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GCH1

GENERAL INFORMATION

Gene name

 GCH1

Gene description

 GTP cyclohydrolase 1

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 5
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (bone marrow)
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic and nuclear expression in several tissues, most abundant in basal cells of squamous epithelia.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data. Presumed off target binding observed and disregarded.

Reliability score

 Approved based on 1 antibody.
HPA028612
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Vagina

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (bone marrow)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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

 14

Cytoband

 q22.2

Chromosome location (bp)

 54842008 - 54902852

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000131979 (version 83.38)

Entrez gene

 2643

UniProt

 P30793 (UniProt - Evidence at protein level)

neXtProt

 NX_P30793

Antibodypedia

 GCH1 antibodies

PROTEIN BROWSER
GCH1-002
GCH1-003
GCH1-004
GCH1-201
GCH1-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
GCH1-002
ENSP00000419045
ENST00000491895
P30793 [Direct mapping]
GTP cyclohydrolase 1
A0A024R642 [Target identity:100%; Query identity:100%]
GTP cyclohydrolase 1 (Dopa-responsive dystonia), isoform CRA_a
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Show all
GO:0003934 [GTP cyclohydrolase I activity]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006461 [protein complex assembly]
GO:0006729 [tetrahydrobiopterin biosynthetic process]
GO:0006809 [nitric oxide biosynthetic 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]
GO:2000121 [regulation of removal of superoxide radicals]
Show all
 250 aa
27.9 kDa 		No 0
GCH1-003
ENSP00000444011
ENST00000543643
P30793 [Direct mapping]
GTP cyclohydrolase 1
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Show all
GO:0003934 [GTP cyclohydrolase I activity]
GO:0005515 [protein 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: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]
GO:2000121 [regulation of removal of superoxide radicals]
Show all
 233 aa
25.8 kDa 		No 0
GCH1-004
ENSP00000445246
ENST00000536224
P30793 [Direct mapping]
GTP cyclohydrolase 1
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Show all
GO:0003934 [GTP cyclohydrolase I activity]
GO:0005515 [protein 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: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]
GO:2000121 [regulation of removal of superoxide radicals]
Show all
 213 aa
23.5 kDa 		No 0
GCH1-201
ENSP00000378890
ENST00000395514
P30793 [Direct mapping]
GTP cyclohydrolase 1
A0A024R642 [Target identity:100%; Query identity:100%]
GTP cyclohydrolase 1 (Dopa-responsive dystonia), isoform CRA_a
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Show all
GO:0003934 [GTP cyclohydrolase I activity]
GO:0005515 [protein 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: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]
GO:2000121 [regulation of removal of superoxide radicals]
Show all
 250 aa
27.9 kDa 		No 0
GCH1-202
ENSP00000477796
ENST00000622544
P30793 [Direct mapping]
GTP cyclohydrolase 1
A0A024R642 [Target identity:100%; Query identity:100%]
GTP cyclohydrolase 1 (Dopa-responsive dystonia), isoform CRA_a
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Show all
GO:0003934 [GTP cyclohydrolase I activity]
GO:0005515 [protein 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: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]
GO:2000121 [regulation of removal of superoxide radicals]
Show all
 250 aa
27.9 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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