GCHFR

Protein-coding gene in the species Homo sapiens
GCHFR
Identifiers
AliasesGCHFR, GFRP, HsT16933, P35, GTP cyclohydrolase I feedback regulator
External IDsOMIM: 602437; MGI: 2443977; HomoloGene: 3849; GeneCards: GCHFR; OMA:GCHFR - orthologs
Gene location (Human)
Chromosome 15 (human)
Chr.Chromosome 15 (human)[1]
Chromosome 15 (human)
Genomic location for GCHFR
Genomic location for GCHFR
Band15q15.1Start40,764,068 bp[1]
End40,767,708 bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for GCHFR
Genomic location for GCHFR
Band2|2 E5Start118,998,254 bp[2]
End119,002,871 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right lobe of liver

  • olfactory zone of nasal mucosa

  • mucosa of transverse colon

  • right lung

  • jejunal mucosa

  • mucosa of ileum

  • duodenum

  • human kidney

  • upper lobe of left lung

  • oral cavity
Top expressed in
  • right kidney

  • left lobe of liver

  • proximal tubule

  • olfactory epithelium

  • jejunum

  • interventricular septum

  • embryo

  • blood

  • lobe of prostate

  • human kidney
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
SpeciesHumanMouse
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 MbChr 2: 119 – 119 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000137880 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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. S2CID 8626710.
  • 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.
  • v
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  • 1is7: Crystal structure of rat GTPCHI/GFRP stimulatory complex
    1is7: Crystal structure of rat GTPCHI/GFRP stimulatory complex
  • 1is8: Crystal structure of rat GTPCHI/GFRP stimulatory complex plus Zn
    1is8: Crystal structure of rat GTPCHI/GFRP stimulatory complex plus Zn
  • 1jg5: CRYSTAL STRUCTURE OF RAT GTP CYCLOHYDROLASE I FEEDBACK REGULATORY PROTEIN, GFRP
    1jg5: CRYSTAL STRUCTURE OF RAT GTP CYCLOHYDROLASE I FEEDBACK REGULATORY PROTEIN, GFRP
  • 1wpl: Crystal structure of the inhibitory form of rat GTP cyclohydrolase I/GFRP complex
    1wpl: Crystal structure of the inhibitory form of rat GTP cyclohydrolase I/GFRP complex


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