BTK (NM_000061) Human Mutant ORF Clone

CAT#: RC400929

BTK Mutant (C502X), Myc-DDK-tagged ORF clone of Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK) as transfection-ready DNA

Specifications

Product Data

• Mutation Description: C502X
• Affected Codon#: 502
• Affected NT#: 1506
• 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: 1503 bp
• Sequence Data:
  ORF Nucleotide Sequence

  >RC400929 representing NM_000061
  Red=Cloning site Blue=ORF Green=Tags(s)
  
  TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC
  GCCGCGATCGCC
  
  ATGGCCGCAGTGATTCTGGAGAGCATCTTTCTGAAGCGATCCCAACAGAAAAAGAAAACATCACCTCTAA
  ACTTCAAGAAGCGCCTGTTTCTCTTGACCGTGCACAAACTCTCCTACTATGAGTATGACTTTGAACGTGG
  GAGAAGAGGCAGTAAGAAGGGTTCAATAGATGTTGAGAAGATCACTTGTGTTGAAACAGTGGTTCCTGAA
  AAAAATCCTCCTCCAGAAAGACAGATTCCGAGAAGAGGTGAAGAGTCCAGTGAAATGGAGCAAATTTCAA
  TCATTGAAAGGTTCCCTTATCCCTTCCAGGTTGTATATGATGAAGGGCCTCTCTACGTCTTCTCCCCAAC
  TGAAGAACTAAGGAAGCGGTGGATTCACCAGCTCAAAAACGTAATCCGGTACAACAGTGATCTGGTTCAG
  AAATATCACCCTTGCTTCTGGATCGATGGGCAGTATCTCTGCTGCTCTCAGACAGCCAAAAATGCTATGG
  GCTGCCAAATTTTGGAGAACAGGAATGGAAGCTTAAAACCTGGGAGTTCTCACCGGAAGACAAAAAAGCC
  TCTTCCCCCAACGCCTGAGGAGGACCAGATCTTGAAAAAGCCACTACCGCCTGAGCCAGCAGCAGCACCA
  GTCTCCACAAGTGAGCTGAAAAAGGTTGTGGCCCTTTATGATTACATGCCAATGAATGCAAATGATCTAC
  AGCTGCGGAAGGGTGATGAATATTTTATCTTGGAGGAAAGCAACTTACCATGGTGGAGAGCACGAGATAA
  AAATGGGCAGGAAGGCTACATTCCTAGTAACTATGTCACTGAAGCAGAAGACTCCATAGAAATGTATGAG
  TGGTATTCCAAACACATGACTCGGAGTCAGGCTGAGCAACTGCTAAAGCAAGAGGGGAAAGAAGGAGGTT
  TCATTGTCAGAGACTCCAGCAAAGCTGGCAAATATACAGTGTCTGTGTTTGCTAAATCCACAGGGGACCC
  TCAAGGGGTGATACGTCATTATGTTGTGTGTTCCACACCTCAGAGCCAGTATTACCTGGCTGAGAAGCAC
  CTTTTCAGCACCATCCCTGAGCTCATTAACTACCATCAGCACAACTCTGCAGGACTCATATCCAGGCTCA
  AATATCCAGTGTCTCAACAAAACAAGAATGCACCTTCCACTGCAGGCCTGGGATACGGATCATGGGAAAT
  TGATCCAAAGGACCTGACCTTCTTGAAGGAGCTGGGGACTGGACAATTTGGGGTAGTGAAGTATGGGAAA
  TGGAGAGGCCAGTACGACGTGGCCATCAAGATGATCAAAGAAGGCTCCATGTCTGAAGATGAATTCATTG
  AAGAAGCCAAAGTCATGATGAATCTTTCCCATGAGAAGCTGGTGCAGTTGTATGGCGTCTGCACCAAGCA
  GCGCCCCATCTTCATCATCACTGAGTACATGGCCAATGGCTGCCTCCTGAACTACCTGAGGGAGATGCGC
  CACCGCTTCCAGACTCAGCAGCTGCTAGAGATG
  
  AGCGGACCGACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCC
  TGGATTACAAGGATGACGACGA TAAGGTTTAA
  Protein Sequence

  >RC400929 representing NM_000061
  Red=Cloning site Green=Tags(s)
  
  MAAVILESIFLKRSQQKKKTSPLNFKKRLFLLTVHKLSYYEYDFERGRRGSKKGSIDVEKITCVETVVPE
  KNPPPERQIPRRGEESSEMEQISIIERFPYPFQVVYDEGPLYVFSPTEELRKRWIHQLKNVIRYNSDLVQ
  KYHPCFWIDGQYLCCSQTAKNAMGCQILENRNGSLKPGSSHRKTKKPLPPTPEEDQILKKPLPPEPAAAP
  VSTSELKKVVALYDYMPMNANDLQLRKGDEYFILEESNLPWWRARDKNGQEGYIPSNYVTEAEDSIEMYE
  WYSKHMTRSQAEQLLKQEGKEGGFIVRDSSKAGKYTVSVFAKSTGDPQGVIRHYVVCSTPQSQYYLAEKH
  LFSTIPELINYHQHNSAGLISRLKYPVSQQNKNAPSTAGLGYGSWEIDPKDLTFLKELGTGQFGVVKYGK
  WRGQYDVAIKMIKEGSMSEDEFIEEAKVMMNLSHEKLVQLYGVCTKQRPIFIITEYMANGCLLNYLREMR
  HRFQTQQLLEM
  
  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, transfection-ready dried plasmid DNA, and shipped with 2 vector sequencing primers.

Reference Data

• RefSeq: NP_000052
• RefSeq Size: 1503 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: 55.1 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]'