Preferred Label : Breast Cancer Type 1 Susceptibility Protein;
NCIt synonyms : Breast-Ovarian Cancer Protein; RING Finger Protein 53; Breast Cancer 1, Early Onset Protein; BRCA1; BRCA1 Protein; EC 2.3.2.27; Fanconi Anemia, Complementation Group S; Breast and Ovarian Cancer Susceptibility Protein 1; Protein Phosphatase 1, Regulatory Subunit 53; BRCA1/BRCA2-Containing Complex, Subunit 1; EC 6.3.2.-, Formerly; RING-Type E3 Ubiquitin Transferase BRCA1;
NCIt definition : Breast cancer type 1 susceptibility protein (1863 aa, 208 kDa) is encoded by the
human BRCA1 gene. This protein plays a role in both the maintenance of DNA and the
mediation of ubiquitin E3 ligase activity.;
NCIt note : Encoded by human BRCA1 Gene (Granin Family) and expressed in proliferating cells,
1863-amino acid 190-220 kD BRCA1 phosphoprotein contains a N-terminal DNA-binding
RING finger, nuclear localization signals, an C-terminal acidic domain, and two C-terminal
BRCT domains. Phosphorylation peaks in S/M. BRCA1 is involved in cell cycle arrest
transcription, DNA repair, and recombination. CTIP/BRCA1/ZBRK1 regulates GADD45 transcription.
BRCA1 inhibits ERA transcription and triggers apoptosis through JNK/SAPK. BRCA1 is
part of the BASC DNA repair complex and the SWI/SNF complex. BRCA1 may associate with
BRCA2, BARD1 (S phase), RNA Polymerase II via RNA helicase A, and RB1, RBBP7, RBBP4,
HDAC1, and HDAC2 (via BRCT domain). CHK2 serine phosphorylates BRCA1. BRCA1 mutations
occur in breast and ovarian cancers. (fSwiss-Prot, OMIM); BRCA1, which functions as a tumor suppressor in human breast cancer cells, is a nuclear
phosphoprotein which associates with RNA polymerase II holoenzyme. Mutations in BRCA1
are predicted to be responsible for approximately 45% of inherited breast cancer and
more than 80% of inherited breast and ovarian cancer. BRCA1 may function as a transcriptional
regulator, due to an amino terminal DNA-binding ring finger motif, nuclear localization
signals, and an acidic carboxy terminal domain. BRCA1 is also a granin-like protein
that functions as a secreted growth inhibitory protein. BRCA1 may normally serve as
a negative regulator of mammary epithelial cell growth. This function is compromised
in breast cancer either by direct mutation or by alterations in gene expression. BRCA1
participates in transcription-coupled repair of oxidative DNA damage. (LocusLink);
Origin ID : C17815;
UMLS CUI : C1528558;
Currated CISMeF NLP mapping
- OMIM relation
- Semantic type(s)
- UMLS correspondences (same concept)
- concept_is_in_subset
- gene_encodes_gene_product
- gene_product_has_biochemical_function
- gene_product_has_gene_product_variant
- gene_product_has_organism_source
- gene_product_has_structural_domain_or_motif
- gene_product_is_biomarker_type
- gene_product_is_element_in_pathway
- gene_product_is_physical_part_of
- gene_product_malfunction_associated_with_disease
- gene_product_plays_role_in_biological_process
