lmmol · Proteins

Breast cancer type 1 susceptibility protein

UniProt P38398 Organism Homo sapiens Gene BRCA1, RNF53 EC 2.3.2.27

Also known as: BRCA1, RNF53

Function

E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Regulates centrosomal microtubule nucleation. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. Required for FANCD2 targeting to sites of DNA damage. Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation. Contributes to homologous recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks. Component of the BRCA1-RBBP8 complex which regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage via BRCA1-mediated ubiquitination of RBBP8. Acts as a transcriptional activator.

Classification

Family (Pfam)
PF00533 BRCT, PF12820 BRCT_assoc, PF00097 zf-C3HC4
InterPro
BRCA1, BRCA1-associated, BRCA1_serine_dom, BRCT_dom, BRCT_dom_sf, Znf_C3HC4_RING-type, Znf_RING, Znf_RING/FYVE/PHD, Znf_RING_CS
Functional cluster
Zinc-Finger & Chromatin Regulatory Proteins

Experimental structures · PDB · 33

A predicted model is available from AlphaFold.

Gene Ontology · 71

Disease associations

Neighborhood · nearest proteins

BRCA1BRCA1BRCA1BRCA1BRCA2BARD1ACAC
Nearest neighbours of Breast cancer type 1 susceptibility protein: 3 by sequence/function similarity (left); 3 co-cited in the literature (right).

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Literature · 106 cited papers

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