GCHFR

GCHFR
Identifiers
Aliases	GCHFR , GFRP, HsT16933, P35, GTP cyclohydrolase I feedback regulator
External IDs	OMIM: 602437 MGI: 2443977 HomoloGene: 3849 GeneCards: GCHFR
Gene location (Human) Chr. Chromosome 15 (human) [1] Band 15q15.1 Start 40,764,068 bp [1] End 40,767,708 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2|2 E5 Start 118,998,254 bp [2] End 119,002,871 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver right lung jejunal mucosa duodenum kidney upper lobe of left lung cavity of mouth skin of abdomen subcutaneous adipose tissue minor salivary gland Top expressed in left lobe of liver proximal tubule olfactory epithelium jejunum interventricular septum blood kidney renal corpuscle ileum seminal vesicula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function GTP cyclohydrolase binding enzyme inhibitor activity amino acid binding protein binding enzyme binding GTP-dependent protein binding Cellular component cytoplasm cytosol nuclear membrane membrane melanosome dendrite nucleus nucleoplasm protein-containing complex Biological process nitric oxide biosynthetic process protein heterooligomerization negative regulation of GTP cyclohydrolase I activity neurotransmitter metabolic process negative regulation of biosynthetic process protein-containing complex assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2644 320415 Ensembl ENSG00000137880 ENSMUSG00000046814 UniProt P30047 P99025 RefSeq (mRNA) NM_005258 NM_177157 RefSeq (protein) NP_005249 NP_796131 Location (UCSC) Chr 15: 40.76 – 40.77 Mb Chr 2: 119 – 119 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

GTP cyclohydrolase 1 feedback regulatory protein is an enzyme that in humans is encoded by the GCHFR gene. ^{[5] [6] [7]}

GTP cyclohydrolase I feedback regulatory protein binds to and mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase I. The regulatory protein, GCHFR, consists of a homodimer. It is postulated that GCHFR may play a role in regulating phenylalanine metabolism in the liver and in the production of biogenic amine neurotransmitters and nitric oxide. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000137880 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000046814 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Milstien S, Jaffe H, Kowlessur D, Bonner TI (Oct 1996). "Purification and cloning of the GTP cyclohydrolase I feedback regulatory protein, GFRP". J. Biol. Chem. 271 (33): 19743–51. doi: 10.1074/jbc.271.33.19743 . PMID   8702680.
6. Hochstrasser DF, Frutiger S, Paquet N, Bairoch A, Ravier F, Pasquali C, Sanchez JC, Tissot JD, Bjellqvist B, Vargas R, et al. (Mar 1993). "Human liver protein map: a reference database established by microsequencing and gel comparison". Electrophoresis. 13 (12): 992–1001. doi:10.1002/elps.11501301201. PMID   1286669. S2CID   23518983.
7. "Entrez Gene: GCHFR GTP cyclohydrolase I feedback regulator".

Further reading

• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Yoneyama T, Brewer JM, Hatakeyama K (1997). "GTP cyclohydrolase I feedback regulatory protein is a pentamer of identical subunits. Purification, cDNA cloning, and bacterial expression". J. Biol. Chem. 272 (15): 9690–6. doi: 10.1074/jbc.272.15.9690 . PMID   9092499.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Bader G, Schiffmann S, Herrmann A, et al. (2001). "Crystal structure of rat GTP cyclohydrolase I feedback regulatory protein, GFRP". J. Mol. Biol. 312 (5): 1051–7. doi:10.1006/jmbi.2001.5011. PMID   11580249.
• Werner ER, Bahrami S, Heller R, Werner-Felmayer G (2002). "Bacterial lipopolysaccharide down-regulates expression of GTP cyclohydrolase I feedback regulatory protein". J. Biol. Chem. 277 (12): 10129–33. doi: 10.1074/jbc.M107326200 . PMID   11799107.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Gesierich A, Niroomand F, Tiefenbacher CP (2003). "Role of human GTP cyclohydrolase I and its regulatory protein in tetrahydrobiopterin metabolism". Basic Res. Cardiol. 98 (2): 69–75. doi:10.1007/s00395-003-0394-y. PMID   12607127. S2CID   19864675.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Kalivendi S, Hatakeyama K, Whitsett J, et al. (2006). "Changes in tetrahydrobiopterin levels in endothelial cells and adult cardiomyocytes induced by LPS and hydrogen peroxide--a role for GFRP?". Free Radic. Biol. Med. 38 (4): 481–91. doi:10.1016/j.freeradbiomed.2004.11.004. PMID   15649650.
• Chavan B, Gillbro JM, Rokos H, Schallreuter KU (2007). "GTP cyclohydrolase feedback regulatory protein controls cofactor 6-tetrahydrobiopterin synthesis in the cytosol and in the nucleus of epidermal keratinocytes and melanocytes". J. Invest. Dermatol. 126 (11): 2481–9. doi: 10.1038/sj.jid.5700425 . PMID   16778797.
• Ohta E, Funayama M, Ichinose H, et al. (2006). "Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia". Arch. Neurol. 63 (11): 1605–10. doi:10.1001/archneur.63.11.1605. PMID   17101830.
• Kontostavlaki DP, Panayotacopoulou MT, Sluijs JA, et al. (2007). "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". Neuroendocrinology. 84 (6): 386–95. doi:10.1159/000097487. PMID   17135716. S2CID   40550512.
• Nandi M, Kelly P, Vallance P, Leiper J (2008). "Over-expression of GTP-cyclohydrolase 1 feedback regulatory protein attenuates LPS and cytokine-stimulated nitric oxide production". Vasc. Med. 13 (1): 29–36. doi:10.1177/1358863X07085916. PMID   18372436.
• Ionova IA, Vasques-Vivar J, Whitsett J, et al. (2008). "Deficient BH4 production via de novo and salvage pathways regulates NO responses to cytokines in adult cardiac myocytes". Am. J. Physiol. 295 (5): H2178–87. doi:10.1152/ajpheart.00748.2008. PMC   2614582 . PMID   18835915.