KEGG   Homo sapiens (human): 2643
Entry
2643              CDS       T01001                                 
Symbol
GCH1, DYT14, DYT5, DYT5a, GCH, GTP-CH-1, GTPCH1, HPABH4B
Name
(RefSeq) GTP cyclohydrolase 1 isoform 1
  KO
K01495  GTP cyclohydrolase IA [EC:3.5.4.16]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00790  Folate biosynthesis
hsa01100  Metabolic pathways
hsa01240  Biosynthesis of cofactors
Module
hsa_M00842  Tetrahydrobiopterin biosynthesis, GTP => BH4
Network
nt06016  Phenylalanine and tyrosine metabolism
nt06028  Dopamine and serotonin metabolism
  Element
N00702  Tetrahydrobiopterin biosynthesis, GTP to BH4
Disease
H00167  Phenylketonuria
H00831  Primary dystonia
H02557  Dopa-responsive dystonia
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)
SSDB
Motif
Pfam: GTP_cyclohydroI QueF MAPKK1_Int
Other DBs
NCBI-GeneID: 2643
NCBI-ProteinID: NP_000152
OMIM: 600225
HGNC: 4193
Ensembl: ENSP00000419045.2
UniProt: P30793
Structure
LinkDB
Position
14:complement(54842017..54902826)
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

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