BTK (NM_000061) Human Mutant ORF Clone

CAT#: RC400789

BTK Mutant (Y39X), Myc-DDK-tagged ORF clone of Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK) as transfection-ready DNA

Specifications

Product Data

• Mutation Description: Y39X
• Affected Codon#: 39
• Affected NT#: 117
• Tag: Myc-DDK
• Effect: Ammlobulinemi
• Symbol: BTK
• Synonyms: AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1; XLA
• E. coli Selection: Kanamycin (25 ug/mL)
• Mammalian Cell Selection: Neomycin
• Vector: pCMV6-Entry
• ACCN: NM_000061
• ORF Size: 114 bp
• Sequence Data:
  ORF Nucleotide Sequence

  >RC400789 representing NM_000061
  Red=Cloning site Blue=ORF Green=Tags(s)
  
  TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC
  GCCGCGATCGCC
  
  ATGGCCGCAGTGATTCTGGAGAGCATCTTTCTGAAGCGATCCCAACAGAAAAAGAAAACATCACCTCTAA
  ACTTCAAGAAGCGCCTGTTTCTCTTGACCGTGCACAAACTCTCC
  
  AGCGGACCGACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCC
  TGGATTACAAGGATGACGACGA TAAGGTTTAA
  Protein Sequence

  >RC400789 representing NM_000061
  Red=Cloning site Green=Tags(s)
  
  MAAVILESIFLKRSQQKKKTSPLNFKKRLFLLTVHKLS
  
  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_000052
• RefSeq Size: 114 bp
• RefSeq ORF: 1980 bp
• Locus ID: 695
• Cytogenetics: Xq22.1
• Domains: pkinase, SH2, TyrKc, SH3, BTK, PH, S_TKc
• Protein Families: Druggable Genome, Protein Kinase
• Protein Pathways: B cell receptor signaling pathway, Fc epsilon RI signaling pathway, Primary immunodeficiency
• MW: 4.2 kDa
• Gene Summary: The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]