Treacher Collins syndrome protein (TCOF1) (NM_001135244) Human Untagged Clone

CAT#: SC326380

TCOF1 (untagged)-Human Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 5

Specifications

Product Data

• Type: Human Untagged Clone
• Tag: Tag Free
• Symbol: TCOF1
• Synonyms: MFD1; TCS; TCS1; treacle
• Vector: pCMV6 series
• Sequence Data:
  Fully Sequenced ORF

  >NCBI ORF sequence for NM_001135244, the custom clone sequence may differ by one or more nucleotides
  ATGGCCGAGGCCAGGAAGCGGCGGGAGCTACTTCCCCTGATCTACCACCATCTGCTGCGG
  GCTGGCTATGTGCGTGCGGCGCGGGAAGTGAAGGAGCAGAGCGGCCAGAAGTGTTTCCTG
  GCTCAGCCCGTAACCCTTCTGGACATCTATACACACTGGCAACAAACCTCAGAGCTTGGT
  CGGAAGCGGAAGGCAGAGGAAGATGCGGCACTGCAAGCTAAGAAAACCCGTGTGTCAGAC
  CCCATCAGCACCTCGGAGAGCTCGGAAGAGGAGGAAGAAGCAGAAGCCGAAACCGCCAAA
  GCCACCCCAAGACTAGCATCTACCAACTCCTCAGTCCTGGGGGCGGACTTGCCATCAAGC
  ATGAAAGAAAAAGCCAAGGCAGAGACAGAGAAAGCTGGCAAGACTGGGAATTCCATGCCA
  CACCCTGCCACTGGGAAGACGGTGGCCAACCTTCTTTCTGGGAAGTCTCCCAGGAAGTCA
  GCAGAGCCCTCAGCAAATACTACGTTGGTCTCAGAAACTGAGGAGGAGGGCAGCGTCCCG
  GCCTTTGGAGCTGCTGCCAAGCCTGGGATGGTGTCAGCGGGCCAGGCCGACAGCTCCAGC
  GAGGACACCTCCAGCTCCAGTGATGAGACAGACGTGGAGGGGAAACCCTCAGTAAAACCA
  GCCCAGGTCAAAGCCTCATCAGTTTCTACTAAGGAGTCTCCAGCAAGAAAGGCGGCCCCA
  GCCCCTGGGAAGGTGGGGGATGTGACACCCCAGGTCAAAGGAGGGGCCCTGCCCCCAGCC
  AAGAGGGCCAAGAAGCCAGAAGAGGAGTCAGAGAGTAGTGAGGAGGGATCTGAAAGTGAG
  GAGGAGGCCCCTGCAGGGACACGAAGCCAGGTAAAGGCCTCTGAAAAAATTCTCCAGGTC
  AGAGCTGCCTCAGCCCCTGCCAAGGGGACCCCTGGGAAAGGGGCTACCCCAGCACCCCCT
  GGGAAGGCAGGGGCTGTAGCCTCCCAGACCAAGGCAGGGAAGCCAGAGGAGGACTCAGAG
  AGCAGCAGCGAGGAGTCATCTGACAGTGAGGAGGAGACGCCAGCTGCCAAGGCCCTGCTT
  CAGGCGAAGGCCTCAGGAAAAACCTCTCAGGTCGGAGCTGCCTCAGCCCCTGCCAAGGAG
  TCCCCCAGGAAAGGAGCTGCCCCAGCGCCCCCTGGGAAGACAGGGCCTGCAGTTGCCAAG
  GCCCAGGCGGGGAAGCGGGAGGAGGACTCGCAGAGCAGCAGCGAGGAATCGGACAGTGAG
  GAGGAGGCGCCTGCTCAGGCGAAGCCTTCAGGGAAGGCCCCCCAGGTCAGAGCCGCCTCG
  GCCCCTGCCAAGGAGTCCCCCAGGAAAGGGGCTGCCCCAGCACCTCCTAGGAAAACAGGG
  CCTGCAGCCGCCCAGGTCCAGGTGGGGAAGCAGGAGGAGGACTCAAGAAGCAGCAGCGAG
  GAGTCAGACAGTGACAGAGAGGCACTGGCAGCCATGAATGCAGCTCAGGTGAAGCCCTTG
  GGGAAAAGCCCCCAGGTGAAACCTGCCTCTACCATGGGCATGGGGCCCTTGGGGAAAGGC
  GCCGGCCCAGTGCCACCCGGGAAGGTGGGGCCTGCAACCCCCTCAGCCCAGGTGGGGAAG
  TGGGAGGAGGACTCAGAGAGCAGTAGTGAGGAGTCATCAGACAGCAGTGATGGAGAGGTG
  CCCACAGCTGTGGCCCCGGCTCAGGAAAAGTCCTTGGGGAACATCCTCCAGGCCAAACCC
  ACCTCCAGTCCTGCCAAGGGGCCCCCTCAGAAGGCAGGGCCTGTAGCCGTCCAGGTCAAG
  GCTGAAAAGCCCATGGACAACTCGGAGAGCAGCGAGGAGTCATCGGACAGTGCGGACAGT
  GAGGAGGCACCAGCAGCCATGACTGCAGCTCAGGCAAAACCAGCTCTGAAAATTCCTCAG
  ACCAAGGCCTGCCCAAAGAAAACCAATACCACTGCATCTGCCAAGGTCGCCCCTGTGCGA
  GTGGGCACCCAAGCCCCCCGGAAAGCAGGAACTGCGACTTCTCCAGCAGGCTCATCCCCA
  GCTGTGGCTGGGGGCACCCAGAGACCAGCAGAGGATTCTTCAAGCAGTGAGGAATCAGAT
  AGTGAGGAAGAGAAGACAGGTCTTGCAGTAACCGTGGGACAGGCAAAGTCTGTGGGGAAA
  GGCCTCCAGGTGAAAGCAGCCTCAGTGCCTGTCAAGGGGTCCTTGGGGCAAGGGACTGCT
  CCAGTACTCCCTGGGAAGACGGGGCCTACAGTCACCCAGGTGAAAGCTGAAAAGCAGGAA
  GACTCTGAGAGCAGTGAGGAGGAATCAGACAGTGAGGAAGCAGCTGCATCTCCAGCACAG
  GTGAAAACCTCAGTAAAGAAAACCCAGGCCAAAGCCAACCCAGCTGCCGCCAGAGCACCT
  TCAGCAAAAGGGACAATTTCAGCCCCTGGAAAAGTTGTCACTGCAGCTGCTCAAGCCAAG
  CAGAGGTCTCCATCCAAGGTGAAGCCACCAGTGAGAAACCCCCAGAACAGTACCGTCTTG
  GCGAGGGGCCCAGCATCTGTGCCATCTGTGGGGAAGGCCGTGGCTACAGCAGCTCAGGCC
  CAGACAGGGCCAGAGGAGGACTCAGGGAGCAGTGAGGAGGAGTCAGACAGTGAGGAGGAG
  GCGGAGACGCTGGCTCAGGTGAAGCCTTCAGGGAAGACCCACCAGATCAGAGCTGCCTTG
  GCTCCTGCCAAGGAGTCCCCCAGGAAAGGGGCTGCCCCAACACCTCCTGGGAAGACAGGG
  CCTTCGGCTGCCCAGGCAGGGAAGCAGGATGACTCAGGGAGCAGCAGCGAGGAATCAGAC
  AGTGATGGGGAGGCACCGGCAGCTGTGACCTCTGCCCAGGTGATTAAACCCCCTCTGATT
  TTTGTCGACCCTAATCGTAGTCCAGCTGGCCCAGCTGCTACACCCGCACAAGCCCAGGCT
  GCAAGCACCCCGAGGAAGGCCCGAGCCTCGGAGAGCACAGCCAGGAGCTCCTCCTCCGAG
  AGCGAGGATGAGGACGTGATCCCCGCTACACAGTGCTTGACTCCTGGCATCAGAACCAAT
  GTGGTGACCATGCCCACTGCCCACCCAAGAATAGCCCCCAAAGCCAGCATGGCTGGGGCC
  AGCAGCAGCAAGGAGTCCAGTCGGATATCAGATGGCAAGAAACAGGAGGGACCAGCCACT
  CAGGTTGACAGTGCTGTGGGAACACTCCCTGCAACAAGTCCCCAGAGCACCTCCGTCCAG
  GCCAAAGGGACCAACAAGCTCAGAAAACCTAAGCTTCCTGAGGTCCAGCAGGCCACCAAA
  GCCCCTGAGAGCTCAGATGACAGTGAGGACAGCAGCGACAGTTCTTCAGGGAGTGAGGAA
  GATGGTGAAGGGCCCCAGGGGGCCAAGTCAGCCCACACGCTGGTAGGTCCCACCCCCTCC
  AGGACAGAGACCCTGGTGGAGGAGACCGCAGCAGAGTCCAGCGAGGATGATGTGGTGGCG
  CCATCCCAGTCTCTCCTCTCAGGTTATATGACCCCTGGACTAACCCCAGCCAATTCCCAG
  GCCTCAAAAGCCACTCCCAAGCTAGACTCCAGCCCCTCAGTTTCCTCTACTCTGGCCGCC
  AAAGATGACCCAGATGGCAAGCAGGAGGCAAAGCCCCAACAGGCAGCAGGCATGTTGTCC
  CCTAAAACAGGTGGAAAAGAGGCTGCTTCAGGCACCACACCTCAGAAGTCCCGGAAGCCC
  AAGAAAGGGGCTGGGAACCCCCAAGCCTCAACCCTGGCGCTGCAAAGCAACATCACCCAG
  TGCCTCCTGGGCCAACCCTGGCCCCTGAATGAGGCCCAGGTGCAGGCCTCAGTGGTGAAG
  GTCCTGACTGAGCTGCTGGAACAGGAAAGAAAGAAGGTGGTGGACACCACCAAGGAGAGC
  AGCAGGAAGGGCTGGGAGAGCCGCAAGCGGAAGCTATCGGGAGACCAGCCAGCTGCCAGG
  ACCCCCAGGAGCAAGAAGAAGAAGAAGCTGGGGGCCGGGGAAGGTGGGGAGGCCTCTGTT
  TCCCCAGAAAAGACCTCCACGACTTCCAAGGGGAAAGCAAAGAGAGACAAAGCAAGTGGT
  GATGTCAAGGAGAAGAAAGGGAAGGGGTCTCTTGGCTCCCAAGGGGCCAAGGACGAGCCA
  GAAGAGGAGCTTCAGAAGGGGATGGGGACGGTTGAAGGTGGAGATCAAAGCAACCCAAAG
  AGCAAGAAGGAGAAGAAGAAATCCGACAAGAGAAAAAAAGACAAAGAAAAAAAAGAAAAG
  AAGAAGAAAGCAAAAAAGGCCTCAACCAAAGATTCTGAGTCACCGTCCCAGAAGAAAAAG
  AAGAAAAAGAAGAAGACAGCAGAGCAGACTGTA
  
• Restriction Sites: Please inquire
• ACCN: NM_001135244
• 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).
• OTI Annotation: This TrueClone is provided through our Custom Cloning Process that includes sub-cloning into OriGene's pCMV6 vector and full sequencing to provide a non-variant match to the expected reference without frameshifts, and is delivered as lyophilized plasmid DNA.
• 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).
• 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_001135244.1, NP_001128716.1
• RefSeq Size: 5002 bp
• RefSeq ORF: 4356 bp
• Locus ID: 6949
• UniProt ID: Q13428
• Cytogenetics: 5q32-q33.1
• Protein Families: Druggable Genome, Stem cell - Pluripotency
• Gene Summary: This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
  Transcript Variant: This variant (5) lacks the alternate in-frame exon 21, also known as XIX, and uses an alternate in-frame splice site in the central coding region, compared to variant 4. The resulting isoform (e) lacks an internal segment, contains a one residue insertion, and has the same N- and C-termini, compared to isoform d.