Entry |
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Gene name |
GCH1, DYT14, DYT5, DYT5a, GCH, GTP-CH-1, GTPCH1, HPABH4B
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Definition |
(RefSeq) GTP cyclohydrolase 1
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KO |
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Organism |
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Pathway |
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Module |
hsa_M00842 | Tetrahydrobiopterin biosynthesis, GTP => BH4 |
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Network |
nt06016 Phenylalanine and tyrosine metabolism |
Element |
N00702 | Tetrahydrobiopterin biosynthesis, GTP to BH4 |
N00703 | PTS deficiency in tetrahydrobiopterin biosynthesis |
N00704 | GCH1 deficiency in tetrahydrobiopterin biosynthesis |
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Disease |
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Brite |
KEGG Orthology (KO) [BR:hsa00001]
09100 Metabolism
09108 Metabolism of cofactors and vitamins
00790 Folate biosynthesis
2643 (GCH1)
Enzymes [BR:hsa01000]
3. Hydrolases
3.5 Acting on carbon-nitrogen bonds, other than peptide bonds
3.5.4 In cyclic amidines
3.5.4.16 GTP cyclohydrolase I
2643 (GCH1)
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SSDB |
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Motif |
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Other DBs |
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LinkDB |
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Structure |
PDB: |
Position |
14q22.2
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AA seq |
250 aa
MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPADGWKGERPRS
EEDNELNLPNLAAAYSSILSSLGENPQRQGLLKTPWRAASAMQFFTKGYQETISDVLNDA
IFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIGYLPNKQVLGLSKLARIVEIYSRRLQ
VQERLTKQIAVAITEALRPAGVGVVVEATHMCMVMRGVQKMNSKTVTSTMLGVFREDPKT
REEFLTLIRS |
NT seq |
753 nt +upstreamnt +downstreamnt
atggagaagggccctgtgcgggcaccggcggagaagccgcggggcgccaggtgcagcaat
gggttccccgagcgggatccgccgcggcccgggcccagcaggccggcggagaagcccccg
cggcccgaggccaagagcgcgcagcccgcggacggctggaagggcgagcggccccgcagc
gaggaggataacgagctgaacctccctaacctggcagccgcctactcgtccatcctgagc
tcgctgggcgagaacccccagcggcaagggctgctcaagacgccctggagggcggcctcg
gccatgcagttcttcaccaagggctaccaggagaccatctcagatgtcctaaacgatgct
atatttgatgaagatcatgatgagatggtgattgtgaaggacatagacatgttttccatg
tgtgagcatcacttggttccatttgttggaaaggtccatattggttatcttcctaacaag
caagtccttggcctcagcaaacttgcgaggattgtagaaatctatagtagaagactacaa
gttcaggagcgccttacaaaacaaattgctgtagcaatcacggaagccttgcggcctgct
ggagtcggggtagtggttgaagcaacacacatgtgtatggtaatgcgaggtgtacagaaa
atgaacagcaaaactgtgaccagcacaatgttgggtgtgttccgggaggatccaaagact
cgggaagagttcctgactctcattaggagctga |