GCH1 (GTP cyclohydrolase 1)

2008-10-01  

Identity

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

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

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

References

Pubmed IDYearTitleCitations
380846542024Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1.0
387573412024Long non‑coding RNA lung cancer‑associated transcript 1 regulates ferroptosis via microRNA‑34a‑5p‑mediated GTP cyclohydrolase 1 downregulation in lung cancer cells.0
380846542024Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1.0
387573412024Long non‑coding RNA lung cancer‑associated transcript 1 regulates ferroptosis via microRNA‑34a‑5p‑mediated GTP cyclohydrolase 1 downregulation in lung cancer cells.0
374634662023GTP Cyclohydrolase Drives Breast Cancer Development and Promotes EMT in an Enzyme-Independent Manner.1
374634662023GTP Cyclohydrolase Drives Breast Cancer Development and Promotes EMT in an Enzyme-Independent Manner.1
346743842022Association analysis of SYT11, FGF20, GCH1 rare variants in Parkinson's disease.3
362667312022CircLRFN5 inhibits the progression of glioblastoma via PRRX2/GCH1 mediated ferroptosis.35
363999572022Nitrosative stress induced by homocysteine thiolactone drives vascular cognitive impairments via GTP cyclohydrolase 1 S-nitrosylation in vivo.4
346743842022Association analysis of SYT11, FGF20, GCH1 rare variants in Parkinson's disease.3
362667312022CircLRFN5 inhibits the progression of glioblastoma via PRRX2/GCH1 mediated ferroptosis.35
363999572022Nitrosative stress induced by homocysteine thiolactone drives vascular cognitive impairments via GTP cyclohydrolase 1 S-nitrosylation in vivo.4
323639082021Oxidative Stress, GTPCH1, and Endothelial Nitric Oxide Synthase Uncoupling in Hypertension.35
326620442021Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India.1
330874202021Brain structural alterations in patients with GCH1 mutations associated DOPA-responsive dystonia.0

Citation

Dessen P

GCH1 (GTP cyclohydrolase 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-10-01

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