XPD (ERCC2) (NM_000400) Human Mutant ORF Clone

CAT#: RC402010

ERCC2 Mutant (R592P), Myc-DDK-tagged ORF clone of Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1 as transfection-ready DNA

Specifications

Product Data

• Mutation Description: R592P
• Affected Codon#: 592
• Affected NT#: 1775
• Tag: Myc-DDK
• Effect: Trihohiodysrophy
• Symbol: ERCC2
• Synonyms: COFS2; EM9; TFIIH; TTD; TTD1; XPD
• E. coli Selection: Kanamycin (25 ug/mL)
• Mammalian Cell Selection: Neomycin
• Vector: pCMV6-Entry
• ACCN: NM_000400
• ORF Size: 2280 bp
• Sequence Data:
  ORF Nucleotide Sequence

  >RC402010 representing NM_000400
  Red=Cloning site Blue=ORF Green=Tags(s)
  
  TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC
  GCCGCGATCGCC
  
  ATGAAGCTCAACGTGGACGGGCTCCTGGTCTACTTCCCGTACGACTACATCTACCCCGAGCAGTTCTCCT
  ACATGCGGGAGCTCAAACGCACGCTGGACGCCAAGGGTCATGGAGTCCTGGAGATGCCCTCAGGCACCGG
  GAAGACAGTATCCCTGTTGGCCCTGATCATGGCATACCAGAGAGCATATCCGCTGGAGGTGACCAAACTC
  ATCTACTGCTCAAGAACTGTGCCAGAGATTGAGAAGGTGATTGAAGAGCTTCGAAAGTTGCTCAACTTCT
  ATGAGAAGCAGGAGGGCGAGAAGCTGCCGTTTCTGGGACTGGCTCTGAGCTCCCGCAAAAACTTGTGTAT
  TCACCCTGAGGTGACACCCCTGCGCTTTGGGAAGGACGTCGATGGGAAATGCCACAGCCTCACAGCCTCC
  TATGTGCGGGCGCAGTACCAGCATGACACCAGCCTGCCCCACTGCCGATTCTATGAGGAATTTGATGCCC
  ATGGGCGTGAGGTGCCCCTCCCCGCTGGCATCTACAACCTGGATGACCTGAAGGCCCTGGGGCGGCGCCA
  GGGCTGGTGCCCATACTTCCTTGCTCGATACTCAATCCTGCATGCCAATGTGGTGGTTTATAGCTACCAC
  TACCTCCTGGACCCCAAGATTGCAGACCTGGTGTCCAAGGAACTGGCCCGCAAGGCCGTCGTGGTCTTCG
  ACGAGGCCCACAACATTGACAACGTCTGCATCGACTCCATGAGCGTCAACCTCACCCGCCGGACCCTTGA
  CCGGTGCCAGGGCAACCTGGAGACCCTGCAGAAGACGGTGCTCAGGATCAAAGAGACAGACGAGCAGCGC
  CTGCGGGACGAGTACCGGCGTCTGGTGGAGGGGCTGCGGGAGGCCAGCGCCGCCCGGGAGACGGACGCCC
  ACCTGGCCAACCCCGTGCTGCCCGACGAAGTGCTGCAGGAGGCAGTGCCTGGCTCCATCCGCACGGCCGA
  GCATTTCCTGGGCTTCCTGAGGCGGCTGCTGGAGTACGTGAAGTGGCGGCTGCGTGTGCAGCATGTGGTG
  CAGGAGAGCCCGCCCGCCTTCCTGAGCGGCCTGGCCCAGCGCGTGTGCATCCAGCGCAAGCCCCTCAGAT
  TCTGTGCTGAACGCCTCCGGTCCCTGCTGCATACTCTGGAGATCACCGACCTTGCTGACTTCTCCCCGCT
  CACCCTCCTTGCTAACTTTGCCACCCTTGTCAGCACCTACGCCAAAGGCTTCACCATCATCATCGAGCCC
  TTTGACGACAGAACCCCGACCATTGCCAACCCCATCCTGCACTTCAGCTGCATGGACGCCTCGCTGGCCA
  TCAAACCCGTATTTGAGCGTTTCCAGTCTGTCATCATCACATCTGGGACACTGTCCCCGCTGGACATCTA
  CCCCAAGATCCTGGACTTCCACCCCGTCACCATGGCAACCTTCACCATGACGCTGGCACGGGTCTGCCTC
  TGCCCTATGATCATCGGCCGTGGCAATGACCAGGTGGCCATCAGCTCCAAATTTGAGACCCGGGAGGATA
  TTGCTGTGATCCGGAACTATGGGAACCTCCTGCTGGAGATGTCCGCTGTGGTCCCTGATGGCATCGTGGC
  CTTCTTCACCAGCTACCAGTACATGGAGAGCACCGTGGCCTCCTGGTATGAGCAGGGGATCCTTGAGAAC
  ATCCAGAGGAACAAGCTGCTCTTTATTGAGACCCAGGATGGTGCCGAAACCAGTGTCGCCCTGGAGAAGT
  ACCAGGAGGCCTGCGAGAATGGCCCCGGGGCCATCCTGCTGTCAGTGGCCCGGGGCAAAGTGTCCGAGGG
  AATCGACTTTGTGCACCACTACGGGCGGGCCGTCATCATGTTTGGCGTCCCCTACGTCTACACACAGAGC
  CGCATTCTCAAGGCGCGGCTGGAATACCTGCGGGACCAGTTCCAGATTCGTGAGAATGACTTTCTTACCT
  TCGATGCCATGCGCCACGCGGCCCAGTGTGTGGGTCGGGCCATCAGGGGCAAGACGGACTACGGCCTCAT
  GGTCTTTGCCGACAAGCGGTTTGCCCGTGGGGACAAGCGGGGGAAGCTGCCCCGCTGGATCCAGGAGCAC
  CTCACAGATGCCAACCTCAACCTGACCGTGGACGAGGGTGTCCAGGTGGCCAAGTACTTCCTGCGGCAGA
  TGGCACAGCCCTTCCACCGGGAGGATCAGCTGGGCCTGTCCCTGCTCAGCCTGGAGCAGCTAGAATCAGA
  GGAGACGCTGAAGAGGATAGAGCAGATTGCTCAGCAGCTC
  
  AGCGGACCGACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCC
  TGGATTACAAGGATGACGACGA TAAGGTTTAA
  Protein Sequence

  >RC402010 representing NM_000400
  Red=Cloning site Green=Tags(s)
  
  MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKGHGVLEMPSGTGKTVSLLALIMAYQRAYPLEVTKL
  IYCSRTVPEIEKVIEELRKLLNFYEKQEGEKLPFLGLALSSRKNLCIHPEVTPLRFGKDVDGKCHSLTAS
  YVRAQYQHDTSLPHCRFYEEFDAHGREVPLPAGIYNLDDLKALGRRQGWCPYFLARYSILHANVVVYSYH
  YLLDPKIADLVSKELARKAVVVFDEAHNIDNVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKETDEQR
  LRDEYRRLVEGLREASAARETDAHLANPVLPDEVLQEAVPGSIRTAEHFLGFLRRLLEYVKWRLRVQHVV
  QESPPAFLSGLAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLLANFATLVSTYAKGFTIIIEP
  FDDRTPTIANPILHFSCMDASLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMATFTMTLARVCL
  CPMIIGRGNDQVAISSKFETREDIAVIRNYGNLLLEMSAVVPDGIVAFFTSYQYMESTVASWYEQGILEN
  IQRNKLLFIETQDGAETSVALEKYQEACENGPGAILLSVARGKVSEGIDFVHHYGRAVIMFGVPYVYTQS
  RILKARLEYLRDQFQIRENDFLTFDAMRHAAQCVGRAIRGKTDYGLMVFADKRFARGDKRGKLPRWIQEH
  LTDANLNLTVDEGVQVAKYFLRQMAQPFHREDQLGLSLLSLEQLESEETLKRIEQIAQQL
  
  SGPTRTRRLEQKLISEEDLAANDILDYKDDDDKV
• Restriction Sites: SgfI-MluI Cloning Scheme for this gene
• OTI Disclaimer: 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_000391
• RefSeq Size: 2280 bp
• RefSeq ORF: 2283 bp
• Locus ID: 2068
• Cytogenetics: 19q13.32
• Domains: DEXDc2, HELICc2
• Protein Families: Druggable Genome, Transcription Factors
• Protein Pathways: Nucleotide excision repair
• MW: 83.6 kDa
• Gene Summary: The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]