WHSC1 (NM_007331) Human Untagged Clone

CAT#: SC309580

WHSC1 (untagged)-Human Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 8

Specifications

Product Data

• Type: Human Untagged Clone
• Tag: Tag Free
• Symbol: NSD2
• Synonyms: KMT3F; KMT3G; MMSET; REIIBP; TRX5; WHS; WHSC1
• Vector: pCMV6 series
• Sequence Data:
  Fully Sequenced ORF

  >NCBI ORF sequence for NM_007331, the custom clone sequence may differ by one or more nucleotides
  ATGGAATTTAGCATCAAGCAGAGTCCCCTTTCTGTTCAGAGTGTTGTAAAGTGCATAAAG
  ATGAAGCAGGCACCAGAAATCCTCGGCAGTGCCAACGGGAAGACTCCGAGCTGCGAGGTG
  AACCGCGAGTGTTCTGTGTTCCTCAGCAAAGCCCAGCTCTCCAGTAGCCTGCAGGAGGGG
  GTCATGCAGAAGTTTAACGGCCACGACGCCCTGCCCTTTATTCCAGCCGACAAGCTGAAA
  GATCTTACTTCCCGGGTGTTTAATGGAGAACCCGGCGCACACGATGCCAAACTGCGTTTT
  GAGTCCCAGGAAATGAAAGGGATTGGGACACCCCCTAACACTACCCCTATCAAAAATGGC
  TCTCCAGAAATTAAGCTGAAAATCACCAAAACATACATGAATGGGAAGCCTCTCTTTGAA
  TCTTCCATTTGTGGTGACAGTGCTGCTGATGTGTCTCAGTCAGAAGAAAATGGACAAAAA
  CCAGAAAACAAGGCGAGAAGGAACAGGAAGAGGAGCATAAAATATGACTCCTTGCTGGAG
  CAGGGCCTTGTCGAAGCAGCTCTTGTGTCTAAGATCTCAAGTCCTTCAGATAAAAAGATT
  CCAGCTAAGAAAGAGTCTTGTCCAAACACTGGAAGAGACAAAGACCACCTGTTGAAATAC
  AACGTTGGTGATTTGGTGTGGTCCAAAGTGTCGGGTTACCCTTGGTGGCCTTGCATGGTT
  TCTGCAGATCCACTCCTTCACAGCTATACCAAACTTAAAGGTCAGAAAAAGAGTGCACGC
  CAGTATCACGTACAGTTCTTTGGTGACGCCCCAGAAAGAGCTTGGATATTTGAGAAGAGC
  CTCGTAGCTTTTGAAGGAGAAGGACAGTTTGAAAAATTATGCCAGGAAAGTGCCAAGCAG
  GCACCCACGAAAGCTGAGAAAATTAAGCTATTGAAACCAATTTCAGGGAAATTGAGGGCC
  CAGTGGGAAATGGGCATTGTTCAAGCAGAAGAAGCTGCAAGCATGTCAGTGGAGGAGCGG
  AAAGCCAAGTTCACCTTTCTCTATGTGGGGGACCAGCTTCATCTCAACCCTCAAGTAGCC
  AAGGAGGCTGGCATTGCTGCAGAGTCTTTGGGAGAAATGGCAGAATCCTCAGGAGTCAGT
  GAAGAAGCTGCTGAAAACCCCAAGTCTGTGAGAGAAGAGTGCATTCCCATGAAGAGAAGG
  CGGAGGGCCAAACTGTGTAGCTCTGCAGAGACCCTGGAGAGTCACCCCGACATAGGGAAG
  AGTACTCCTCAAAAGACGGCAGAGGCTGACCCCAGAAGAGGAGTAGGGTCTCCTCCTGGG
  AGGAAGAAGACCACAGTCTCCATGCCACGAAGCAGGAAGGGAGATGCAGCATCCCAGTTT
  TTGGTCTTCTGTCAAAAACACAGGGATGAGGTGGTAGCTGAGCACCCAGATGCTTCAGGT
  GAGGAGATTGAAGAGCTGCTCAGGTCACAGTGGAGTCTGCTGAGTGAGAAGCAGAGAGCA
  CGCTACAACACCAAGTTTGCCCTGGTGGCCCCTGTCCAGGCTGAAGAAGACTCTGGTAAT
  GTAAATGGGAAAAAAAGAAACCACACAAAGAGGATACAGGACCCTACAGAAGATGCTGAA
  GCTGAGGACACACCCAGGAAAAGACTCAGGACGGACAAGCACAGTCTTCGGAAGAGAGAC
  ACAATCACTGACAAAACGGCCAGAACAAGCTCTTACAAGGCCATGGAGGCAGCCTCCTCG
  CTCAAGAGCCAGGCAGCAACGAAAAATCTGTCTGATGCATGTAAACCACTGAAGAAGCGA
  AATCGGGCTTCCACGGCAGCATCTTCAGCTCTTGGGTTTAGCAAAAGTTCATCTCCTTCT
  GCATCCTTAACTGAGAATGAGGTAAAATAA
  
• Restriction Sites: Please inquire
• ACCN: NM_007331
• 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_007331.1, NP_015627.1
• RefSeq Size: 5172 bp
• RefSeq ORF: 1890 bp
• Locus ID: 7468
• UniProt ID: O96028
• Cytogenetics: 4p16.3
• Domains: PWWP, HMG
• Protein Families: Druggable Genome, Transcription Factors
• Protein Pathways: Lysine degradation
• Gene Summary: This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]
  Transcript Variant: This variant (8) contains an additional fragment beyond the 3' end of exon 11, and lacks exons 12-25, as compared to variant 1. This fragment shifts the reading frame and introduces an immediate translation termination. This variant encodes isoform 4, which is much shorter and has a different C-terminus from isoform 1.