Search

Search for a specific protein in the Platelet Interactome


(Example: vasp)

 

Advanced Search

Get detailed protein information focusing on various characteristics and extract interaction networks

 

Legend

 

About

Go Back

Description for Protein BRCA1

breast cancer 1, early onset
178 total interacting proteins; 54 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene 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). This gene 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. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • BRCT: breast cancer carboxy-terminal domain
  • NES: Nuclear Export Signal
  • RING: Ring finger
  • NLS: Nuclear localization signal
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K10605
    KEGG - Pathway(s):
    hsa04120
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Breast cancer 1 early onset isoform BRCA1 delta2-10; Breast cancer 1 early onset isoform BRCA1-delta9-11; Breast cancer 1 early onset isoform BRCA1-delta14-17; Breast cancer 1 early onset isoform BRCA1 delta14-18; Breast cancer 1 early onset isoform BRCA1-delta9-10; Breast cancer 1 early onset isoform BRCA1-delta11; Breast cancer 1 early onset isoform BRCA1-delta11b; Breast cancer 1, early onset isoform 1; Breast cancer 1, early onset; BRCA1/BRCA2-containing complex, subunit 1; Breast and ovarian cancer susceptibility protein 1; Breast cancer 1 early onset isoform BRCA1-delta9-10-11b; Ring finger protein 53; IRIS
    Approved Symbol:
    BRCA1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 231
    Human (de-) phosphorylation sites: 231; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Breast cancer(Pd);
  • Breast-ovarian cancer(Pd);
  • Ovarian cancer, sporadic(Pd)
    		• Predicted Transmembrane Domains:
    00218_13(0)
    00218_12(0)
    00218_11(0)
    00218_10(0)
  • Isoform 9 : 0
  • Isoform 8 : 0
  • Isoform 7 : 0
  • Isoform 6 : 0
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00218 Entrez Gene ID: 672 OMIM ID: 113705 Swissprot Accession: Q6IN79; P38398; Q1RMC1;