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- accession：NM_007299
- 基因别名：BRCA1
- 基因描述：Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 5, mRNA.
- 载体：现货载体
- CDS区长度：2100
- 翻译后氨基酸长度：699
- TranscriptVariant：This variant (5) differs in the 5' UTR, uses two alternate in-frame splice sites in the central coding region, and lacks an alternate exon in the 3' coding region that results in a frameshift, compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.
- 基因简介：This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this 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. [provided by RefSeq, May 2009]
- 规格：10ul 质粒
CDS区参考序列： 点击查看序列翻译后氨基酸参数序列： 点击查看序列
