POMT1 (NM_001136114) Human Untagged Clone

CAT#: SC325228

POMT1 (untagged)-Human protein-O-mannosyltransferase 1 (POMT1), transcript variant 5

Specifications

Product Data

• Type: Human Untagged Clone
• Tag: Tag Free
• Symbol: POMT1
• Synonyms: LGMD2K; LGMDR11; MDDGA1; MDDGB1; MDDGC1; RT
• Vector: pCMV6 series
• Sequence Data:
  Fully Sequenced ORF

  >NCBI ORF sequence for NM_001136114, the custom clone sequence may differ by one or more nucleotides
  ATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCT
  CTGTTGATGCTTATCGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCA
  GTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAA
  AAGCACAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGT
  TCCTGTGCAGTGGGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTT
  GCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTCTGTGTGTTC
  TGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTG
  TTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCC
  AGTGCCTTCCAGGCCAGCTTAGAGGGAGGACTAGCTCGGATCACCCAGGGTCAGCCACTG
  GAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGC
  TGGCTTCATTCCCACCAGGACACCTACCCCATGATATATGAGAACGGCCGAGGCAGCTCC
  CACCAGCAACAGGTGACCTGTTACCCCTTCAAAGACGTCAATAACTGGTGGATTGTAAAG
  GATCCCAGGAGGCACCAGCTGGTGGTGAGCAGCCCTCCGAGACCTGTGAGGCACGGGGAC
  ATGGTGCAGCTGGTCCACGGCATGACCACCCGCTCCCTGAACACGCATGATGTTGCAGCC
  CCCCTGAGCCCCCATTCACAGGAGGTCTCCTGCTACATTGACTATAACATCTCCATGCCC
  GCCCAGAACCTCTGGAGACTGGAAATTGTGAACAGAGGATCTGACACAGACGTCTGGAAG
  ACCATCCTCTCAGAGGTCCGCTTTGTGCACGTGAACACTTCCGCTGTCTTAAAGCTGAGC
  GGGGCTCACCTCCCTGACTGGGGGTATCGGCAACTGGAGATCGTCGGGGAGAAGCTGTCC
  CGGGGCTACCACGGGAGCACGGTGTGGAACGTGGAGGAGCACCGATACGGCGCGAGCCAG
  GAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAAC
  CTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGTGGAGGATGCTGGCGCTGAGAAGTGAT
  GACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATT
  GCCTACTGGCTGCACCCCAGGACCAGCGCTCAGATCCACCTACTTGGAAACATAGTGATC
  TGGGTTTCGGGCAGCCTCGCTCTGGCCATCTACGCCCTGCTGTCCTTGTGGTACCTGCTC
  CGACGGCGAAGAAATGTCCATGACCTCCCTCAGGATGCCTGGCTGCGCTGGGTGCTGGCT
  GGGGCGCTGTGTGCCGGTGGCTGGGCAGTGAACTACCTCCCGTTCTTCCTGATGGAGAAG
  ACACTCTTCCTCTACCACTACCTGCCCGCACTCACCTTCCAAATCCTTCTGCTCCCTGTG
  GTCCTGCAGCACATCAGCGACCACCTGTGCAGGTCCCAGCTCCAGAGGAGCATCTTCAGC
  GCCCTGGTGGTGGCCTGGTACTCCTCCGCGTGCCACGTGTCCAACACGCTGCGCCCACTC
  ACCTACGGGGACAAGTCACTCTCGCCACATGAACTCAAGGCCCTTCGCTGGAAAGACAGC
  TGGGACATCTTGATCCGAAAACAC
  
• Restriction Sites: Please inquire
• ACCN: NM_001136114
• 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_001136114.1, NP_001129586.1
• RefSeq Size: 2821 bp
• RefSeq ORF: 1827 bp
• Locus ID: 10585
• UniProt ID: Q9Y6A1
• Cytogenetics: 9q34.13
• Protein Families: Transmembrane
• Protein Pathways: O-Mannosyl glycan biosynthesis
• Gene Summary: The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
  Transcript Variant: This variant (5) lacks two alternate exons and uses an alternate in-frame splice site compared to variant 1. The resulting isoform (d) is shorter at the N-terminus and lacks an internal segment compared to isoform a. Variants 5 and 8 both encode the same isoform (d). Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.