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

SKU SC120083

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

Product Data

• Type: Human Untagged Clone
• Target Symbol: GTP cyclohydrolase 1
• 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).
• 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 Method: 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.
• Note: Plasmids are not sterile. For experiments where strict sterility is required, filtration with 0.22um filter is required.
• Shipping: Ambient

Reference Data

• RefSeq: NM_000161.2, NP_000152.1
• RefSeq Size: 2941 bp
• RefSeq ORF: 753 bp
• Locus ID: 2643
• UniProt ID: P30793
• Cytogenetics: 14q22.2
• Domains: GTP_cyclohydroI
• Protein Families: Druggable Genome
• Protein Pathways: Folate biosynthesis, Metabolic pathways
• 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.