolism, Metal-binding, Nucleus, Phosphoprotein, Polymorphism, Reference proteome, Repeat, Tumor suppressor, Ubl conjugation, Ubl conjugation pathway, Zinc, Zinc-finger
PADBenzyme, enzymatic properties

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valueDetectionPubMed/DOI
Exp19099603cMus musculus6kidneywholePolycystic_Kidney_Disease (Autosomal Dominant Polycystic kidney disease)5.470.04cDNA microarray19099603
Exp19698090bHomo sapiens25bloodmononuclear cellsDialysis (hemodialysis)0.490.0374RNA microarray19698090
Exp24477687Mus musculus kidneywholeIRI (ischemia-reperfusion injury)1.890.0699RT-PCR24477687
Exp26317775aHomo sapiens53kidneybiopsy specimensChronic_Renal_Insufficiency (CKD)0.464.45E-04RNA microarray26317775

Compile date 08-10-2018© iMODE-CKD consortium