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GCH1

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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

Summary

 Mainly localized to the nucleoplasm. In addition localized to the nuclear membrane & cytosol.

RNA cell category

 Cell line enhanced (SH-SY5Y)

Protein evidence

 Evidence at protein level

Main location

 Localized to the Nucleoplasm (supported)

Additional location

 In addition localized to the Nuclear membrane (supported), Cytosol (supported)

Single-cell variation

 Single-cell variation in protein expression observed.

Cell cycle dependency

 Cell cycle dependent expression determined by custom assay

DATA RELIABILITY

Reliability score

 Supported based on 1 antibody.
HPA028612
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ASSAYS
RNA expression
Human cells
Custom data

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (SH-SY5Y)
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Mainly localized to the nucleoplasm. In addition localized to the nuclear membrane & cytosol.

Main location

 Nucleoplasm (supported)

Additional location

 Nuclear membrane (supported), Cytosol (supported)

 

 

 
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Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA028612 A-431 Nucleoplasm
HPA028612 U-2 OS Nucleoplasm Intensity Intensity
Nuclear membrane
Cytosol
HPA028612 U-251 MG Nucleoplasm
Cytosol

CUSTOM DATA

 

 

 
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Thumbnail

Antibody

Cell line

Assay

Description
HPA028612 U-2 OS Image Staining of U-2 OS FUCCI cells, to characterize the cell cycle dependency of the protein expression pattern. The FUCCI cells, Fluorescence Ubiquitination Cell Cycle Indicator, are cells tagged with different fluorescent proteins fused to two different cell cycle regulators Cdt1 (expressed in G1 phase) and Geminin (expressed in S and G2 phases) that allows cell cycle monitoring. When both proteins are present, the overlay of the images appear in yellow marking the G1/S transition. GCH1 is mostly expressed at the G1/S checkpoint, and during S and/or G2.

CELL CYCLE

Summary

 Expression has cell cycle dependency according to custom assay

Intensity variation

 Nucleoplasm

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.