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- Table of Contents
3 Citations 20 Q&As
1 Citations 15 Q&As
1 Citations 3 Q&As
Facts about Breast cancer type 1 susceptibility protein.
The BRCA1-BARD1 heterodimer coordinates a wide range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Required for normal cell cycle progression from G2 into mitosis.
Human | |
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Gene Name: | BRCA1 |
Uniprot: | P38398 |
Entrez: | 672 |
Belongs to: |
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No superfamily |
BRCA1; BRCAI; breast and ovarian cancer susceptibility protein 1; breast and ovarian cancer sususceptibility protein; breast cancer 1, early onset; breast cancer type 1 susceptibility protein; EC 6.3.2; EC 6.3.2.-; IRIS; PNCA4; PSCP; subunit 1
Mass (kDA):
207.721 kDA
Human | |
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Location: | 17q21.31 |
Sequence: | 17; NC_000017.11 (43044295..43125364, complement) |
Isoform 1 and isoform 3 are widely expressed. Isoform 3 is reduced or absent in several breast and ovarian cancer cell lines.
Nucleus. Chromosome. Cytoplasm. Localizes at sites of DNA damage at double-strand breaks (DSBs); recruitment to DNA damage sites is mediated by ABRAXAS1 and the BRCA1-A complex (PubMed:26778126). Translocated to the cytoplasm during UV-induced apoptosis (PubMed:20160719).; [Isoform 3]: Cytoplasm.; [Isoform 5]: Cytoplasm.
PMID: 7545954 by Miki Y., et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.
PMID: 8938427 by Smith T.M., et al. Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1.
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