GTP cyclohydrolase 1 (GCH1) (NM_000161) Human Untagged Clone

CAT#: SC120083

GCH1 (untagged)-Human GTP cyclohydrolase 1 (GCH1), transcript variant 1

Specifications

Product Data

• Type: Human Untagged Clone
• Tag: Tag Free
• Symbol: GCH1
• Synonyms: DYT5; DYT5a; DYT14; GCH; GTP-CH-1; GTPCH1; HPABH4B
• Vector: pCMV6-XL5
• E. coli Selection: Ampicillin (100 ug/mL)
• Mammalian Cell Selection: None
• Sequence Data:
  Fully Sequenced ORF

  >OriGene ORF within SC120083 sequence for NM_000161 edited (data generated by NextGen Sequencing)
  ATGGAGAAGGGCCCTGTGCGGGCACCGGCGGAGAAGCCGCGGGGCGCCAGGTGCAGCAAT
  GGGTTCCCCGAGCGGGATCCGCCGCGGCCCGGGCCCAGCAGGCCGGCGGAGAAGCCCCCG
  CGGCCCGAGGCCAAGAGCGCGCAGCCCGCGGACGGCTGGAAGGGCGAGCGGCCCCGCAGC
  GAGGAGGATAACGAGCTGAACCTCCCTAACCTGGCAGCCGCCTACTCGTCCATCCTGAGC
  TCGCTGGGCGAGAACCCCCAGCGGCAAGGGCTGCTCAAGACGCCCTGGAGGGCGGCCTCG
  GCCATGCAGTTCTTCACCAAGGGCTACCAGGAGACCATCTCAGATGTCCTAAACGATGCT
  ATATTTGATGAAGATCATGATGAGATGGTGATTGTGAAGGACATAGACATGTTTTCCATG
  TGTGAGCATCACTTGGTTCCATTTGTTGGAAAGGTCCATATTGGTTATCTTCCTAACAAG
  CAAGTCCTTGGCCTCAGCAAACTTGCGAGGATTGTAGAAATCTATAGTAGAAGACTACAA
  GTTCAGGAGCGCCTTACAAAACAAATTGCTGTAGCAATCACGGAAGCCTTGCGGCCTGCT
  GGAGTCGGGGTAGTGGTTGAAGCAACACACATGTGTATGGTAATGCGAGGTGTACAGAAA
  ATGAACAGCAAAACTGTGACCAGCACAATGTTGGGTGTGTTCCGGGAGGATCCAAAGACT
  CGGGAAGAGTTCCTGACTCTCATTAGGAGCTGA
  
  Clone variation with respect to NM_000161.2
  
  5' Read Nucleotide Sequence

  >OriGene 5' read for NM_000161 unedited
  GCGGCAACGCAATTCGCACGAGGCCCGGCTCGGTATGTGATCTAAGCAGGTCGCGTACCT
  TCCTCAGGTGACTCCGGCCACAGCCCATTGTCCGCGGCCACCGGCGGAGTTTAGCCGCAG
  ACCTCGAAGCGCCCCGGGGTCCTTCCCGAACGGCAGCGGCTGCGGCGGGTCCATGGAGAA
  TGGCTCNGTGCGGGCACCGGCGGAGAAGCCGCGGGGCGCCAGGTGCAGCAATGGGTTCCC
  CGAGCGGGATCCGCCGCGGCCCGGGCCCATCAGGCCGGCGGAGAAGCCCCCGCGGCCCGA
  GGCCAAGAGCGCGCAGCCCGCGGACGGCTGGAAGGGCGAGCGGCCCCGCAGCGAGGAGGA
  TAACGAGCTGAACCTCCCTAACCTGGCAGCCGCCTACTCGTCCATCCTGAGCTCGCTGGG
  CGAGAACCCCCAGCGGCAAGGGCTGCTCAAGACGCCCTGGAGGGCGGCCTCGGCCATGCA
  GTTCTTCACCAAGGGCTACCAGGAGACCATCTCAGATGTCCTAAACGATGCTATATTTGA
  TGAAGATCATGATGAGATGGTGATTGTGAAGGACATAGACATGTTTTCCATGTGTGAGCA
  TCACTTGGTTCCATTTGTTGGAAAGGTCCATATTGGTTATCTTCCTAACAGCAAGTCCTT
  GGCCTCAGCAAACTTGCGAGGATTGTAGAAATCTATAGTAGAAGACTACCAGTTCAGGAG
  CGCCTTACAAAACACATGGCTGTAGCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCCGC
  GTAGTGGTTGAAGCAACACACATGTGTTTGGTAATGCGAGGTGTACACAAAATGACCAGC
  ANACTGTGACCAGCACAATGTTGGGTGTGTTCCCGGGAGGACC
  
  3' Read Nucleotide Sequence

  >OriGene 3' read for NM_000161 unedited
  AATGNNACCGCGGCCGCAATCTAGGATCGAGTTTTTTTTTTTTTTTTTTAAGTTACAATA
  GTTTAATAATTTAAATAGGACCAACTTCAGGAACATACATACTCATACATAAAATTAAAC
  AATTTAATTTTGAACAGTGTATTGAAATACATCAAATTCTTAAAAATCCCCCAAATGGAC
  TCAAGATCATGGATATGAAAAGGTAATTTTGAAGTACTAAAGACTAGAGTAAAACAGACA
  AAGTCATTACTTTGCATTTACTAATAAGACAACAGCCTGTGGATACATTAGACCTTTATA
  AGAACACTTCTAGGAAATGTTAGAACAACGAGTCATTAAAAAGGAATATAAATGAGTTCA
  TAAAGATAAATGTATAGCTGACAATTTCTTTGGTCCTCGAAGTCACACTTGTTTTTACTT
  TAAAATGCCCAACATGAGTTGAGTGCTCAGAATTCTACCTTATTAATGTCTTAATATTAA
  GCAAGCTAATGGTTATTCTGGGGCTAGATTTAAAAAGGGACTTCAGCCCACCCTCACTGG
  ACTTTAACTTCAGAAAGAAAAAGCCTGGGAACAGAAGTTGAGAGGAATGGGAAAAAACCA
  AAAAACCCCATTCCCTCTGCCATCTTGCCCCCATCATAACCCAAAATAGCATCCAAGTGG
  GCAGAGATGGGGACTAAAGTTTAAAGCAAGCATCAAAGTTATACTTTTTAGGGTAATGGG
  ATGAAATTTGAAGACACTATGTCAACCAATCCTAAACTCATGGATAACTGTGTTTGTGTT
  CTTGTGAGAGTTGCGGTTTTGTTGTTTAATTTGGCCACGCTGCCCCATGGAGGAATTTAA
  GATATCATTATTAGGCACAGCTTCCAGATTAAATACTATCCATCTTACGGAGTCCATGAG
  ACAGACCCCTTGACCCCAAGGAAGGGACCGAGCTTCATGCATTTCACGATCGTGTACATA
  CCTTGATAACG
  
• Restriction Sites: NotI-NotI
• ACCN: NM_000161
• Insert Size: 3000 bp
• 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_000161.2, NP_000152.1
• RefSeq Size: 2941 bp
• RefSeq ORF: 753 bp
• Locus ID: 2643
• Cytogenetics: 14q22.2
• Domains: GTP_cyclohydroI
• Protein Families: Druggable Genome
• Protein Pathways: Folate biosynthesis, Metabolic pathways
• Gene Summary: 'This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]'
  Transcript Variant: This variant (1), also known as Type I, represents the longest transcript. Variants 1 and 2 encode the longest isoform (1), which is the active enzyme.