Structural and functional characterization of BAP1 human protein
Journal Title: International Journal of Life Science - Year 2018, Vol 6, Issue 4
Abstract
Cancer is a deadly disease in humans and arises from uncontrolled cell division. Cancer are broadly therefore, categorized into two types: primary cancers (in the organ or tissue where cancer originated) and secondary cancers (metastatic tumor). In 1990, the first breast cancer susceptibility gene BRCA1 was identified on chromosome 17q12-21 by linkage analysis of multiple families affected by early onset breast and ovarian cancer. BRCA1 is large spread over 80 kb genomic DNA composed of 24 exons, 22 codings and 2 non-coding exons that are transcribed into a 7.8 kb mRNA encodes a protein containing 1863 amino acids. The approximate molecular mass of the BRAC1 protein is 220 kDa. The BRCA1 gene bears no homology with other genes, with the exception of a RING finger motif at the amino-terminal end. In other proteins such a motif has been shown to interact with nucleic acids and to from protein complexes, suggesting a role of BRCA1 in transcription. Nuclear localization sequence in exon 11, and a conserved acidic carboxy terminus, the BRCT (BRCA1 carboxyl terminal) domain. Till date, more than 800 different mutations mostly frame shift mutations in the BRCA1 gene have been reported. BRCA1 gene contains N-terminal RING finger domain and two C-terminal BRCT (BRCA1-C-Terminal) domain, both involved in protein-protein interactions. Exon 11 of BRCA1 gene contains over 60% of protein and encodes two putative localization signals, also contain a domain that interacts with RAD51, a homology of E. Coli rec. a involved in DNA damage repair. BRACA1 was associated and co-purified with RNA polymerase complex, and interacts with RNA helicase in a transcription Germline mutation in BRCA1 has been detected in approximately 80-90% of familial breast/ovarian cancer and about 45-50% of familial breast cancer alone.
Authors and Affiliations
Jyoti Rawal, Rekha Sharma, Priyal Sharma
Keywords
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