Immunogen sequence: MSDQQLDCAL DLMRRLPPQQ IEKNLSDLID LVPSLCEDLL SSVDQPLKIA RDKVVGKDYL LCDYNRDGDS YRSPWSNKYD PPLEDGAMPS ARLRKLEVEA NNAFDQYRDL YFEGGVSSVY LWDLDHGFAG VILIKKAGDG SKKIKGCWDS IHVVEVQEKS SGRTAHYKLT STVMLWLQTN KSGSGTMNLG GSLTRQMEKD ETVSDCSPHI ANIGRLVEDM ENKIRSTLNE IYFGKTKDIV NGLRSVQTFA DKSKQEALKN DLVEALKRKQ QC; Positive Samples: A-431, THP-1, HeLa, Mouse brain, Mouse testis, Mouse spleen, Rat small intestine; Cellular Location: Cytoplasm, cytoskeleton, myofibril, sarcomere
BRCA1 (breast and ovarian cancer susceptibility protein 1) is a nuclear phosphoprotein that plays a role in maintaining genomic stability and acts as a tumor suppressor in combination with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as BASC (for BRCA1 associated genome surveillance complex). BRCA1 associates with RNA polymerase II, and through the C terminal domain, also interacts with histone deacetylase complex. The BRCA1 protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in the BRCA1 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.
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Protein Aliases: capping protein (actin filament) muscle Z-line, beta; capping protein beta 1; CapZ beta; F-actin capping protein beta subunit; F-actin-capping protein subunit beta
Gene Aliases: 1700120C01Rik; AI325129; CAPB; CAPPB; Cappb1; CAPZ; CAPZB; CPB1; CPB2; CPbeat2; CPbeta1; CPbeta2