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MGP001176

Record overview

MGPD IDMGP001176
Gene ID2643
SpeciesHomo sapiens (Human)
Gene NameGTP cyclohydrolase 1
Gene Symbol GCH1
SynonymsGCH; DYT5; DYT14; DYT5a; GTPCH1; HPABH4B; GTP-CH-1;
Alternate namesGTP cyclohydrolase 1; GTP cyclohydrolase I; GTP-CH-I; dystonia 14; guanosine 5'-triphosphate cyclohydrolase I;
Chromosome14
Map Location14q22.1-q22.2
EC Number3.5.4.16
SummaryThis gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for GCH1

Proteins

GTP cyclohydrolase 1 isoform 1
Refseq ID:NP_000152
Protein GI:4503949
UniProt ID:P30793
mRNA ID:NM_000161
Length:250
RefSeq Status:
MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPADGWKGERPRSEEDNELNLPNLAAAYSSILSSLGENPQRQGLLKTPWRAAS
AMQFFTKGYQETISDVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIGYLPNKQVLGLSKLARIVEIYSRRLQVQERLTKQIAVAITEALRPA
GVGVVVEATHMCMVMRGVQKMNSKTVTSTMLGVFREDPKTREEFLTLIRS
 
GTP cyclohydrolase 1 isoform 1
Refseq ID:NP_001019195
Protein GI:66932968
UniProt ID:P30793
mRNA ID:NM_001024024
Length:250
RefSeq Status:
Protein sequence is identical to GI:4503949 (mRNA isoform)
 
GTP cyclohydrolase 1 isoform 2
Refseq ID:NP_001019241
Protein GI:66932970
UniProt ID:P30793
mRNA ID:NM_001024070
Length:233
RefSeq Status:
MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPADGWKGERPRSEEDNELNLPNLAAAYSSILSSLGENPQRQGLLKTPWRAAS
AMQFFTKGYQETISDVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIGYLPNKQVLGLSKLARIVEIYSRRLQVQERLTKQIAVAITEALRPA
GVGVVVEATKSNKYNKGLSPLLSSCHLFVAILK
 
GTP cyclohydrolase 1 isoform 3
Refseq ID:NP_001019242
Protein GI:66932972
UniProt ID:P30793
mRNA ID:NM_001024071
Length:213
RefSeq Status:
MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPADGWKGERPRSEEDNELNLPNLAAAYSSILSSLGENPQRQGLLKTPWRAAS
AMQFFTKGYQETISDVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIGYLPNKQVLGLSKLARIVEIYSRRLQVQERLTKQIAVAITEALRPA
GVGVVVEATSAEP
 
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