KEGG   Homo sapiens (human): 2643
Entry
2643              CDS       T01001                                 

Gene name
GCH1, DYT14, DYT5, DYT5a, GCH, GTP-CH-1, GTPCH1, HPABH4B
Definition
(RefSeq) GTP cyclohydrolase 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
  Element
N00702  Tetrahydrobiopterin biosynthesis, GTP to BH4
N00703  PTS deficiency in tetrahydrobiopterin biosynthesis
N00704  GCH1 deficiency in tetrahydrobiopterin biosynthesis
Disease
H00167  Phenylketonuria
H00831  Primary 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: ENSG00000131979
Vega: OTTHUMG00000029754
Pharos: P30793(Tbio)
UniProt: P30793 A0A024R642
LinkDB
Structure
PDB: 
1FB1

Position
14q22.2
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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