BRCA1 (NM_007294) Human Mutant ORF Clone

CAT#: RC402814

BRCA1 Mutant (Q12X), Myc-DDK-tagged ORF clone of Homo sapiens breast Cancer, early onset (BRCA1), transcript variant 1 as transfection-ready DNA

Specifications

Product Data

• Mutation Description: Q12X
• Affected Codon#: 12
• Affected NT#: 34
• Tag: Myc-DDK
• Effect: Breast cancer
• Symbol: BRCA1
• Synonyms: BRCAI; BRCC1; BROVCA1; FANCS; IRIS; PNCA4; PPP1R53; PSCP; RNF53
• E. coli Selection: Kanamycin (25 ug/mL)
• Mammalian Cell Selection: Neomycin
• Vector: pCMV6-Entry
• ACCN: NM_007294
• ORF Size: 33 bp
• Sequence Data:
  ORF Nucleotide Sequence

  >RC402814 representing NM_007294
  Red=Cloning site Blue=ORF Green=Tags(s)
  
  TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC
  GCCGCGATCGCC
  
  ATGGATTTATCTGCTCTTCGCGTTGAAGAAGTA
  
  AGCGGACCGACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCC
  TGGATTACAAGGATGACGACGA TAAGGTTTAA
  Protein Sequence

  >RC402814 representing NM_007294
  Red=Cloning site Green=Tags(s)
  
  MDLSALRVEEV
  
  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.
• Product Components: The ORF clone is ion-exchange column purified and shipped in a 2D barcoded Matrix tube containing 10ug of transfection-ready, dried plasmid DNA (reconstitute with 100 ul of water).

Reference Data

• RefSeq: NP_009225
• RefSeq Size: 33 bp
• RefSeq ORF: 5592 bp
• Locus ID: 672
• Cytogenetics: 17q21.31
• Domains: BRCT, RING
• Protein Families: Druggable Genome, Transcription Factors
• Protein Pathways: Ubiquitin mediated proteolysis
• MW: 1.2 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]