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

Gene name
GCH1, DYT14, DYT5, DYT5a, GCH, GTP-CH-1, GTPCH1, HPABH4B
Definition
(RefSeq) GTP cyclohydrolase 1 (EC:3.5.4.16)
  KO
K01495  
GTP cyclohydrolase I [EC:3.5.4.16]
Organism
hsa  Homo sapiens (human)
Pathway
Folate biosynthesis
Metabolic pathways
Disease
H00167  
Phenylketonuria (PKU)
H00831  
Primary dystonia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
14q22.1-q22.2
AA seq 250 aa AA seqDB search
MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPADGWKGERPRS
EEDNELNLPNLAAAYSSILSSLGENPQRQGLLKTPWRAASAMQFFTKGYQETISDVLNDA
IFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIGYLPNKQVLGLSKLARIVEIYSRRLQ
VQERLTKQIAVAITEALRPAGVGVVVEATHMCMVMRGVQKMNSKTVTSTMLGVFREDPKT
REEFLTLIRS
NT seq 753 nt NT seq  +upstreamnt  +downstreamnt
atggagaagggccctgtgcgggcaccggcggagaagccgcggggcgccaggtgcagcaat
gggttccccgagcgggatccgccgcggcccgggcccagcaggccggcggagaagcccccg
cggcccgaggccaagagcgcgcagcccgcggacggctggaagggcgagcggccccgcagc
gaggaggataacgagctgaacctccctaacctggcagccgcctactcgtccatcctgagc
tcgctgggcgagaacccccagcggcaagggctgctcaagacgccctggagggcggcctcg
gccatgcagttcttcaccaagggctaccaggagaccatctcagatgtcctaaacgatgct
atatttgatgaagatcatgatgagatggtgattgtgaaggacatagacatgttttccatg
tgtgagcatcacttggttccatttgttggaaaggtccatattggttatcttcctaacaag
caagtccttggcctcagcaaacttgcgaggattgtagaaatctatagtagaagactacaa
gttcaggagcgccttacaaaacaaattgctgtagcaatcacggaagccttgcggcctgct
ggagtcggggtagtggttgaagcaacacacatgtgtatggtaatgcgaggtgtacagaaa
atgaacagcaaaactgtgaccagcacaatgttgggtgtgttccgggaggatccaaagact
cgggaagagttcctgactctcattaggagctga

DBGET integrated database retrieval system