GCH1 - Gene info - The Human Protein Atlas

Gene name

GCH1 (HGNC Symbol)

Synonyms

DYT14, DYT5, DYT5a, GCH, GTPCH1

Description

GTP cyclohydrolase 1 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

Cytoband

q22.2

Chromosome location (bp)

54842008 - 54902852

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000131979 (version 78.38)

Entrez gene

2643

UniProt

P30793 (UniProt - Evidence at protein level)

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GCH1-002

ENSP00000419045
ENST00000491895

P30793
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P30793 [Direct mapping]
GTP cyclohydrolase 1
A0A024R642 [Target identity:100%; Query identity:100%]
GTP cyclohydrolase 1 (Dopa-responsive dystonia), isoform CRA_a {ECO:0000313|EMBL:EAW80648.1}
Q8IZH9 [Target identity:70%; Query identity:100%]
GTP cyclohydrolase I type IV {ECO:0000313|EMBL:AAN17459.1}
Q96T74 [Target identity:31%; Query identity:100%]
GTP cyclohydrolase I {ECO:0000313|EMBL:AAK51704.1}

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Enzymes
ENZYME proteins
Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)

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GO:0003934 [GTP cyclohydrolase I activity]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006184 [GTP catabolic process]
GO:0006461 [protein complex assembly]
GO:0006729 [tetrahydrobiopterin biosynthetic process]
GO:0006809 [nitric oxide biosynthetic process]
GO:0008152 [metabolic process]
GO:0008217 [regulation of blood pressure]
GO:0008270 [zinc ion binding]
GO:0014916 [regulation of lung blood pressure]
GO:0030742 [GTP-dependent protein binding]
GO:0031410 [cytoplasmic vesicle]
GO:0031965 [nuclear membrane]
GO:0032496 [response to lipopolysaccharide]
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:0042803 [protein homodimerization activity]
GO:0043234 [protein complex]
GO:0044281 [small molecule metabolic process]
GO:0045776 [negative regulation of blood pressure]
GO:0046209 [nitric oxide metabolic process]
GO:0046654 [tetrahydrofolate biosynthetic process]
GO:0048265 [response to pain]
GO:0050662 [coenzyme binding]
GO:0050884 [neuromuscular process controlling posture]
GO:0050999 [regulation of nitric-oxide synthase activity]
GO:0051000 [positive regulation of nitric-oxide synthase activity]
GO:0051066 [dihydrobiopterin metabolic process]
GO:0051260 [protein homooligomerization]
GO:0051291 [protein heterooligomerization]

250

27.9

GCH1-003

ENSP00000444011
ENST00000543643

P30793
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P30793 [Direct mapping]
GTP cyclohydrolase 1

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Enzymes
ENZYME proteins
Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)

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GO:0003934 [GTP cyclohydrolase I activity]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006184 [GTP catabolic process]
GO:0006729 [tetrahydrobiopterin biosynthetic process]
GO:0006809 [nitric oxide biosynthetic process]
GO:0008152 [metabolic process]
GO:0008217 [regulation of blood pressure]
GO:0008270 [zinc ion binding]
GO:0031410 [cytoplasmic vesicle]
GO:0031965 [nuclear membrane]
GO:0032496 [response to lipopolysaccharide]
GO:0034341 [response to interferon-gamma]
GO:0034612 [response to tumor necrosis factor]
GO:0035998 [7,8-dihydroneopterin 3'-triphosphate biosynthetic process]
GO:0042416 [dopamine biosynthetic process]
GO:0042559 [pteridine-containing compound biosynthetic process]
GO:0042803 [protein homodimerization activity]
GO:0043234 [protein complex]
GO:0044281 [small molecule metabolic process]
GO:0046209 [nitric oxide metabolic process]
GO:0046654 [tetrahydrofolate biosynthetic process]
GO:0048265 [response to pain]
GO:0050884 [neuromuscular process controlling posture]
GO:0050999 [regulation of nitric-oxide synthase activity]
GO:0051000 [positive regulation of nitric-oxide synthase activity]
GO:0051260 [protein homooligomerization]

233

25.8

GCH1-004

ENSP00000445246
ENST00000536224

P30793
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P30793 [Direct mapping]
GTP cyclohydrolase 1

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Enzymes
ENZYME proteins
Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)

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213

23.5

GCH1-201

ENSP00000378890
ENST00000395514

P30793
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Enzymes
ENZYME proteins
Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)

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250

27.9

GCH1-202

ENSP00000477796
ENST00000622544

P30793
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Enzymes
ENZYME proteins
Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)

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250

27.9

The Human Protein Atlas project is funded by the Knut & Alice Wallenberg foundation.