Niemann Pick C1 (NPC1) (NM_000271) Human Untagged Clone

CAT#: SC120010

NPC1 (untagged)-Human Niemann-Pick disease, type C1 (NPC1)

Specifications

Product Data

• Type: Human Untagged Clone
• Tag: Tag Free
• Symbol: Niemann Pick C1
• Synonyms: NPC; POGZ; SLC65A1
• Vector: pCMV6-XL4
• E. coli Selection: Ampicillin (100 ug/mL)
• Mammalian Cell Selection: None
• Sequence Data:
  Fully Sequenced ORF

  >OriGene sequence for NM_000271 edited
  CCGGCGTCCGCAGCCTTGCGCGGCCACAGCATGACCGCTCGCGGCCTGGCCCTTGGCCTC
  CTCCTGCTGCTACTGTGTCCAGCGCAGGTGTTTTCACAGTCCTGTGTTTGGTATGGAGAG
  TGTGGAATTGCATATGGGGACAAGAGGTACAATTGCGAATATTCTGGCCCACCAAAACCA
  TTGCCAAAGGATGGATATGACTTAGTGCAGGAACTCTGTCCAGGATTCTTCTTTGGCAAT
  GTCAGTCTCTGTTGTGATGTTCGGCAGCTTCAGACACTAAAAGACAACCTGCAGCTGCCT
  CTACAGTTTCTGTCCAGATGTCCATCCTGTTTTTATAACCTACTGAACCTGTTTTGTGAG
  CTGACATGTAGCCCTCGACAGAGTCAGTTTTTGAATGTTACAGCTACTGAAGATTATGTT
  GATCCTGTTACAAACCAGACGAAAACAAATGTGAAAGAGTTACAATACTACGTCGGACAG
  AGTTTTGCCAATGCAATGTACAATGCCTGCCGGGATGTGGAGGCCCCCTCAAGTAATGAC
  AAGGCCCTGGGACTCCTGTGTGGGAAGGACGCTGACGCCTGTAATGCCACCAACTGGATT
  GAATACATGTTCAATAAGGACAATGGACAGGCACCTTTTACCATCACTCCTGTGTTTTCA
  GATTTTCCAGTCCATGGGATGGAGCCCATGAACAATGCCACCAAAGGCTGTGACGAGTCT
  GTGGATGAGGTCACAGCACCATGTAGCTGCCAAGACTGCTCTATTGTCTGTGGCCCCAAG
  CCCCAGCCCCCACCTCCTCCTGCTCCCTGGACGATCCTTGGCTTGGACGCCATGTATGTC
  ATCATGTGGATCACCTACATGGCGTTTTTGCTTGTGTTTTTTGGAGCATTTTTTGCAGTG
  TGGTGCTACAGAAAACGGTATTTTGTCTCCGAGTACACTCCCATCGATAGCAATATAGCT
  TTTTCTGTTAATGCAAGTGACAAAGGAGAGGCGTCCTGCTGTGACCCTGTCAGCGCAGCA
  TTTGAGGGCTGCTTGAGGCGGCTGTTCACACGCTGGGGGTCTTTCTGCGTCCGAAACCCT
  GGCTGTGTCATTTTCTTCTCGCTGGTCTTCATTACTGCGTGTTCGTCAGGCCTGGTGTTT
  GTCCGGGTCACAACCAATCCAGTTGACCTCTGGTCAGCCCCCAGCAGCCAGGCTCGCCTG
  GAAAAAGAGTACTTTGACCAGCACTTTGGGCCTTTCTTCCGGACGGAGCAGCTCATCATC
  CGGGCCCCTCTCACTGACAAACACATTTACCAGCCATACCCTTCGGGAGCTGATGTACCC
  TTTGGACCTCCGCTTGACATACAGATACTGCACCAGGTTCTTGACTTACAAATAGCCATC
  GAAAACATTACTGCCTCTTATGACAATGAGACTGTGACACTTCAAGACATCTGCTTGGCC
  CCTCTTTCACCGTATAACACGAACTGCACCATTTTGAGTGTGTTAAATTACTTCCAGAAC
  AGCCATTCCGTGCTGGACCACAAGAAAGGGGACGACTTCTTTGTGTATGCCGATTACCAC
  ACGCACTTTCTGTACTGCGTACGGGCTCCTGCCTCTCTGAATGATACAAGTTTGCTCCAT
  GACCCTTGTCTGGGTACGTTTGGTGGACCAGTGTTCCCGTGGCTTGTGTTGGGAGGCTAT
  GATGATCAAAACTACAATAACGCCACTGCCCTTGTGATTACCTTCCCTGTCAATAATTAC
  TATAATGATACAGAGAAGCTCCAGAGGGCCCAGGCCTGGGAAAAAGAGTTTATTAATTTT
  GTGAAAAACTACAAGAATCCCAATCTGACCATTTCCTTCACTGCTGAACGAAGTATTGAA
  GATGAACTAAATCGTGAAAGTGACAGTGATGTCTTCACCGTTGTAATTAGCTATGCCATC
  ATGTTTCTATATATTTCCCTAGCCTTGGGGCACATCAAAAGCTGTCGCAGGCTTCTGGTG
  GATTCGAAGGTCTCACTAGGCATCGCGGGCATCTTGATCGTGCTGAGCTCGGTGGCTTGC
  TCCTTGGGTGTCTTCAGCTACATTGGGTTGCCCTTGACCCTCATTGTGATTGAAGTCATC
  CCGTTCCTGGTGCTGGCTGTTGGAGTGGACAACATCTTCATTCTGGTGCAGGCCTACCAG
  AGAGATGAACGTCTTCAAGGGGAAACCCTGGATCAGCAGCTGGGCAGGGTCCTAGGAGAA
  GTGGCTCCCAGTATGTTCCTGTCATCCTTTTCTGAGACTGTAGCATTTTTCTTAGGAGCA
  TTGTCCGTGATGCCAGCCGTGCACACCTTCTCTCTCTTTGCGGGATTGGCAGTCTTCATT
  GACTTTCTTCTGCAGATTACCTGTTTCGTGAGTCTCTTGGGGTTAGACATTAAACGTCAA
  GAGAAAAATCGGCTAGACATCTTTTGCTGTGTCAGAGGTGCTGAAGATGGAACAAGCGTC
  CAGGCCTCAGAGAGCTGTTTGTTTCGCTTCTTCAAAAACTCCTATTCTCCACTTCTGCTA
  AAGGACTGGATGAGACCAATTGTGATAGCAATATTTGTGGGTGTTCTGTCATTCAGCATC
  GCAGTCCTGAACAAAGTAGATATTGGATTGGATCAGTCTCTTTCGATGCCAGATGACTCC
  TACATGGTGGATTATTTCAAATCCATCAGTCAGTACCTGCATGCGGGTCCGCCTGTGTAC
  TTTGTCCTGGAGGAAGGGCACGACTACACTTCTTCCAAGGGGCAGAACATGGTGTGCGGC
  GGCATGGGCTGCAACAATGATTCCCTGGTGCAGCAGATATTTAACGCGGCGCAGCTGGAC
  AACTATACCCGAATAGGCTTCGCCCCCTCGTCCTGGATCGACGATTATTTCGACTGGGTG
  AAGCCACAGTCGTCTTGCTGTCGAGTGGACAATATCACTGACCAGTTCTGCAATGCTTCA
  GTGGTTGACCCTGCCTGCGTTCGCTGCAGGCCTCTGACTCCGGAAGGCAAACAGAGGCCT
  CAGGGGGGAGACTTCATGAGATTCCTGCCCATGTTCCTTTCGGATAACCCTAACCCCAAG
  TGTGGCAAAGGGGGACATGCTGCCTATAGTTCTGCAGTTAACATCCTCCTTGGCCATGGC
  ACCAGGGTCGGAGCCACGTACTTCATGACCTACCACACCGTGCTGCAGACCTCTGCTGAC
  TTTATTGACGCTCTGAAGAAAGCCCGACTTATAGCCAGTAATGTCACCGAAACCATGGGC
  ATTAACGGCAGTGCCTACCGAGTATTTCCTTACAGTGTGTTTTATGTCTTCTACGAACAG
  TACCTGACCATCATTGACGACACTATCTTCAACCTCGGTGTGTCCCTGGGCGCGATATTT
  CTGGTGACCATGGTCCTCCTGGGCTGTGAGCTCTGGTCTGCAGTCATCATGTGTGCCACC
  ATCGCCATGGTCTTGGTCAACATGTTTGGAGTTATGTGGCTCTGGGGCATCAGTCTGAAC
  GCTGTATCCTTGGTCAACCTGGTGATGAGCTGTGGCATCTCCGTGGAGTTCTGCAGCCAC
  ATAACCAGAGCGTTCACGGTGAGCATGAAAGGCAGCCGCGTGGAGCGCGCGGAAGAGGCA
  CTTGCCCACATGGGCAGCTCCGTGTTCAGTGGAATCACACTTACAAAATTTGGAGGGATT
  GTGGTGTTGGCTTTTGCCAAATCTCAAATTTTCCAGATATTCTACTTCAGGATGTATTTG
  GCCATGGTCTTACTGGGAGCCACTCACGGATTAATATTTCTCCCTGTCTTACTCAGTTAC
  ATAGGGCCATCAGTAAATAAAGCCAAAAGTTGTGCCACTGAAGAGCGATACAAAGGAACA
  GAGCGCGAACGGCTTCTAAATTTCTAGCCCTCTCGCAGGGCATCCTGACTGAACTGTGTC
  TAAGGGTCGGTCGGTTTACCACTGGACGGGTGCTGCATCGGCAAGGCCAAGTTGAACACC
  GGATGGTGCCAACCATCGGTTGTTTGGCAGCAGCTTTGAACGTAGCGCCTGTGAACTCAG
  GAATGCACAGTTGACTTGGGAAGCAGTATTACTAGATCTGGAGGCAACCACAGGACACTA
  AACTTCTCCCAGCCTCTTCAGGAAAGAAACCTCATTCTTTGGCAAGCAGGAGGTGACACT
  AGATGGCTGTGAATGTGATCCGCTCACTGACACTCTGTAAAGGCCAATCAATGCACTGTC
  TGTCTCTCCTTTTAGGAGTAAGCCATCCCACAAGTTCTATACCATATTTTTAGTGACAGT
  TGAGGTTGTAGATACACTTTATAACATTTTATAGTTTAAAGAGCTTTATTAATGCAATAA
  ATTAACTTTGTACACATTTTTATATAAAAAAACAGCAAGTGATTTCAGAATGTTGTAGGC
  CTCATTAGAGCTTGGTCTCCAAAAATCTGTTTGAAAAAAGCAACATGTTCTTCACAGTGT
  TCCCCTAGAAAGGAAGAGATTTAATTGCCAGTTAGATGTGGCATGAAATGAGGGACAAAG
  AAAGCATCTCGTAGGTGTGTCTACTGGGTTTTAACTTATTTTTCTTTAATAAAATACATT
  GTTTTCCTAAAAAAAAAAAAAAAAAA
  
  5' Read Nucleotide Sequence

  >OriGene 5' read for NM_000271 unedited
  GCCGCGAATTCGGCACGAGCCGGCGTCCGCAGCCTTGCGCGGCCACAGCATGACCGCTCG
  CGGCCTGGCCCTTGGCCTCCTCCTGCTGCTACTGTGTCCAGCGCAGGTGTTTTCACAGTC
  CTGTGTTTGGTATGGAGAGTGTGGAATTGCATATGGGGACAAGAGGTACAATTGCGAATA
  TTCTGGCCCACCAAAACCATTGCCAAAGGATGGATATGACTTAGTGCAGGAACTCTGTCC
  AGGATTCTTCTTTGGCAATGTCAGTCTCTGTTGTGATGTTCGGCAGCTTCAGACACTAAA
  AGACAACCTGCAGCTGCCTCTACAGTTTCTGTCCAGATGTCCATCCTGTTTTTATAACCT
  ACTGAACCTGTTTTGTGAGCTGACATGTAGCCCTCGACAGAGTCAGTTTTTGAATGTTAC
  AGCTACTGAAGATTATGTTGATCCTGTTACAAACCAGACGAAAACAAATGTGAAAGAGTT
  ACAATACTACGTCGGACAGAGTTTTGCCAATGCAATGTACAATGCCTGCCGGGATGTGGA
  GGCCCCCTCAAGTAATGACAAGGCCCTGGGACTCCTGTGTGGGAAGGACGCTGACGCCTG
  TAATGCCACCAACTGGATTGAATACATGTTCAATAAGGACAATGGACAGGCACCTTTTAC
  CATCACTCCTGTGNTTTCAGATTTTCCAGTCCATGGGATGGAGCCCATGAACAATGCCAC
  CN
  
  3' Read Nucleotide Sequence

  >OriGene 3' read for NM_000271 unedited
  TGGACCGCGGCCGCAATCTANAGTCGAGTTTTTTTTTTTTTTTTTTAGGAAAACAATGTA
  TTTTATTAAAGAAAAATAAGTTAAAACCCAGTAGACACACCTACGAGATGCTTTCTTTGT
  CCCTCATTTCATGCCACATCTAACTGGCAATTAAATCTCTTCCTTTCTAGGGGAACACTG
  TGAAGAACATGTTGCTTTTTTCAAACAGATTTTTGGAGACCAAGCTCTAATGAGGCCTAC
  AACATTCTGAAATCACTTGCTGTTTTTTTATATAAAAATGTGTACAAAGTTAATTTATTG
  CATTAATAAAGCTCTTTAAACTATAAAATGTTATAAAGTGTATCTACAACCTCAACTGTC
  ACTAAAAATATGGTATAGAACTTGTGGGATGGCTTACTCCTAAAAGGAGAGACAGACAGT
  GCATTGATTGGCCTTTACAGAGTGTCAGTGAGCGGATAACCATTACCAGCCTCTAGTGTC
  CCCTCCTGCTTCCCAAAGAACGAGGCTTTTTTTCTCACCAGGCTGCGACAACTTTAGTGT
  CCTGCGGTCGCCCCACATTTACAATACCGCCCCCCAGGCCCCCCGTTTTCCCTGACTCTC
  AGGCCCTCCCCCCCACCTGCTGCCCCACACCCGATCGGCACCACCACTCGCCCGTCCTCC
  ATGAGCATTTACAACCCTCCCCCCTTCTCCCCCCTTCCCCCCCCCTTCTCCCCCTTCCCC
  CCGCCTCCCTCTCCCTTCCCCCGTCCCCCATTCCCTCCCCCTTTCCTCCCCCTACATCCA
  TGCCCCCCTTTTCTTTTTTTCCTCCGTCATATTCTCCCCCTCTCTCCCCACCTTTCCTCC
  CCCCTTTCCCTCCTCCCTCCCTCCACCCCCCCGCACAATCGTGCACACCCCTCCATATTC
  TATCCCCCCCTCCCATCATTCTTCCCCCCTCCCCTCCTCCGTTACCCTCCCTCCATCGCC
  CCCCCGTCCTTGTTACCGCCCACACCACCTTTATCGCACCCCCCTGCCCT
  
• Restriction Sites: NotI-NotI
• ACCN: NM_000271
• Insert Size: 4800 bp
• OTI Disclaimer: Due to the inherent nature of this plasmid, standard methods to replicate additional amounts of DNA in E. coli are highly likely to result in mutations and/or rearrangements. Therefore, OriGene does not guarantee the capability to replicate this plasmid DNA. Additional amounts of DNA can be purchased from OriGene with batch-specific, full-sequence verification at a reduced cost. Please contact our customer care team at custsupport@origene.com or by calling 301.340.3188 option 3 for pricing and delivery.
  
  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 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_000271.1, NP_000262.1
• RefSeq Size: 4673 bp
• RefSeq ORF: 3837 bp
• Locus ID: 4864
• UniProt ID: O15118
• Cytogenetics: 18q11.2
• Domains: Patched
• Protein Families: Druggable Genome, Transmembrane
• Protein Pathways: Lysosome
• Gene Summary: This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]