AGXT2

AGXT2
Identifikatori
Aliasi	AGXT2
Vanjski ID-jevi	OMIM: 612471 MGI: 2146052 HomoloGene: 12887 GeneCards: AGXT2
EC broj	2.6.1.40
Lokacija gena (čovjek)
Hrom.	Hromosom 5 (čovjek)
Kraj	35,048,135 bp
Lokacija gena (miš)
Hrom.	Hromosom 15 (miš)
Kraj	10,410,239 bp
Ontologija gena
Molekularna funkcija	• aktivnost sa transferazom; • (R)-3-amino-2-methylpropionate-pyruvate transaminase activity; • pyridoxal phosphate binding; • catalytic activity; • alanine-glyoxylate transaminase activity; • vezivanje identičnih proteina; • transaminase activity;
Ćelijska komponenta	• mitochondrial matrix; • mitohondrija;
Biološki proces	• glycine biosynthetic process, by transamination of glyoxylate; • positive regulation of nitric oxide biosynthetic process; • glyoxylate catabolic process; • L-alanine catabolic process, by transamination; • glyoxylate metabolic process;
	Izvori:Amigo / QuickGO
Ortolozi
	64902
	268782
	ENSG00000113492
	ENSMUSG00000089678
	Q9BYV1
	Q3UEG6
	NM_001306173; NM_031900
	NM_001031851; NM_001310735; NM_001310736
	NP_001293102; NP_114106
	NP_001027021; NP_001297664; NP_001297665
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

AGXT2 je ljudski gen kojim je kodiran enzim alanin-glioksilat aminotransferaza 2. ^[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 514 aminokiselina, а molekulska težina 57.156 Da.^[6]

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

10	20	30	40	50
MTLIWRHLLR	PLCLVTSAPR	ILEMHPFLSL	GTSRTSVTKL	SLHTKPRMPP
CDFMPERYQS	LGYNRVLEIH	KEHLSPVVTA	YFQKPLLLHQ	GHMEWLFDAE
GSRYLDFFSG	IVTVSVGHCH	PKVNAVAQKQ	LGRLWHTSTV	FFHPPMHEYA
EKLAALLPEP	LKVIFLVNSG	SEANELAMLM	ARAHSNNIDI	ISFRGAYHGC
SPYTLGLTNV	GTYKMELPGG	TGCQPTMCPD	VFRGPWGGSH	CRDSPVQTIR
KCSCAPDCCQ	AKDQYIEQFK	DTLSTSVAKS	IAGFFAEPIQ	GVNGVVQYPK
GFLKEAFELV	RARGGVCIAD	EVQTGFGRLG	SHFWGFQTHD	VLPDIVTMAK
GIGNGFPMAA	VITTPEIAKS	LAKCLQHFNT	FGGNPMACAI	GSAVLEVIKE
ENLQENSQEV	GTYMLLKFAK	LRDEFEIVGD	VRGKGLMIGI	EMVQDKISCR
PLPREEVNQI	HEDCKHMGLL	VGRGSIFSQT	FRIAPSMCIT	KPEVDFAVEV
FRSALTQHME	RRAK

Funkcija

Protein kodiran ovim genom je u klasi III proteina, ovisnih od piridoksal-fosfata klase III mitohondrijske aminotransferaze. Katalizira pretvaranje glioksilata u glicin, koristeći L-alanin kao donora amino grupe.^[7]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000113492 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000089678 - 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.
^ "Entrez Gene: Alanine--glyoxylate aminotransferase 2". Pristupljeno 12. 1. 2014.
^ "UniProt, Q9BYV1" (jezik: аeng.). Pristupljeno 12. 10. 2021.CS1 održavanje: nepoznati jezik (link)
^ [provided by RefSeq, Dec 2008]. ##Evidence-Data-START## Transcript exon combination :: AJ292204.1, AB193309.1 [ECO:0000332] RNAseq introns:: mixed/partial sample support ERS025084, ERS025088 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END##

Dopunska literatura

Lee, I. S.; Muragaki, Y.; Ideguchi, T.; Hase, T.; Tsuji, M.; Ooshima, A.; Okuno, E.; Kido, R. (1995). "Molecular cloning and sequencing of a cDNA encoding alanine-glyoxylate aminotransferase 2 from rat kidney". Journal of Biochemistry. 117 (4): 856–862. doi:10.1093/oxfordjournals.jbchem.a124787. PMID 7592550.
Nicholson, G.; Rantalainen, M.; Li, J. V.; Maher, A. D.; Malmodin, D.; Ahmadi, K. R.; Faber, J. H.; Barrett, A.; Min, J. L.; Rayner, N. W.; Toft, H.; Krestyaninova, M.; Viksna, J.; Neogi, S. G.; Dumas, M. E.; Sarkans, U.; Molpage, P.; Donnelly, T.; Illig, J.; Adamski, K.; Suhre, M.; Allen, K. T.; Zondervan, T. D.; Spector, J. K.; Nicholson, J. C.; Lindon, D.; Baunsgaard, E.; Holmes, M. I.; McCarthy, C. C.; Holmes, C. C. (2011). Barsh, Gregory S (ured.). "A Genome-Wide Metabolic QTL Analysis in Europeans Implicates Two Loci Shaped by Recent Positive Selection". PLOS Genetics. 7 (9): e1002270. doi:10.1371/journal.pgen.1002270. PMC 3169529. PMID 21931564.
Suhre, K.; Wallaschofski, H.; Raffler, J.; Friedrich, N.; Haring, R.; Michael, K.; Wasner, C.; Krebs, A.; Kronenberg, F.; Chang, D.; Meisinger, C.; Wichmann, H. E.; Hoffmann, W.; Völzke, H.; Völker, U.; Teumer, A.; Biffar, R.; Kocher, T.; Felix, S. B.; Illig, T.; Kroemer, H. K.; Gieger, C.; Römisch-Margl, W.; Nauck, M. (2011). "A genome-wide association study of metabolic traits in human urine". Nature Genetics. 43 (6): 565–569. doi:10.1038/ng.837. PMID 21572414. S2CID 28694666.
Rodionov, R. N.; Murry, D. J.; Vaulman, S. F.; Stevens, J. W.; Lentz, S. R. (2009). "Human Alanine-Glyoxylate Aminotransferase 2 Lowers Asymmetric Dimethylarginine and Protects from Inhibition of Nitric Oxide Production". Journal of Biological Chemistry. 285 (8): 5385–5391. doi:10.1074/jbc.M109.091280. PMC 2820767. PMID 20018850.
Baker, P. R. S.; Cramer, S. D.; Kennedy, M.; Assimos, D. G.; Holmes, R. P. (2004). "Glycolate and glyoxylate metabolism in HepG2 cells". AJP: Cell Physiology. 287 (5): C1359–C1365. doi:10.1152/ajpcell.00238.2004. PMID 15240345.
Danpure, C. J. (2005). "Primary hyperoxaluria: From gene defects to designer drugs?". Nephrology Dialysis Transplantation. 20 (8): 1525–1529. doi:10.1093/ndt/gfh923. PMID 15956068.
Caplin, B.; Wang, Z.; Slaviero, A.; Tomlinson, J.; Dowsett, L.; Delahaye, M.; Salama, A.; Wheeler, D. C.; Leiper, J.; Leiper, J. (2012). "Alanine-Glyoxylate Aminotransferase-2 Metabolizes Endogenous Methylarginines, Regulates NO, and Controls Blood Pressure". Arteriosclerosis, Thrombosis, and Vascular Biology. 32 (12): 2892–2900. doi:10.1161/ATVBAHA.112.254078. PMID 23023372.

Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000113492 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000089678 - 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.

[entrez-5] "Entrez Gene: Alanine--glyoxylate aminotransferase 2". Pristupljeno 12. 1. 2014.

[UniProt-6] "UniProt, Q9BYV1" (jezik: аeng.). Pristupljeno 12. 10. 2021.CS1 održavanje: nepoznati jezik (link)

[7] [provided by RefSeq, Dec 2008]. ##Evidence-Data-START## Transcript exon combination :: AJ292204.1, AB193309.1 [ECO:0000332] RNAseq introns:: mixed/partial sample support ERS025084, ERS025088 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END##

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