GCHFR

GCHFR
Identifikatori
Aliasi	GCHFR
Vanjski ID-jevi	OMIM: 602437 MGI: 2443977 HomoloGene: 3849 GeneCards: GCHFR
Lokacija gena (čovjek)
Hrom.	Hromosom 15 (čovjek)
Kraj	40,767,708 bp
Lokacija gena (miš)
Hrom.	Hromosom 2 (miš)
Kraj	119,002,871 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GTP cyclohydrolase binding; • GO:0048551 enzyme inhibitor activity; • amino acid binding; • GO:0001948, GO:0016582 vezivanje za proteine; • vezivanje enzima; • GTP-dependent protein binding;
Ćelijska komponenta	• citoplazma; • citosol; • Jedarna membrana; • membrana; • Melanosom; • dendrit; • jedro; • nukleoplazma; • GO:0009327 makromolekulani kompleks;
Biološki proces	• nitric oxide biosynthetic process; • protein heterooligomerization; • negative regulation of GTP cyclohydrolase I activity; • neurotransmitter metabolic process; • negative regulation of biosynthetic process; • GO:0034622 protein-containing complex assembly;
	Izvori:Amigo / QuickGO
Ortolozi
	2644
	320415
	ENSG00000137880
	ENSMUSG00000046814
	P30047
	P99025
	NM_005258
	NM_177157
	NP_005249
	NP_796131
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Regulacijski protein povratne sprege GTP ciklohidrolaze 1 je enzim koji je kod ljudi kodiran genom GCHFR.^[5]^[6]^[7]

Regulatorni povratni signalni protein za GTP ciklohidrolaze I veže se i posreduje inhibiciju tetrahidrobiopterin-GTP ciklohidrolaze I. Regulatorni protein, GCHFR, sastoji se od homodimera. Pretpostavlja se da GCHFR može imati ulogu u regulaciji metabolizma fenilalanina u jetri i u proizvodnji biogenih aminskih neurotransmitera i dušik-oksida.^[7]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 84 aminokiseline, a molekulska težina 9.698 Da.^[8].

10		20		30		40		50
MPYLLISTQI		RMEVGPTMVG		DEQSDPELMQ		HLGASKRRAL		GNNFYEYYVD
DPPRIVLDKL		ERRGFRVLSM		TGVGQTLVWC		LHKE

Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000137880 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000046814 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ ^a ^b "Entrez Gene: GCHFR GTP cyclohydrolase I feedback regulator".
^ "UniProt, P30047". Pristupljeno 14. 7. 2021.

Dopunska literatura

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. 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.
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.
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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000137880 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000046814 - Ensembl, maj 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.

[pmid8702680-5] 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.

[pmid1286669-6] 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.

[entrez-7] "Entrez Gene: GCHFR GTP cyclohydrolase I feedback regulator".

[UniProt-8] "UniProt, P30047". Pristupljeno 14. 7. 2021.

[5]

[6]

[7]

[1]

[2]

[3]

[4]

[8]