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
  KO
K01495  GTP cyclohydrolase IA [EC:3.5.4.16]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00790  Folate biosynthesis
hsa01100  Metabolic pathways
Module
hsa_M00842  Tetrahydrobiopterin biosynthesis, GTP => BH4
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
Pfam: GTP_cyclohydroI QueF MAPKK1_Int
Motif
Other DBs
NCBI-GeneID: 2643
NCBI-ProteinID: NP_000152
OMIM: 600225
HGNC: 4193
Ensembl: ENSG00000131979
Vega: OTTHUMG00000029754
Pharos: P30793(Tbio)
UniProt: P30793 A0A024R642
Structure
PDB: 

Position
14q22.2
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

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