Property Summary

NCBI Gene PubMed Count 168
PubMed Score 613.39
PubTator Score 465.99

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
breast carcinoma 1614 1.04375146992699E-15
juvenile dermatomyositis 1189 2.64932610679309E-13
malignant mesothelioma 3163 6.34983967040282E-8
lung cancer 4473 1.08250118263787E-5
lung carcinoma 2844 2.89121450636771E-5
psoriasis 6685 3.29833940284992E-4
ductal carcinoma in situ 1745 3.35345579905929E-4
primary Sjogren syndrome 789 6.46777207277512E-4
ovarian cancer 8492 9.97757044890294E-4
medulloblastoma, large-cell 6234 0.00104232686386061
urothelial carcinoma 318 0.0014881453577725
cutaneous lupus erythematosus 1056 0.00191388523054443
group 4 medulloblastoma 1875 0.00283858568448112
pancreatic ductal adenocarcinoma liver metastasis 1795 0.00345315805258653
dermatomyositis 967 0.0133860644024239
invasive ductal carcinoma 2950 0.0134679172883664
oligodendroglioma 2849 0.0174831814527755
osteosarcoma 7933 0.0250960517167622
aldosterone-producing adenoma 664 0.0291946702053
primitive neuroectodermal tumor 3031 0.0298837378819601
sarcoidosis 368 0.0324695008527051
Bipolar Disorder 266 0.0387241915810065
glioblastoma 5572 0.044918785343953
Disease Target Count Z-score Confidence
Rheumatoid Arthritis 1171 0.0 1.0
Disease Target Count Z-score Confidence
Dystonia 77 7.248 3.6
Parkinson's disease 364 4.68 2.3
Phenylketonuria 18 3.376 1.7

Expression

  Differential Expression (23)

Disease log2 FC p
urothelial carcinoma -1.500 0.001
malignant mesothelioma -2.300 0.000
oligodendroglioma -2.300 0.017
psoriasis 1.700 0.000
cutaneous lupus erythematosus 1.800 0.002
osteosarcoma -1.429 0.025
group 4 medulloblastoma -2.100 0.003
glioblastoma 1.400 0.045
medulloblastoma, large-cell -1.900 0.001
primitive neuroectodermal tumor 1.300 0.030
juvenile dermatomyositis 2.553 0.000
pancreatic ductal adenocarcinoma liver m... -3.420 0.003
lung cancer -2.700 0.000
sarcoidosis 1.500 0.032
primary Sjogren syndrome 1.600 0.001
aldosterone-producing adenoma -1.511 0.029
lung carcinoma 1.100 0.000
breast carcinoma 1.100 0.000
Bipolar Disorder 1.019 0.039
ductal carcinoma in situ 1.600 0.000
invasive ductal carcinoma 1.800 0.013
ovarian cancer 2.100 0.001
dermatomyositis 2.200 0.013

Synonym

Accession P30793 Q6FHY7 Q9Y4I8
Symbols GCH
DYT5
DYT14
DYT5a
GTPCH1
HPABH4B
GTP-CH-1

Gene

PANTHER Protein Class (1)

PDB

1FB1  

  Ortholog (14)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum EggNOG Inparanoid
Chicken OMA EggNOG Inparanoid
Anole lizard EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid
Zebrafish OMA Inparanoid
C. elegans OMA EggNOG Inparanoid
Fruitfly OMA Inparanoid
S.cerevisiae OMA EggNOG Inparanoid

Gene RIF (123)

PMID Text
26400349 Exonic deletion in the GCH1 gene only accounted for the etiology in a small percentage of patients with sporadic dopa-responsive dystonia in our Han Chinese cohort.
26215833 The risk of orofacial clefts is associated with variants of the GCH1 gene related to BH4 metabolism.
25783971 No association was seen between the pain protective GCH-1 haplotype and the development of hypersensitivity following injury. An increase in baseline pain thresholds was seen between visits in protective haplotype carriers who sensitized to injury.
25634433 identified a novel missense variant, c.5A > G, p.(Glu2Gly), within the GCH1 gene in affected family members displaying a range of phenotypes; variant is pathogenic in studied family and may underlie Parkinson's disease and Dopa-responsive dystonia
25599448 Postherniotomy pain and related activity impairment was associated with functional variations in GCH1 (and COMT).
25369080 Five polymorphisms forming two haplotype blocks within the GTP cyclohydrolase 1 gene are associated with endothelial dysfunction and oxidative stress.
25270546 This is the first study to report changes in the expression of GTP Cyclohydrolase I of this gene in schizophrenia.
25192508 DYT5 is caused by heterozygous mutations of the GCH1 gene, located on 14q22.1-q22.2[review]
25119902 A novel GCH1 gene frameshifing mutation is aooociated with the dopa-responsive dystonia in a Chinese family.
24993959 Rare GCH1 variants are associated with an increased risk for Parkinson's disease.
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AA Sequence

MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPADGWKGERPRSEEDNELNLPN      1 - 70
LAAAYSSILSSLGENPQRQGLLKTPWRAASAMQFFTKGYQETISDVLNDAIFDEDHDEMVIVKDIDMFSM     71 - 140
CEHHLVPFVGKVHIGYLPNKQVLGLSKLARIVEIYSRRLQVQERLTKQIAVAITEALRPAGVGVVVEATH    141 - 210
MCMVMRGVQKMNSKTVTSTMLGVFREDPKTREEFLTLIRS                                  211 - 250
//

Text Mined References (176)

PMID Year Title
26400349 2015 Han Chinese patients with dopa-responsive dystonia exhibit a low frequency of exonic deletion in the GCH1 gene.
26215833 2016 Nucleotide Variants of the BH4 Biosynthesis Pathway Gene GCH1 and the Risk of Orofacial Clefts.
25783971 2015 Evidence of a role for GTP cyclohydrolase-1 in visceral pain.
25634433 2015 Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease.
25599448 2015 Association of functional variations in COMT and GCH1 genes with postherniotomy pain and related impairment.
25369080 2014 GTP cyclohydrolase I gene polymorphisms are associated with endothelial dysfunction and oxidative stress in patients with type 2 diabetes mellitus.
25270546 2014 Changes in gene expression and methylation in the blood of patients with first-episode psychosis.
25192508 2014 Genetics and pathophysiology of primary dystonia with special emphasis on DYT1 and DYT5.
25119902 2014 [A novel mutation in GCH1 gene causes dopa-responsive dystonia].
25064009 2014 Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
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