GCHFR (GTP cyclohydrolase I feedback regulator)

2014-11-01 Affiliation

Identity

HGNC

GCHFR

LOCATION

15q15.1

LOCUSID

2644

ALIAS

GFRP,HsT16933,P35

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000137880	ENST00000260447	P30047
ENSG00000137880	ENST00000558467	H0YNX7
ENSG00000137880	ENST00000558670	A0A087WTI4
ENSG00000137880	ENST00000559445	P30047
ENSG00000137880	ENST00000559932	H0YNX7
ENSG00000137880	ENST00000561160	H0YNM1

Expression (GTEx)

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

Pathway	Source	External ID
Metabolism	REACTOME	R-HSA-1430728
Metabolism of nitric oxide	REACTOME	R-HSA-202131
eNOS activation and regulation	REACTOME	R-HSA-203765
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation	REACTOME	R-HSA-1474151

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
15649650	2005	Changes in tetrahydrobiopterin levels in endothelial cells and adult cardiomyocytes induced by LPS and hydrogen peroxide--a role for GFRP?	20
19926872	2010	GTP cyclohydrolase I phosphorylation and interaction with GTP cyclohydrolase feedback regulatory protein provide novel regulation of endothelial tetrahydrobiopterin and nitric oxide.	20
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.	11
11799107	2002	Bacterial lipopolysaccharide down-regulates expression of GTP cyclohydrolase I feedback regulatory protein.	10
18372436	2008	Over-expression of GTP-cyclohydrolase 1 feedback regulatory protein attenuates LPS and cytokine-stimulated nitric oxide production.	8
16778797	2006	GTP cyclohydrolase feedback regulatory protein controls cofactor 6-tetrahydrobiopterin synthesis in the cytosol and in the nucleus of epidermal keratinocytes and melanocytes.	7
19674121	2009	Examination of tetrahydrobiopterin pathway genes in autism.	6
11580249	2001	Crystal structure of rat GTP cyclohydrolase I feedback regulatory protein, GFRP.	3
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.	3

Citation

Dessen P

GCHFR (GTP cyclohydrolase I feedback regulator)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63734/gchfr