BRCA1 (NM_007294) Human Mutant ORF Clone

Specifications

Product Data
Product Name	BRCA1 (NM_007294) Human Mutant ORF Clone
Mutation Description	Q19X
Affected Codon#	19
Affected NT#	55
Nucleotide Mutation	BRCA1 Mutant (Q19X), Myc-DDK-tagged ORF clone of Homo sapiens breast Cancer, early onset (BRCA1), transcript variant 1 as transfection-ready DNA
Effect	Breast and/or ovarian cancer
Synonyms	BRCAI; BRCC1; BROVCA1; FANCS; IRIS; PNCA4; PPP1R53; PSCP; RNF53
Vector	pCMV6-Entry
Tag	Myc-DDK
ACCN	NM_007294
ORF Size	54 bp
Sequence Data	ORF Nucleotide Sequence (showhide) >RC402818 representing NM_007294 Red=Cloning site Blue=ORF Green=Tags(s) TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC GCCGCGATCGCC ATGGATTTATCTGCTCTTCGCGTTGAAGAAGTACAAAATGTCATTAATGCTATG AGCGGACCGACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCC TGGATTACAAGGATGACGACGA TAAGGTTTAA Protein Sequence (showhide) >RC402818 representing NM_007294 Red=Cloning site Green=Tags(s) MDLSALRVEEVQNVINAM SGPTRTRRLEQKLISEEDLAANDILDYKDDDDKV
Restriction Sites	SgfI-MluI      Cloning Scheme for this gene
OTI Disclaimer	Due to the inherent nature of this plasmid, standard methods to replicate additional amounts of DNA in E. coli are highly likely to result in mutations and/or rearrangements. Therefore, OriGene does not guarantee the capability to replicate this plasmid DNA. Additional amounts of DNA can be purchased from OriGene with batch-specific, full-sequence verification at a reduced cost. Please contact our customer care team at custsupport@origene.com or by calling 301.340.3188 option 3 for pricing and delivery. The molecular sequence of this clone aligns with the gene accession number as a point of reference only. However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. This clone is substantially in agreement with the reference, but a complete review of all prevailing variants is recommended prior to use. More info
OTI Annotation	This clone was engineered to express the complete ORF with an expression tag. Expression varies depending on the nature of the gene.
Reference Data
RefSeq	NP_009225
RefSeq Size	54 bp
RefSeq ORF	5592 bp
Locus ID	672
Domains	BRCT, RING
Protein Families	Druggable Genome, Transcription Factors
Protein Pathways	Ubiquitin mediated proteolysis
MW	2 kDa
Gene Summary	This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. 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 2020]

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