A 7.8-kb m RNA transcript was identified in testes, thymus, breast and ovary.
There appeared to be a complex pattern of alternative splicing. (1995) found that the mouse Brca1 gene shares 75% identity of the coding region with the human sequence at the nucleotide level, whereas the predicted amino acid identity was only 58%. (1996) demonstrated that BRCA1 encodes a 190-k D protein with sequence homology and biochemical analogy to members of the granin protein family, including chromogranin A (118910), chromogranin B (118920), and secretogranin II, also known as chromogranin C (118930).
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A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships."BRCA1 plays critical roles in DNA repair, cell cycle checkpoint control, and maintenance of genomic stability.
BRCA1 forms several distinct complexes through association with different adaptor proteins, and each complex forms in a mutually exclusive manner (Wang et al., 2009). (1994) identified c DNA sequences corresponding to the BRCA1 gene by positional cloning of the region on 17q21 implicated in familial breast-ovarian cancer syndrome (604370).
The deduced 1,863-residue protein with zinc-finger domains near the N terminus.
The authors stated that as a regulated secretory protein, BRCA1 appears to function by a mechanism not previously described for tumor suppressor products.
As reviewed by Steeg (1996), granins are a family of acidic proteins that bind calcium and aggregate in its presence.
Known members of the granin family have been solely neuroendocrine or endocrine in origin; if BRCA1 is a granin it will necessarily expand the protein family boundaries.
El Shamy and Livingston (2004) identified a splice variant of BRCA1 that incorporates a unique 40-nucleotide first exon, exon 1c, that is located 24 Mb upstream of BRCA1 exons 1a and 1b.
The 3-prime end of this c DNA extends 335 nucleotides into intron 11, prompting El Shamy and Livingston (2004) to designate it IRIS for 'in-frame reading of BRCA1 intron 11 splice variant.' The deduced BRCA1-IRIS protein contains 1,399 amino acids.
In vitro transcription-translation resulted in a protein with an apparent molecular mass of about 150 k D.
Northern blot analysis of fibroblast m RNA detected BRCA1-IRIS at about 4.5 kb.