human BRCA1 shRNA silencing AAV

BRCA1/BRCA2-containing complex, subunit 1; BRCAI; BRCC1; breast and ovarian cancer susceptibility protein 1; breast cancer 1, early onset; breast cancer type 1 susceptibility protein; BROVCA1; early onset breast cancer 1; Fanconi anemia, complementation group S; FANCS; IRIS; PNCA4; PPP1R53; protein phosphatase 1, regulatory subunit 53; PSCP; RING finger protein 53; RING-type E3 ubiquitin transferase BRCA1; RNF53

BRCA1 was identified as a gene with germline mutations that predisposes women to breast and ovarian cancer. The BRCA1 tumor suppressor is a large protein that has been demonstrated to interact with a multitude of proteins involved in the DNA damage response and cell cycle checkpoints to maintain genomic integrity. BRCA1 functions by regulating the activities of its interacting proteins which mediate processes such as gene transcription, gene repression, protein phosphorylation, and ubiquitination.

BRCA1 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). BRCA1 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.

672

BRCA1, DNA repair associated

BRCA1, DNA repair associated

BRCA1

HGNC:1100

9606.0

4065

4065 bp

Breast cancer type 1 susceptibility protein

NM_007294

NM_007300, NM_007299, NM_007298, NM_007297, NM_007294, BC115037, BC072418,

Aging,Apoptosis,Breast Cancer,Cancer,Cell Cycle,DNA Damage/Repair,Estrogen Signaling,Fanconi anemia,Glioma,Histone Modification,Homologous Recombination,Kinase/Phosphatase,Meiosis,Metabolism/Metabolic Process,MicroRNAs in Cancer,Neurobiology,Nuclear Receptor Coactivators,Phospho-specific,PI3K/Akt Signaling,Prostate Cancer,Replication,RNA Binding,Signal Transduction,TGF-beta Signaling,Transcription Factor/Regulator,Tumor Suppressors/Oncoproteins,Ubiquitination,Zinc-finger

cancer,cell_biology,cell_cycle,developmental_biology,genetics,immunology,metabolism,neurobiology,signal_transduction,transcription_translation

human

BRCA1 was identified as a gene with germline mutations that predisposes women to breast and ovarian cancer. The BRCA1 tumor suppressor is a large protein that has been demonstrated to interact with a multitude of proteins involved in the DNA damage response and cell cycle checkpoints to maintain genomic integrity. BRCA1 functions by regulating the activities of its interacting proteins which mediate processes such as gene transcription, gene repression, protein phosphorylation, and ubiquitination.

Hs.194143

P38398