GCH1

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Tissue enhanced (bone marrow)
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Basal cells of squamous and airway epithelia, and cells of breast and seminferus ducts showed strong cytoplasmic and nuclear positivity. Some glandular epithelial were moderately stained. Most other normal tissues were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA028612
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (bone marrow)

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

2643

UniProt

P30793 (UniProt - Evidence at protein level)

neXtProt

NX_P30793

Antibodypedia

GCH1 antibodies


PROTEIN BROWSER

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ENST00000395514
 
ENST00000491895
 
ENST00000536224
 
ENST00000543643
 
ENST00000622544
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GCH1-002 ENSP00000419045
ENST00000491895
P30793
Show all »
Show » Show » 250 27.9 No 0
GCH1-003 ENSP00000444011
ENST00000543643
P30793
Show all »
Show » Show » 233 25.8 No 0
GCH1-004 ENSP00000445246
ENST00000536224
P30793
Show all »
Show » Show » 213 23.5 No 0
GCH1-201 ENSP00000378890
ENST00000395514
P30793
Show all »
Show » Show » 250 27.9 No 0
GCH1-202 ENSP00000477796
ENST00000622544
P30793
Show all »
Show » Show » 250 27.9 No 0