GCHFR (GTP cyclohydrolase I feedback regulator)

2014-11-01  

Identity

HGNC
GCHFR
LOCATION
15q15.1
LOCUSID
2644
ALIAS
GFRP,HsT16933,P35
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2644
MIM: 602437
HGNC: 4194
Ensembl: ENSG00000137880

Variants:

dbSNP: 2644
ClinVar: 2644
TCGA: ENSG00000137880
COSMIC: GCHFR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137880ENST00000260447P30047
ENSG00000137880ENST00000558467H0YNX7
ENSG00000137880ENST00000558670A0A087WTI4
ENSG00000137880ENST00000559445P30047
ENSG00000137880ENST00000559932H0YNX7
ENSG00000137880ENST00000561160H0YNM1

Expression (GTEx)

0
5
10
15
20
25
30
35
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
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
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
333876542021Biophysical and structural investigation of the regulation of human GTP cyclohydrolase I by its regulatory protein GFRP.1
333876542021Biophysical and structural investigation of the regulation of human GTP cyclohydrolase I by its regulatory protein GFRP.1
332295822020A hybrid approach reveals the allosteric regulation of GTP cyclohydrolase I.3
332295822020A hybrid approach reveals the allosteric regulation of GTP cyclohydrolase I.3
203517522011A polymorphism of the GTP-cyclohydrolase I feedback regulator gene alters transcriptional activity and may affect response to SSRI antidepressants.2
203517522011A polymorphism of the GTP-cyclohydrolase I feedback regulator gene alters transcriptional activity and may affect response to SSRI antidepressants.2
203517522011A polymorphism of the GTP-cyclohydrolase I feedback regulator gene alters transcriptional activity and may affect response to SSRI antidepressants.2
203517522011A polymorphism of the GTP-cyclohydrolase I feedback regulator gene alters transcriptional activity and may affect response to SSRI antidepressants.2
199268722010GTP cyclohydrolase I phosphorylation and interaction with GTP cyclohydrolase feedback regulatory protein provide novel regulation of endothelial tetrahydrobiopterin and nitric oxide.31
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
199268722010GTP cyclohydrolase I phosphorylation and interaction with GTP cyclohydrolase feedback regulatory protein provide novel regulation of endothelial tetrahydrobiopterin and nitric oxide.31
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
191018192009H(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.4
196741212009Examination of tetrahydrobiopterin pathway genes in autism.7
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105

Citation

Dessen P

GCHFR (GTP cyclohydrolase I feedback regulator)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63734/favicon/js/web-card-_common.js