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Pretraga
PMC	članci
PubMed	članci
NCBI	proteini

Guanidinoacetatna N-metiltransferaza
Guanidinoacetatna N-metiltransferaza
Identifikatori
EC broj	2.1.1.2
CAS broj	9029-75-8
Baze podataka
IntEnz	IntEnz pregled
BRENDA	BRENDA unos
ExPASy	NiceZyme pregled
KEGG	KEGG unos
MetaCyc	metabolički put
PRIAM	profil
PDB strukture	RCSB PDB PDBj PDBe PDBsum
Ontologija gena	AmiGO / QuickGO
PMC
Pretraga
PMC	članci
PubMed	članci
NCBI	proteini

GAMT
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	3ORH
Identifikatori
Aliasi	GAMT
Vanjski ID-jevi	OMIM: 601240 MGI: 1098221 HomoloGene: 32089 GeneCards: GAMT
Lokacija gena (čovjek)
Hrom.	Hromosom 19 (čovjek)
Kraj	1,401,570 bp
Lokacija gena (miš)
Hrom.	Hromosom 10 (miš)
Kraj	80,096,846 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0102674, GO:0102675 methyltransferase activity; • aktivnost sa transferazom; • guanidinoacetate N-methyltransferase activity; • S-adenosylmethionine-dependent methyltransferase activity;
Ćelijska komponenta	• citoplazma; • citosol; • jedro;
Biološki proces	• Mišićna kontrakcija; • regulation of multicellular organism growth; • Metilacija; • Spermatogeneza; • animal organ morphogenesis; • creatine metabolic process; • creatine biosynthetic process; • S-adenosylhomocysteine metabolic process; • S-adenosylmethionine metabolic process;
	Izvori:Amigo / QuickGO
Ortolozi
	2593
	14431
	ENSG00000130005
	ENSMUSG00000020150
	Q14353
	O35969
	NM_138924; NM_000156
	NM_010255; NM_001347119
	NP_000147; NP_620279
	NP_001334048; NP_034385
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Guanidinoacetatna N-metiltransferaza (EC 2.1.1.2) je enzim koji katalizira hemijsku reakciju, a kodiran je genom GAMT, koji se nalazi na hromosomu 19, pozicija 19p13.3.^[5]

S-adenozil-L-metionin + gvanidinoacetat

\rightleftharpoons

S-adenozil-L-homocistein + kreatin

Dakle, dva supstrata ovog enzima su S-adenozil metionin i guanidinoacetat, dok su njegova dva proizvoda S-adenozilhomocistein i kreatin. S-adenosyl-L-methionine + guanidinoacetate S-adenosyl-L-homocysteine + creatine

Ovaj enzim pripada porodici transferaza, posebno onima metiltransferaze koji prenose jedan ugljik. Sistematsko ime ove enzimske klase je S-adenozil-L-metionin: N-gvanidinoacetat metiltransferaze. Ostala uobičajena imena su GA metilferaza, guanidinoacetat metiltransferaza, guanidinoacetat-transmetilaza, metionin-guanidinocetna transmetilaza i guanidoacetat-metiltransferaza. Ovaj enzim učestvuje u metabolizmu glicina, serina i treonina, arginina i prolina.

Protein koji kodira ovaj gen je metiltransferaza, koja pretvara guanidoacetat u kreatin, koristeći S-adenozilmetionin kao donor metila. Defekti ovog gena upleteni su u neurološke sindrome i mišićnu hipotoniju, vjerovatno zbog nedostatka kreatina i akumulacije guanidinoacetata u mozgu pogođenih osoba. Za ovaj gen su opisane dvije varijante transkripta koje kodiraju različite izoforme.^[5]

Strukturne studije

Krajem 2007. godine za ovu klasu enzima utvrđeno je 7 struktura, sa pristupnim kodovima u PDB 1KHH, 1P1B 1P1B , 1P1C 1P1C, 1XCJ 1XCJ, 1XCL 1XCL, 1ZX0 1ZX0 i 2BLN.

Također pogledajte

Nedostatak guanidinoacetat-metiltransferaze

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000130005 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020150 - 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.
^ ^a ^b "Entrez Gene: GAMT guanidinoacetate N-methyltransferase".

Dopunska literatura

Almeida LS; Vilarinho L; Darmin PS; et al. (2007). "A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal". Mol. Genet. Metab. 91 (1): 1–6. doi:10.1016/j.ymgme.2007.01.005. PMID 17336114.
Morris AA; Appleton RE; Power B; et al. (2007). "Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy". J. Inherit. Metab. Dis. 30 (1): 100. doi:10.1007/s10545-006-0478-2. PMID 17171576.
Almeida LS; Rosenberg EH; Martinez-Muñoz C; et al. (2007). "Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts". Mol. Genet. Metab. 89 (4): 392–4. doi:10.1016/j.ymgme.2006.06.006. PMID 16899382.
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.
Grimwood J; Gordon LA; Olsen A; et al. (2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529–35. Bibcode:2004Natur.428..529G. doi:10.1038/nature02399. PMID 15057824.
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.
Komoto J; Huang Y; Hu Y; et al. (2000). "Crystallization and preliminary x-ray diffraction studies of guanidinoacetate methyltransferase from rat liver" (PDF). Acta Crystallogr. D. 55 (Pt 11): 1928–9. doi:10.1107/S0907444999010318. hdl:1808/17175. PMID 10531498.
Chae YJ; Chung CE; Kim BJ; et al. (1998). "The gene encoding guanidinoacetate methyltransferase (GAMT) maps to human chromosome 19 at band p13.3 and to mouse chromosome 10". Genomics. 49 (1): 162–4. doi:10.1006/geno.1998.5236. PMID 9570966.
Jenne DE, Olsen AS, Zimmer M (1997). "The human guanidinoacetate methyltransferase (GAMT) gene maps to a syntenic region on 19p13.3, homologous to band C of mouse chromosome 10, but GAMT is not mutated in jittery mice". Biochem. Biophys. Res. Commun. 238 (3): 723–7. doi:10.1006/bbrc.1997.9992. PMID 9325156.
Polyak K; Xia Y; Zweier JL; et al. (1997). "A model for p53-induced apoptosis". Nature. 389 (6648): 300–5. Bibcode:1997Natur.389..300P. doi:10.1038/38525. PMID 9305847.
Stöckler S; Isbrandt D; Hanefeld F; et al. (1996). "Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man". Am. J. Hum. Genet. 58 (5): 914–22. PMC 1914613. PMID 8651275.
Isbrandt D, von Figura K (1996). "Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA". Biochim. Biophys. Acta. 1264 (3): 265–7. doi:10.1016/0167-4781(95)00184-0. PMID 8547310.
Cantoni GL, Scarano E (1954). "The formation of S-adenosylhomocysteine in enzymatic transmethylation reactions". J. Am. Chem. Soc. 76 (18): 4744. doi:10.1021/ja01647a081.
CANTONI GL, VIGNOS PJ (1954). "Enzymatic mechanism of creatine synthesis". J. Biol. Chem. 209 (2): 647–59. PMID 13192118.

Vanjski linkovi

PDBe-KB provides an overview of all the structure information available in the PDB for Human Guanidinoacetate N-methyltransferase

Portal Biologija

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000130005 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000020150 - 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: GAMT guanidinoacetate N-methyltransferase".

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