GCH1 (GTP cyclohydrolase 1)

2008-10-01  

Identity

HGNC
GCH1
LOCATION
14q22.2
LOCUSID
2643
ALIAS
DYT14,DYT5,DYT5a,GCH,GTP-CH-1,GTPCH1,HPABH4B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2643
MIM: 600225
HGNC: 4193
Ensembl: ENSG00000131979

Variants:

dbSNP: 2643
ClinVar: 2643
TCGA: ENSG00000131979
COSMIC: GCH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131979ENST00000395514P30793
ENSG00000131979ENST00000395514A0A024R642
ENSG00000131979ENST00000491895P30793
ENSG00000131979ENST00000491895A0A024R642
ENSG00000131979ENST00000536224P30793
ENSG00000131979ENST00000543643P30793
ENSG00000131979ENST00000622544P30793
ENSG00000131979ENST00000622544A0A024R642

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Folate biosynthesisKEGGko00790
Folate biosynthesisKEGGhsa00790
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of nitric oxideREACTOMER-HSA-202131
eNOS activation and regulationREACTOMER-HSA-203765
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulationREACTOMER-HSA-1474151

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
190112392009Quantitative regulation of intracellular endothelial nitric-oxide synthase (eNOS) coupling by both tetrahydrobiopterin-eNOS stoichiometry and biopterin redox status: insights from cells with tet-regulated GTP cyclohydrolase I expression.83
183746122008Reduced hyperalgesia in homozygous carriers of a GTP cyclohydrolase 1 haplotype.42
194911462009Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.35
129254502003Gene transfer of human guanosine 5'-triphosphate cyclohydrolase I restores vascular tetrahydrobiopterin level and endothelial function in low renin hypertension.34
177175982007Discovery of common human genetic variants of GTP cyclohydrolase 1 (GCH1) governing nitric oxide, autonomic activity, and cardiovascular risk.34
177175982007Discovery of common human genetic variants of GTP cyclohydrolase 1 (GCH1) governing nitric oxide, autonomic activity, and cardiovascular risk.34
190811902009Polymorphisms in the GTP cyclohydrolase gene (GCH1) are associated with ratings of capsaicin pain.31
190811902009Polymorphisms in the GTP cyclohydrolase gene (GCH1) are associated with ratings of capsaicin pain.31
193324222009Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.31

Citation

Dessen P

GCH1 (GTP cyclohydrolase 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-10-01

Online version: http://atlasgeneticsoncology.org/gene/50399/gch1