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Tbio
GCH1
GTP cyclohydrolase 1

Protein Classes
Protein Summary
Description
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. This 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000395514
  • ENSP00000378890
  • ENSG00000131979
  • ENST00000491895
  • ENSP00000419045
  • ENST00000536224
  • ENSP00000445246
  • ENST00000543643
  • ENSP00000444011
  • ENST00000622544
  • ENSP00000477796

Symbol
  • DYT5
  • GCH
  • GCH
  • DYT5
  • DYT14
  • DYT5a
  • GTPCH1
  • HPABH4B
  • GTP-CH-1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
molecular function
0.99
virus perturbation
0.96
gene perturbation
0.9
PubMedID
0.86
biological process
0.85


Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 401.14   (req: < 5)
Gene RIFs: 123   (req: <= 3)
Antibodies: 281   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 401.14   (req: >= 5)
Gene RIFs: 123   (req: > 3)
Antibodies: 281   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 31
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (11)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
creatine kinase measurement
1
2
2
87
mean corpuscular hemoglobin concentration
1
1
1
66.8
aspartate aminotransferase measurement
1
1
0
8.1
66
4
1
1
1.1
66
mean corpuscular volume
1
1
1
53.7
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
creatine kinase measurement
2
87
mean corpuscular hemoglobin concentration
1
66.8
aspartate aminotransferase measurement
0
8.1
66
1
1.1
66
mean corpuscular volume
1
53.7
Orthologs (14)
1 – 5 of 14
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
GTP cyclohydrolase 1
VGNC:3419
743728
Macaque
GTP cyclohydrolase 1
695675
Mouse
MGI:95675
14528
Rat
RGD:61992
29244
Dog
GTP cyclohydrolase 1
VGNC:41145
609393
Species
Name
OMA
EggNOG
Inparanoid
Chimp
GTP cyclohydrolase 1
Macaque
GTP cyclohydrolase 1
Mouse
Rat
Dog
GTP cyclohydrolase 1
Protein Structure (1 Structure, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P30793-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 1 of 1
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (21)
Metabolism (R-HSA-1430728)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Metabolism
Reactome
Metabolism of cofactors
Reactome
Metabolism of vitamins and cofactors
Reactome
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
Name
Explore in Pharos
Explore in Source
Metabolism
Metabolism of cofactors
Metabolism of vitamins and cofactors
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
Gene Ontology Terms (39)
Items per page:
10
1 – 10 of 10
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Physical Interaction (IPI)
ParkinsonsUK-UCL
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
Ensembl
Protein-Protein Interactions (172)
1 – 10 of 172
BTLA
Tbio
Novelty:  0.00770048
p_int:  0.941125474
p_ni:  0.056293631
p_wrong:  0.002580895
Data Source:  BioPlex
GCHFR
Tbio
Family:  Enzyme
Novelty:  0.04287433
Score:  0.996
Data Source:  Reactome,STRINGDB
PTS
Tbio
Family:  Enzyme
Novelty:  0.00279396
Score:  0.986
Data Source:  STRINGDB
MOCS1
Tclin
Novelty:  0.02785369
Score:  0.954
Data Source:  STRINGDB
SPR
Tchem
Family:  Enzyme
Novelty:  0.02144934
Score:  0.953
Data Source:  STRINGDB
TH
Tclin
Family:  Enzyme
Novelty:  0.00025719
Score:  0.926
Data Source:  STRINGDB
ALPI
Tchem
Family:  Enzyme
Novelty:  0.00559196
Score:  0.91
Data Source:  STRINGDB
ALPP
Tbio
Family:  Enzyme
Novelty:  0.0037276
Score:  0.91
Data Source:  STRINGDB
ALPL
Tchem
Family:  Enzyme
Novelty:  0.00152281
Score:  0.91
Data Source:  STRINGDB
ALPG
Tchem
Family:  Enzyme
Novelty:  0.00577814
Score:  0.91
Data Source:  STRINGDB
Publication Statistics
PubMed Score  401.14

PubMed score by year
PubTator Score  425.87

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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