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
  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: ENSG00000131979
UniProt: P30793
Structure
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (7)   
   KEGG PATHWAY (3)   
   KEGG MODULE (4)   
Network (3)   
   KEGG NETWORK (3)   
Disease (6)   
   KEGG DISEASE (3)   
   OMIM (3)   
Chemical substance (7)   
   KEGG COMPOUND (7)   
Chemical reaction (6)   
   KEGG ENZYME (1)   
   KEGG REACTION (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (24)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (13)   
   OC (1)   
Protein sequence (10)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (8)   
DNA sequence (40)   
   RefSeq(nuc) (8)   
   GenBank (16)   
   EMBL (16)   
3D Structure (11)   
   PDB (11)   
Protein domain (3)   
   Pfam (3)   
All databases (120)   

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