DKC1 (NM_001288747) Human Untagged Clone

CAT#: SC336012

DKC1 (untagged) - Human dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 3

Specifications

Product Data

• Type: Human Untagged Clone
• Tag: Tag Free
• Symbol: DKC1
• Synonyms: CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
• Vector: pCMV6-Entry
• E. coli Selection: Kanamycin (25 ug/mL)
• Mammalian Cell Selection: Neomycin
• Sequence Data:
  Fully Sequenced ORF

  >NCBI ORF sequence for NM_001288747, the custom clone sequence may differ by one or more nucleotides
  
  
  ATGGCGGATGCGGAAGTAATTATTTTGCCAAAGAAACATAAGAAGAAAAAGGAGCGGAAGTCATTGCCAG
  AAGAAGATGTAGCCGAAATACAACACGCTGAAGAATTTCTTATCAAACCTGAATCCAAAGTTGCTAAGTT
  GGACACGTCTCAGTGGCCCCTTTTGCTAAAGAATTTTGATAAGCTGAATGTAAGGACAACACACTATACA
  CCTCTTGCATGTGGTTCAAATCCTCTGAAGAGAGAGATTGGGGACTATATCAGGACAGGTTTCATTAATC
  TTGACAAGCCCTCTAACCCCTCTTCCCATGAGGTGGTAGCCTGGATTCGACGGATACTTCGGGTGGAGAA
  GACAGGGCACAGTGGTACTCTGGATCCCAAGGTGACTGGTTGTTTAATCGTGTGCATAGAACGAGCCACT
  CGCTTGGTGAAGTCACAACAGAGTGCAGGCAAAGAGTATGTGGGGATTGTCCGGCTGCACAATGCTATTG
  AAGGGGGGACCCAGCTTTCTAGGGCCCTAGAAACTCTGACAGGTGCCTTATTCCAGCGACCCCCACTTAT
  TGCTGCAGTAAAGAGGCAGCTCCGAGTGAGGACCATCTACGAGAGCAAAATGATTGAATACGATCCTGAA
  AGAAGATTAGGAATCTTTTGGGTGAGTTGTGAGGCTGGCACCTACATTCGGACATTATGTGTGCACCTTG
  GTTTGTTATTGGGAGTTGGTGGTCAGATGCAGGAGCTTCGGAGGGTTCGTTCTGGAGTCATGAGTGAAAA
  GGACCACATGGTGACAATGCATGATGTGCTTGATGCTCAGTGGCTGTATGATAACCACAAGGATGAGAGT
  TACCTGCGGCGAGTTGTTTACCCTTTGGAAAAGCTGTTGACATCTCATAAACGGCTGGTTATGAAAGACA
  GTGCAGTAAATGCCATCTGCTATGGGGCCAAGATTATGCTTCCAGGTGTTCTTCGATATGAGGACGGCAT
  TGAGGTCAATCAGGAGATTGTGGTTATCACCACCAAAGGAGAAGCAATCTGCATGGCTATTGCATTAATG
  ACCACAGCGGTCATCTCTACCTGCGACCATGGTATAGTAGCCAAGATCAAGAGAGTGATCATGGAGAGAG
  ACACTTACCCTCGGAAGTGGGGTTTAGGTCCAAAGGCAAGTCAGAAGAAGCTGATGATCAAGCAGGGCCT
  TCTGGACAAGCATGGGAAGCCCACAGACAGCACACCTGCCACCTGGAAGCAGGAGTATGTTGACTACAGG
  TGA
  
  
• Restriction Sites: SgfI-MluI
• ACCN: NM_001288747
• OTI Disclaimer: Our molecular clone sequence data has been matched to the reference identifier above as a point of reference. Note that the complete sequence of our molecular clones may differ from the sequence published for this corresponding reference, e.g., by representing an alternative RNA splicing form or single nucleotide polymorphism (SNP).
• Product Components: The cDNA clone is shipped in a 2-D bar-coded Matrix tube as dried plasmid DNA. The package also includes 100 pmols of both the corresponding 5' and 3' vector primers in separate vials. Every lot of primer is tested to provide clean sequencing of OriGene TrueClones.
• Reconstitution: 1. Centrifuge at 5,000xg for 5min.
  2. Carefully open the tube and add 100ul of sterile water to dissolve the DNA.
  3. Close the tube and incubate for 10 minutes at room temperature.
  4. Briefly vortex the tube and then do a quick spin (less than 5000xg) to concentrate the liquid at the bottom.
  5. Store the suspended plasmid at -20°C. The DNA is stable for at least one year from date of shipping when stored at -20°C.

Reference Data

• RefSeq: NM_001288747.1, NP_001275676.1
• RefSeq Size: 3097 bp
• RefSeq ORF: 1263 bp
• Locus ID: 1736
• Cytogenetics: Xq28
• Protein Families: Druggable Genome
• Gene Summary: 'This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]'
  Transcript Variant: This variant (3) uses an alternate 3' exon structure, which results in an early stop codon, compared to variant 1. The resulting protein (isoform 3) has a distinct C-terminus, compared to isoform 1 (PMID: 21820037).