Property Summary

NCBI Gene PubMed Count 20
PubMed Score 32.12
PubTator Score 25.80

Knowledge Summary


No data available


  Disease Sources (2)

Disease Target Count P-value
non-small cell lung cancer 2798 3.76595874389698E-11
psoriasis 6685 1.67482463436145E-7
pancreatic ductal adenocarcinoma liver metastasis 1795 0.00656747205320183
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0257777087675402
Disease Target Count Z-score Confidence
Lesch-Nyhan syndrome 12 3.089 1.5
Hermansky-Pudlak syndrome 43 3.035 1.5


  Differential Expression (4)


Accession P30047 B2R4L6 B7ZLM8 Q2M1Q2 Q99749 GFRP
Symbols P35


  Ortholog (10)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum EggNOG Inparanoid
Platypus OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid
C. elegans OMA EggNOG Inparanoid

Gene RIF (14)

20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20351752 homozygous individuals for the TT haplotype were less likely to respond to the SSRI fluoxetine than to the nortriptyline suggesting a biological process through which GCHFR promoter variants might influence antidepressant response.
20351752 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19926872 Studies provide a new mechanism for regulation of endothelial GTPCH-1 by its phosphorylation and interplay with GFRP.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19674121 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19101819 6BH(4) de novo synthesis is controlled by H(2)O(2) in a concentration-dependent manner, but H(2)O(2)-mediated oxidation does not affect the functionality of the GTPCHI/GFRP complex.
18372436 Demonstrate role for GFRP in regulating iNOS-mediated NO synthesis and suggest that the allosteric regulation of GTP-CH1 activity by GFRP may be an important mechanism regulating BH(4) and NO levels in vivo.
17135716 The co-expression of GTP cyclohydrolase I (GCHI) with tyrosine hydroxylase (TH) indicates that TH is indeed active in human neurosecretory neurons.
17101830 GCH1 mutations in Japanese patients with DYT5 dystonia. In some of them, the GCH1 enzyme activity was proved to be impaired.

AA Sequence

TGVGQTLVWCLHKE                                                             71 - 84

Text Mined References (24)

PMID Year Title
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
21269460 2011 Initial characterization of the human central proteome.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20351752 2011 A polymorphism of the GTP-cyclohydrolase I feedback regulator gene alters transcriptional activity and may affect response to SSRI antidepressants.
19926872 2010 GTP cyclohydrolase I phosphorylation and interaction with GTP cyclohydrolase feedback regulatory protein provide novel regulation of endothelial tetrahydrobiopterin and nitric oxide.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19674121 2009 Examination of tetrahydrobiopterin pathway genes in autism.
19101819 2009 H(2)O(2) increases de novo synthesis of (6R)-L-erythro-5,6,7,8-tetrahydrobiopterin via GTP cyclohydrolase I and its feedback regulatory protein in vitiligo.
18372436 2008 Over-expression of GTP-cyclohydrolase 1 feedback regulatory protein attenuates LPS and cytokine-stimulated nitric oxide production.
17135716 2006 Co-expression of tyrosine hydroxylase and GTP cyclohydrolase I in arginine vasopressin-synthesizing neurons of the human supraoptic nucleus demonstrated by laser microdissection and real-time PCR.