Entity Details

Primary name GCH1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP30793
EntryNameGCH1_HUMAN
FullNameGTP cyclohydrolase 1
TaxID9606
Evidenceevidence at protein level
Length250
SequenceStatuscomplete
DateCreated1993-07-01
DateModified2021-06-02

Ontological Relatives

GenesGCH1

GO terms

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GOName
GO:0003924 GTPase activity
GO:0003934 GTP cyclohydrolase I activity
GO:0005509 calcium ion binding
GO:0005525 GTP binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006729 tetrahydrobiopterin biosynthetic process
GO:0006809 nitric oxide biosynthetic process
GO:0008217 regulation of blood pressure
GO:0008270 zinc ion binding
GO:0010460 positive regulation of heart rate
GO:0014916 regulation of lung blood pressure
GO:0030742 GTP-dependent protein binding
GO:0031369 translation initiation factor binding
GO:0031410 cytoplasmic vesicle
GO:0031965 nuclear membrane
GO:0032496 response to lipopolysaccharide
GO:0032991 protein-containing complex
GO:0034341 response to interferon-gamma
GO:0034612 response to tumor necrosis factor
GO:0035998 7,8-dihydroneopterin 3'-triphosphate biosynthetic process
GO:0042311 vasodilation
GO:0042416 dopamine biosynthetic process
GO:0042559 pteridine-containing compound biosynthetic process
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0044306 neuron projection terminus
GO:0044877 protein-containing complex binding
GO:0045776 negative regulation of blood pressure
GO:0046146 tetrahydrobiopterin metabolic process
GO:0046654 tetrahydrofolate biosynthetic process
GO:0048265 response to pain
GO:0050884 neuromuscular process controlling posture
GO:0051000 positive regulation of nitric-oxide synthase activity
GO:0051019 mitogen-activated protein kinase binding
GO:0065003 protein-containing complex assembly
GO:2000121 regulation of removal of superoxide radicals

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR001474 GTP cyclohydrolase IFamilyFamily
IPR018234 GTP cyclohydrolase I, conserved siteSiteConserved site
IPR020602 GTP cyclohydrolase I domainDomainDomain
IPR043133 GTP cyclohydrolase I, C-terminal/NADPH-dependent 7-cyano-7-deazaguanine reductaseFamilyHomologous superfamily
IPR043134 GTP cyclohydrolase I, N-terminal domainFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
128230 OMIMDystonia, dopa-responsive (DRD)A form of dystonia that responds to L-DOPA treatment without side effects. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DRD typically presents in childhood with walking problems due to dystonia of the lower limbs and worsening of the dystonia towards the evening. It is characterized by postural and motor disturbances showing marked diurnal fluctuation. Torsion of the trunk is unusual. Symptoms are alleviated after sleep and aggravated by fatigue and exercise. The disease is caused by variants affecting the gene represented in this entry.
233910 OMIMHyperphenylalaninemia, BH4-deficient, B (HPABH4B)A disease characterized by malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency, and defective neurotransmission due to depletion of the neurotransmitters dopamine and serotonin. The principal symptoms include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Some patients may present a phenotype of intermediate severity between severe hyperphenylalaninemia and mild dystonia. In this intermediate phenotype, there is marked motor delay, but no mental retardation and only minimal, if any, hyperphenylalaninemia. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB02377 GuanineDrugbanksmall molecule

Interactions

31 interactions

InteractorPartnerSourcesPublicationsLink
GCH1_HUMANAHSA1_HUMANBioGRID, HPRD, IntAct16696853 details
GCH1_HUMANHSP7C_HUMANBioGRID, HPRD, IntAct16696853 details
GCH1_HUMANRAB26_HUMANBioGRID, HPRD, IntAct16696853 details
GCH1_HUMANCNRP1_HUMANBioGRID, IntAct16696853 details
GCH1_HUMANRLF_HUMANBioGRID, HPRD, IntAct16696853 details
GCH1_HUMANSP3_HUMANBioGRID, IntAct16696853 details
GCH1_HUMANGCH1_HUMANBioGRID, HPRD, IntAct11087827 16696853 2463916 details
GCH1_HUMANGFRP_HUMANBioGRID, HPRD, IntAct16696853 8702680 details
GCH1_HUMANGIT2_HUMANBioGRID, IntAct21988832 details
GCH1_HUMAN1433Z_HUMANBioGRID, IntAct21988832 details
GCH1_HUMANCDC37_HUMANBioGRID, MINT21900206 details
GCH1_HUMANSH3G2_HUMANBioGRID, MINT21900206 details
GCH1_HUMANTNPO2_HUMANBioGRID, IntAct32296183 details
GCH1_HUMANTNPO3_HUMANBioGRID, IntAct32296183 details
GCH1_HUMANAT1B1_HUMANBioGRID, HPRD16696853 details
GCH1_HUMANRP3A_HUMANBioGRID, HPRD7802677 details
GCH1_HUMANPACN3_HUMANBioGRID19294699 details
GCH1_HUMANCALL5_HUMANBioGRID19294699 details
GCH1_HUMANCALL6_HUMANBioGRID19294699 details
GCH1_HUMANRGS19_HUMANBioGRID19294699 details
GCH1_HUMANPPM1B_HUMANBioGRID19294699 details
GCH1_HUMANMP2K4_HUMANBioGRID19294699 details
GCH1_HUMANMP2K5_HUMANBioGRID19294699 details
GCH1_HUMANMK12_HUMANBioGRID19294699 details
GCH1_HUMANMK10_HUMANBioGRID19294699 details
GCH1_HUMANKKCC1_HUMANBioGRID19294699 details
GCH1_HUMANKC1G1_HUMANBioGRID19294699 details
GCH1_HUMANCSK21_HUMANBioGRID19294699 details
GCH1_HUMANCSK2B_HUMANBioGRID19294699 details
GCH1_HUMANKAP2_HUMANBioGRID19294699 details
GCH1_HUMANKAP3_HUMANBioGRID19294699 details