UniProtKB - P30793 (GCH1_HUMAN)
GTP cyclohydrolase 1
GCH1
Functioni
Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown.
5 PublicationsCatalytic activityi
- EC:3.5.4.163 Publications
Activity regulationi
Kineticsi
- KM=116 µM for GTP1 Publication
pH dependencei
Temperature dependencei
: 7,8-dihydroneopterin triphosphate biosynthesis Pathwayi
This protein is involved in step 1 of the subpathway that synthesizes 7,8-dihydroneopterin triphosphate from GTP.3 Publications This subpathway is part of the pathway 7,8-dihydroneopterin triphosphate biosynthesis, which is itself part of Cofactor biosynthesis.View all proteins of this organism that are known to be involved in the subpathway that synthesizes 7,8-dihydroneopterin triphosphate from GTP, the pathway 7,8-dihydroneopterin triphosphate biosynthesis and in Cofactor biosynthesis.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 141 | Zinc1 Publication | 1 | |
Metal bindingi | 144 | Zinc1 Publication | 1 | |
Metal bindingi | 212 | Zinc1 Publication | 1 |
GO - Molecular functioni
- calcium ion binding Source: Ensembl
- GTPase activity Source: UniProtKB
- GTP binding Source: UniProtKB
- GTP cyclohydrolase I activity Source: UniProtKB
- GTP-dependent protein binding Source: Ensembl
- identical protein binding Source: UniProtKB
- mitogen-activated protein kinase binding Source: ParkinsonsUK-UCL
- protein-containing complex binding Source: Ensembl
- protein homodimerization activity Source: UniProtKB
- translation initiation factor binding Source: Ensembl
- zinc ion binding Source: UniProtKB
GO - Biological processi
- 7,8-dihydroneopterin 3'-triphosphate biosynthetic process Source: UniProtKB-UniPathway
- dopamine biosynthetic process Source: UniProtKB
- negative regulation of blood pressure Source: Ensembl
- neuromuscular process controlling posture Source: MGI
- nitric oxide biosynthetic process Source: UniProtKB
- positive regulation of heart rate Source: Ensembl
- positive regulation of nitric-oxide synthase activity Source: UniProtKB
- protein-containing complex assembly Source: Ensembl
- pteridine-containing compound biosynthetic process Source: UniProtKB
- regulation of blood pressure Source: UniProtKB
- regulation of lung blood pressure Source: Ensembl
- regulation of removal of superoxide radicals Source: BHF-UCL
- response to interferon-gamma Source: UniProtKB
- response to lipopolysaccharide Source: UniProtKB
- response to pain Source: UniProtKB
- response to tumor necrosis factor Source: UniProtKB
- tetrahydrobiopterin biosynthetic process Source: UniProtKB
- tetrahydrofolate biosynthetic process Source: InterPro
- vasodilation Source: Ensembl
Keywordsi
Molecular function | Allosteric enzyme, Hydrolase |
Biological process | Tetrahydrobiopterin biosynthesis |
Ligand | GTP-binding, Metal-binding, Nucleotide-binding, Zinc |
Enzyme and pathway databases
BRENDAi | 3.5.4.16, 2681 |
PathwayCommonsi | P30793 |
Reactomei | R-HSA-1474151, Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation |
SABIO-RKi | P30793 |
SignaLinki | P30793 |
SIGNORi | P30793 |
UniPathwayi | UPA00848;UER00151 |
Names & Taxonomyi
Protein namesi | Recommended name: GTP cyclohydrolase 1 (EC:3.5.4.163 Publications)Alternative name(s): GTP cyclohydrolase I Short name: GTP-CH-I |
Gene namesi | Name:GCH1 Synonyms:DYT5, GCH |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4193, GCH1 |
MIMi | 600225, gene |
neXtProti | NX_P30793 |
VEuPathDBi | HostDB:ENSG00000131979 |
Subcellular locationi
Cytosol
- cytosol Source: UniProtKB
Nucleus
- nuclear membrane Source: HPA
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
- cytoplasmic vesicle Source: UniProtKB
- neuron projection terminus Source: ParkinsonsUK-UCL
- protein-containing complex Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_016894 | 108 | G → D in HPABH4B; intermediate phenotype presenting with dystonia and motor delay. 1 PublicationCorresponds to variant dbSNP:rs104894435EnsemblClinVar. | 1 | |
Natural variantiVAR_002643 | 184 | R → H in HPABH4B; severe hyperphenylalaninemia. 1 PublicationCorresponds to variant dbSNP:rs104894445EnsemblClinVar. | 1 | |
Natural variantiVAR_002647 | 211 | M → I in HPABH4B; severe hyperphenylalaninemia. 1 PublicationCorresponds to variant dbSNP:rs104894443EnsemblClinVar. | 1 | |
Natural variantiVAR_016905 | 221 | M → T in HPABH4B; intermediate phenotype presenting with dystonia and motor delay. 1 PublicationCorresponds to variant dbSNP:rs104894434EnsemblClinVar. | 1 | |
Natural variantiVAR_002648 | 224 | K → R in HPABH4B and DRD; phenotype presenting with dystonia and myoclonus. 3 PublicationsCorresponds to variant dbSNP:rs41298442EnsemblClinVar. | 1 |
Dystonia, dopa-responsive (DRD)15 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_002633 | 23 | P → L in DRD. 1 PublicationCorresponds to variant dbSNP:rs41298432EnsemblClinVar. | 1 | |
Natural variantiVAR_016888 | 71 | L → Q in DRD. 1 Publication | 1 | |
Natural variantiVAR_016889 | 74 | A → V in DRD. 1 Publication | 1 | |
Natural variantiVAR_002634 | 79 | L → P in DRD. 1 Publication | 1 | |
Natural variantiVAR_016890 | 83 | G → A in DRD. 2 Publications | 1 | |
Natural variantiVAR_016891 | 88 – 89 | Missing in DRD. 1 Publication | 2 | |
Natural variantiVAR_002635 | 88 | R → P in DRD. 1 Publication | 1 | |
Natural variantiVAR_002636 | 88 | R → W in DRD. 1 PublicationCorresponds to variant dbSNP:rs104894433EnsemblClinVar. | 1 | |
Natural variantiVAR_016892 | 90 | G → V in DRD. 1 Publication | 1 | |
Natural variantiVAR_002637 | 102 | M → K in DRD. 1 Publication | 1 | |
Natural variantiVAR_016893 | 102 | M → R in DRD. 1 Publication | 1 | |
Natural variantiVAR_054112 | 106 | T → I in DRD. 1 Publication | 1 | |
Natural variantiVAR_016895 | 115 | D → N in DRD. 1 PublicationCorresponds to variant dbSNP:rs1393095176EnsemblClinVar. | 1 | |
Natural variantiVAR_002638 | 134 | D → V in DRD. 1 PublicationCorresponds to variant dbSNP:rs104894437EnsemblClinVar. | 1 | |
Natural variantiVAR_016896 | 135 | I → K in DRD. 1 PublicationCorresponds to variant dbSNP:rs104894441EnsemblClinVar. | 1 | |
Natural variantiVAR_016897 | 141 | C → R in DRD. 1 Publication | 1 | |
Natural variantiVAR_002639 | 141 | C → W in DRD. 1 Publication | 1 | |
Natural variantiVAR_002640 | 144 | H → P in DRD. 1 PublicationCorresponds to variant dbSNP:rs104894440EnsemblClinVar. | 1 | |
Natural variantiVAR_002641 | 153 | H → P in DRD. 1 Publication | 1 | |
Natural variantiVAR_016898 | 163 | L → R in DRD. 1 Publication | 1 | |
Natural variantiVAR_016899 | 176 | S → T in DRD. 1 Publication | 1 | |
Natural variantiVAR_002642 | 178 | R → S in DRD. 3 Publications | 1 | |
Natural variantiVAR_016900 | 180 | Q → R in DRD. 1 Publication | 1 | |
Natural variantiVAR_002644 | 186 | T → K in DRD. 1 Publication | 1 | |
Natural variantiVAR_016901 | 191 | V → I in DRD. 1 PublicationCorresponds to variant dbSNP:rs762208304Ensembl. | 1 | |
Natural variantiVAR_016902 | 199 | P → L in DRD. 1 Publication | 1 | |
Natural variantiVAR_002645 | 201 | G → E in DRD. 2 PublicationsCorresponds to variant dbSNP:rs104894438EnsemblClinVar. | 1 | |
Natural variantiVAR_002646 | 203 | G → R in DRD. 1 PublicationCorresponds to variant dbSNP:rs988395114EnsemblClinVar. | 1 | |
Natural variantiVAR_016903 | 211 | M → V in DRD. 1 Publication | 1 | |
Natural variantiVAR_016904 | 213 | M → V in DRD. 1 PublicationCorresponds to variant dbSNP:rs1348562494Ensembl. | 1 | |
Natural variantiVAR_002648 | 224 | K → R in HPABH4B and DRD; phenotype presenting with dystonia and myoclonus. 3 PublicationsCorresponds to variant dbSNP:rs41298442EnsemblClinVar. | 1 | |
Natural variantiVAR_002649 | 234 | F → S in DRD. 1 Publication | 1 | |
Natural variantiVAR_016906 | 241 | R → W in DRD. 1 PublicationCorresponds to variant dbSNP:rs1375209791Ensembl. | 1 | |
Natural variantiVAR_016907 | 249 | R → S in DRD. 1 PublicationCorresponds to variant dbSNP:rs104894442EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Dystonia, Parkinsonism, PhenylketonuriaOrganism-specific databases
DisGeNETi | 2643 |
GeneReviewsi | GCH1 |
MalaCardsi | GCH1 |
MIMi | 128230, phenotype 233910, phenotype |
OpenTargetsi | ENSG00000131979 |
Orphaneti | 98808, Autosomal dominant dopa-responsive dystonia 2102, GTP cyclohydrolase I deficiency |
PharmGKBi | PA28608 |
Miscellaneous databases
Pharosi | P30793, Tbio |
Chemistry databases
DrugBanki | DB02377, Guanine |
Genetic variation databases
BioMutai | GCH1 |
DMDMi | 399536 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000119478 | 1 – 250 | GTP cyclohydrolase 1Add BLAST | 250 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 60 | PhosphoserineCombined sources | 1 | |
Modified residuei | 81 | Phosphoserine1 Publication | 1 |
Post-translational modificationi
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | P30793 |
MassIVEi | P30793 |
MaxQBi | P30793 |
PaxDbi | P30793 |
PeptideAtlasi | P30793 |
PRIDEi | P30793 |
ProteomicsDBi | 54735 [P30793-1] 54736 [P30793-2] 54737 [P30793-3] 54738 [P30793-4] |
PTM databases
iPTMneti | P30793 |
PhosphoSitePlusi | P30793 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000131979, Expressed in secondary oocyte and 215 other tissues |
ExpressionAtlasi | P30793, baseline and differential |
Genevisiblei | P30793, HS |
Organism-specific databases
HPAi | ENSG00000131979, Tissue enhanced (bone marrow, liver) |
Interactioni
Subunit structurei
Toroid-shaped homodecamer, composed of a dimer of pentamers. The inactive isoforms also form decamers and may possibly be incorporated into GCH1 heterodecamers, decreasing enzyme stability and activity.
Interacts with AHSA1 and GCHFR/GFRP.
3 PublicationsBinary interactionsi
P30793
With | #Exp. | IntAct |
---|---|---|
AHSA1 [O95433] | 3 | EBI-958183,EBI-448610 |
TNPO2 - isoform 2 [O14787-2] | 3 | EBI-958183,EBI-12076664 |
TNPO3 [Q9Y5L0] | 3 | EBI-958183,EBI-1042571 |
YWHAZ [P63104] | 4 | EBI-958183,EBI-347088 |
GO - Molecular functioni
- GTP-dependent protein binding Source: Ensembl
- identical protein binding Source: UniProtKB
- mitogen-activated protein kinase binding Source: ParkinsonsUK-UCL
- protein homodimerization activity Source: UniProtKB
- translation initiation factor binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 108913, 68 interactors |
IntActi | P30793, 33 interactors |
MINTi | P30793 |
STRINGi | 9606.ENSP00000419045 |
Miscellaneous databases
RNActi | P30793, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | P30793 |
SMRi | P30793 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P30793 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 64 | DisorderedSequence analysisAdd BLAST | 64 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 50 – 64 | Basic and acidic residuesSequence analysisAdd BLAST | 15 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG2698, Eukaryota |
GeneTreei | ENSGT00390000013481 |
HOGENOMi | CLU_049768_1_3_1 |
InParanoidi | P30793 |
OMAi | CEHMCMS |
PhylomeDBi | P30793 |
TreeFami | TF105616 |
Family and domain databases
Gene3Di | 1.10.286.10, 1 hit 3.30.1130.10, 1 hit |
HAMAPi | MF_00223, FolE, 1 hit |
InterProi | View protein in InterPro IPR043133, GTP-CH-I_C/QueF IPR043134, GTP-CH-I_N IPR001474, GTP_CycHdrlase_I IPR018234, GTP_CycHdrlase_I_CS IPR020602, GTP_CycHdrlase_I_dom |
PANTHERi | PTHR11109, PTHR11109, 1 hit |
Pfami | View protein in Pfam PF01227, GTP_cyclohydroI, 1 hit |
TIGRFAMsi | TIGR00063, folE, 1 hit |
PROSITEi | View protein in PROSITE PS00859, GTP_CYCLOHYDROL_1_1, 1 hit PS00860, GTP_CYCLOHYDROL_1_2, 1 hit |
s (4)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEKGPVRAPA EKPRGARCSN GFPERDPPRP GPSRPAEKPP RPEAKSAQPA
60 70 80 90 100
DGWKGERPRS EEDNELNLPN LAAAYSSILS SLGENPQRQG LLKTPWRAAS
110 120 130 140 150
AMQFFTKGYQ ETISDVLNDA IFDEDHDEMV IVKDIDMFSM CEHHLVPFVG
160 170 180 190 200
KVHIGYLPNK QVLGLSKLAR IVEIYSRRLQ VQERLTKQIA VAITEALRPA
210 220 230 240 250
GVGVVVEATH MCMVMRGVQK MNSKTVTSTM LGVFREDPKT REEFLTLIRS
The sequence of this isoform differs from the canonical sequence as follows:
210-213: HMCM → SAEP
214-250: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
210-250: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
210-233: HMCMVMRGVQKMNSKTVTSTMLGV → KSNKYNKGLSPLLSSCHLFVAILK
234-250: Missing.
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 11 | E → G in AAD38866 (PubMed:11284739).Curated | 1 | |
Sequence conflicti | 206 | V → I in CAA78908 (PubMed:1482676).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_002632 | 15 | G → D in HGCH-3. | 1 | |
Natural variantiVAR_002633 | 23 | P → L in DRD. 1 PublicationCorresponds to variant dbSNP:rs41298432EnsemblClinVar. | 1 | |
Natural variantiVAR_016888 | 71 | L → Q in DRD. 1 Publication | 1 | |
Natural variantiVAR_016889 | 74 | A → V in DRD. 1 Publication | 1 | |
Natural variantiVAR_072733 | 75 | Y → C Found in patients with DRD; unknown pathological significance. | 1 | |
Natural variantiVAR_002634 | 79 | L → P in DRD. 1 Publication | 1 | |
Natural variantiVAR_016890 | 83 | G → A in DRD. 2 Publications | 1 | |
Natural variantiVAR_016891 | 88 – 89 | Missing in DRD. 1 Publication | 2 | |
Natural variantiVAR_002635 | 88 | R → P in DRD. 1 Publication | 1 | |
Natural variantiVAR_002636 | 88 | R → W in DRD. 1 PublicationCorresponds to variant dbSNP:rs104894433EnsemblClinVar. | 1 | |
Natural variantiVAR_016892 | 90 | G → V in DRD. 1 Publication | 1 | |
Natural variantiVAR_072734 | 98 | A → V. | 1 | |
Natural variantiVAR_002637 | 102 | M → K in DRD. 1 Publication | 1 | |
Natural variantiVAR_016893 | 102 | M → R in DRD. 1 Publication | 1 | |
Natural variantiVAR_054112 | 106 | T → I in DRD. 1 Publication | 1 | |
Natural variantiVAR_016894 | 108 | G → D in HPABH4B; intermediate phenotype presenting with dystonia and motor delay. 1 PublicationCorresponds to variant dbSNP:rs104894435EnsemblClinVar. | 1 | |
Natural variantiVAR_016895 | 115 | D → N in DRD. 1 PublicationCorresponds to variant dbSNP:rs1393095176EnsemblClinVar. | 1 | |
Natural variantiVAR_002638 | 134 | D → V in DRD. 1 PublicationCorresponds to variant dbSNP:rs104894437EnsemblClinVar. | 1 | |
Natural variantiVAR_016896 | 135 | I → K in DRD. 1 PublicationCorresponds to variant dbSNP:rs104894441EnsemblClinVar. | 1 | |
Natural variantiVAR_072735 | 135 | I → T. | 1 | |
Natural variantiVAR_016897 | 141 | C → R in DRD. 1 Publication | 1 | |
Natural variantiVAR_002639 | 141 | C → W in DRD. 1 Publication | 1 | |
Natural variantiVAR_002640 | 144 | H → P in DRD. 1 PublicationCorresponds to variant dbSNP:rs104894440EnsemblClinVar. | 1 | |
Natural variantiVAR_002641 | 153 | H → P in DRD. 1 Publication | 1 | |
Natural variantiVAR_016898 | 163 | L → R in DRD. 1 Publication | 1 | |
Natural variantiVAR_016899 | 176 | S → T in DRD. 1 Publication | 1 | |
Natural variantiVAR_002642 | 178 | R → S in DRD. 3 Publications | 1 | |
Natural variantiVAR_016900 | 180 | Q → R in DRD. 1 Publication | 1 | |
Natural variantiVAR_002643 | 184 | R → H in HPABH4B; severe hyperphenylalaninemia. 1 PublicationCorresponds to variant dbSNP:rs104894445EnsemblClinVar. | 1 | |
Natural variantiVAR_002644 | 186 | T → K in DRD. 1 Publication | 1 | |
Natural variantiVAR_016901 | 191 | V → I in DRD. 1 PublicationCorresponds to variant dbSNP:rs762208304Ensembl. | 1 | |
Natural variantiVAR_016902 | 199 | P → L in DRD. 1 Publication | 1 | |
Natural variantiVAR_002645 | 201 | G → E in DRD. 2 PublicationsCorresponds to variant dbSNP:rs104894438EnsemblClinVar. | 1 | |
Natural variantiVAR_002646 | 203 | G → R in DRD. 1 PublicationCorresponds to variant dbSNP:rs988395114EnsemblClinVar. | 1 | |
Natural variantiVAR_002647 | 211 | M → I in HPABH4B; severe hyperphenylalaninemia. 1 PublicationCorresponds to variant dbSNP:rs104894443EnsemblClinVar. | 1 | |
Natural variantiVAR_016903 | 211 | M → V in DRD. 1 Publication | 1 | |
Natural variantiVAR_016904 | 213 | M → V in DRD. 1 PublicationCorresponds to variant dbSNP:rs1348562494Ensembl. | 1 | |
Natural variantiVAR_016905 | 221 | M → T in HPABH4B; intermediate phenotype presenting with dystonia and motor delay. 1 PublicationCorresponds to variant dbSNP:rs104894434EnsemblClinVar. | 1 | |
Natural variantiVAR_002648 | 224 | K → R in HPABH4B and DRD; phenotype presenting with dystonia and myoclonus. 3 PublicationsCorresponds to variant dbSNP:rs41298442EnsemblClinVar. | 1 | |
Natural variantiVAR_002649 | 234 | F → S in DRD. 1 Publication | 1 | |
Natural variantiVAR_016906 | 241 | R → W in DRD. 1 PublicationCorresponds to variant dbSNP:rs1375209791Ensembl. | 1 | |
Natural variantiVAR_016907 | 249 | R → S in DRD. 1 PublicationCorresponds to variant dbSNP:rs104894442EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_001610 | 210 – 250 | Missing in isoform GCH-3. 1 PublicationAdd BLAST | 41 | |
Alternative sequenceiVSP_001611 | 210 – 233 | HMCMV…TMLGV → KSNKYNKGLSPLLSSCHLFV AILK in isoform GCH-4. 1 PublicationAdd BLAST | 24 | |
Alternative sequenceiVSP_001612 | 210 – 213 | HMCM → SAEP in isoform GCH-2. 2 Publications | 4 | |
Alternative sequenceiVSP_001613 | 214 – 250 | Missing in isoform GCH-2. 2 PublicationsAdd BLAST | 37 | |
Alternative sequenceiVSP_001614 | 234 – 250 | Missing in isoform GCH-4. 1 PublicationAdd BLAST | 17 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | S44049 mRNA Translation: AAB23164.1 S44053 mRNA Translation: AAB23165.1 S43856 mRNA Translation: AAB23166.1 Z29433 mRNA Translation: CAB77391.1 Z29434 mRNA Translation: CAB77392.1 U19523 mRNA Translation: AAB16861.1 U66095 mRNA Translation: AAD38866.1 U66097 mRNA Translation: AAD38868.1 CR536551 mRNA Translation: CAG38788.1 CH471061 Genomic DNA Translation: EAW80647.1 BC025415 mRNA Translation: AAH25415.1 L29478 Genomic DNA Translation: AAB42186.1 Z30952 Genomic DNA Translation: CAA83213.1 Z16418 mRNA Translation: CAA78908.1 U19259 , U19256, U19257, U19258 Genomic DNA Translation: AAB60633.1 |
CCDSi | CCDS41954.1 [P30793-4] CCDS45110.1 [P30793-2] CCDS9720.1 [P30793-1] |
PIRi | G01630, PC1117 JC1225 |
RefSeqi | NP_000152.1, NM_000161.2 [P30793-1] NP_001019195.1, NM_001024024.1 [P30793-1] NP_001019241.1, NM_001024070.1 [P30793-4] NP_001019242.1, NM_001024071.1 [P30793-2] |
Genome annotation databases
Ensembli | ENST00000395514.5; ENSP00000378890.1; ENSG00000131979.20 ENST00000491895.7; ENSP00000419045.2; ENSG00000131979.20 ENST00000536224.2; ENSP00000445246.2; ENSG00000131979.20 [P30793-2] ENST00000543643.6; ENSP00000444011.2; ENSG00000131979.20 [P30793-4] |
GeneIDi | 2643 |
KEGGi | hsa:2643 |
MANE-Selecti | ENST00000491895.7; ENSP00000419045.2; NM_000161.3; NP_000152.1 |
UCSCi | uc001xbh.2, human [P30793-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | S44049 mRNA Translation: AAB23164.1 S44053 mRNA Translation: AAB23165.1 S43856 mRNA Translation: AAB23166.1 Z29433 mRNA Translation: CAB77391.1 Z29434 mRNA Translation: CAB77392.1 U19523 mRNA Translation: AAB16861.1 U66095 mRNA Translation: AAD38866.1 U66097 mRNA Translation: AAD38868.1 CR536551 mRNA Translation: CAG38788.1 CH471061 Genomic DNA Translation: EAW80647.1 BC025415 mRNA Translation: AAH25415.1 L29478 Genomic DNA Translation: AAB42186.1 Z30952 Genomic DNA Translation: CAA83213.1 Z16418 mRNA Translation: CAA78908.1 U19259 , U19256, U19257, U19258 Genomic DNA Translation: AAB60633.1 |
CCDSi | CCDS41954.1 [P30793-4] CCDS45110.1 [P30793-2] CCDS9720.1 [P30793-1] |
PIRi | G01630, PC1117 JC1225 |
RefSeqi | NP_000152.1, NM_000161.2 [P30793-1] NP_001019195.1, NM_001024024.1 [P30793-1] NP_001019241.1, NM_001024070.1 [P30793-4] NP_001019242.1, NM_001024071.1 [P30793-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1FB1 | X-ray | 3.10 | A/B/C/D/E | 55-250 | [»] | |
6Z80 | electron microscopy | 3.00 | A/B/C/D/E/F/G/H/I/J | 41-250 | [»] | |
6Z85 | electron microscopy | 2.90 | A/B/C/D/E/F/G/H/I/J | 41-250 | [»] | |
6Z86 | X-ray | 2.21 | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T | 41-250 | [»] | |
6Z87 | X-ray | 2.56 | A/B/C/D/E | 41-250 | [»] | |
6Z88 | X-ray | 2.69 | A/B/C/D/E/F/G/H/I/J | 41-250 | [»] | |
6Z89 | X-ray | 2.37 | A/B/C/D/E | 41-250 | [»] | |
7ALA | X-ray | 1.85 | A/B/C/D/E | 42-250 | [»] | |
7ALB | X-ray | 1.98 | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T | 42-250 | [»] | |
7ALC | X-ray | 1.73 | A/B/C/D/E | 42-250 | [»] | |
7ALQ | X-ray | 2.21 | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T | 42-250 | [»] | |
AlphaFoldDBi | P30793 | |||||
SMRi | P30793 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108913, 68 interactors |
IntActi | P30793, 33 interactors |
MINTi | P30793 |
STRINGi | 9606.ENSP00000419045 |
Chemistry databases
DrugBanki | DB02377, Guanine |
PTM databases
iPTMneti | P30793 |
PhosphoSitePlusi | P30793 |
Genetic variation databases
BioMutai | GCH1 |
DMDMi | 399536 |
Proteomic databases
EPDi | P30793 |
MassIVEi | P30793 |
MaxQBi | P30793 |
PaxDbi | P30793 |
PeptideAtlasi | P30793 |
PRIDEi | P30793 |
ProteomicsDBi | 54735 [P30793-1] 54736 [P30793-2] 54737 [P30793-3] 54738 [P30793-4] |
Protocols and materials databases
Antibodypediai | 23963, 330 antibodies from 35 providers |
DNASUi | 2643 |
Genome annotation databases
Ensembli | ENST00000395514.5; ENSP00000378890.1; ENSG00000131979.20 ENST00000491895.7; ENSP00000419045.2; ENSG00000131979.20 ENST00000536224.2; ENSP00000445246.2; ENSG00000131979.20 [P30793-2] ENST00000543643.6; ENSP00000444011.2; ENSG00000131979.20 [P30793-4] |
GeneIDi | 2643 |
KEGGi | hsa:2643 |
MANE-Selecti | ENST00000491895.7; ENSP00000419045.2; NM_000161.3; NP_000152.1 |
UCSCi | uc001xbh.2, human [P30793-1] |
Organism-specific databases
CTDi | 2643 |
DisGeNETi | 2643 |
GeneCardsi | GCH1 |
GeneReviewsi | GCH1 |
HGNCi | HGNC:4193, GCH1 |
HPAi | ENSG00000131979, Tissue enhanced (bone marrow, liver) |
MalaCardsi | GCH1 |
MIMi | 128230, phenotype 233910, phenotype 600225, gene |
neXtProti | NX_P30793 |
OpenTargetsi | ENSG00000131979 |
Orphaneti | 98808, Autosomal dominant dopa-responsive dystonia 2102, GTP cyclohydrolase I deficiency |
PharmGKBi | PA28608 |
VEuPathDBi | HostDB:ENSG00000131979 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2698, Eukaryota |
GeneTreei | ENSGT00390000013481 |
HOGENOMi | CLU_049768_1_3_1 |
InParanoidi | P30793 |
OMAi | CEHMCMS |
PhylomeDBi | P30793 |
TreeFami | TF105616 |
Enzyme and pathway databases
UniPathwayi | UPA00848;UER00151 |
BRENDAi | 3.5.4.16, 2681 |
PathwayCommonsi | P30793 |
Reactomei | R-HSA-1474151, Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation |
SABIO-RKi | P30793 |
SignaLinki | P30793 |
SIGNORi | P30793 |
Miscellaneous databases
BioGRID-ORCSi | 2643, 14 hits in 1092 CRISPR screens |
ChiTaRSi | GCH1, human |
EvolutionaryTracei | P30793 |
GeneWikii | GTP_cyclohydrolase_I |
GenomeRNAii | 2643 |
Pharosi | P30793, Tbio |
PROi | PR:P30793 |
RNActi | P30793, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000131979, Expressed in secondary oocyte and 215 other tissues |
ExpressionAtlasi | P30793, baseline and differential |
Genevisiblei | P30793, HS |
Family and domain databases
Gene3Di | 1.10.286.10, 1 hit 3.30.1130.10, 1 hit |
HAMAPi | MF_00223, FolE, 1 hit |
InterProi | View protein in InterPro IPR043133, GTP-CH-I_C/QueF IPR043134, GTP-CH-I_N IPR001474, GTP_CycHdrlase_I IPR018234, GTP_CycHdrlase_I_CS IPR020602, GTP_CycHdrlase_I_dom |
PANTHERi | PTHR11109, PTHR11109, 1 hit |
Pfami | View protein in Pfam PF01227, GTP_cyclohydroI, 1 hit |
TIGRFAMsi | TIGR00063, folE, 1 hit |
PROSITEi | View protein in PROSITE PS00859, GTP_CYCLOHYDROL_1_1, 1 hit PS00860, GTP_CYCLOHYDROL_1_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | GCH1_HUMAN | |
Accessioni | P30793Primary (citable) accession number: P30793 Secondary accession number(s): Q6FHY7, Q9Y4I8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 1, 1993 |
Last sequence update: | July 1, 1993 | |
Last modified: | May 25, 2022 | |
This is version 217 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families