Izvorni kôd stranice GAMT

{{Infokutija gen}}
{{infokutija enzim
| Ime = Guanidinoacetatna N-metiltransferaza
| EC_number = 2.1.1.2
| CAS_number = 9029-75-8
| IUBMB_EC_number = 2/1/1/2
| GO_code = 0030731
| image = 
| width = 
| caption = 
}}
'''Guanidinoacetatna N-metiltransferaza''' ([[EC broj|EC 2.1.1.2]]) je [[enzim]] koji [[kataliza|katalizira]] [[hemijska reakcija|hemijsku reakciju]], a kodiran je [[gen]]om '''GAMT''', koji se nalazi na hromosomu 19, pozicija 19p13.3.<ref name="entrez">{{cite web | title = Entrez Gene: GAMT guanidinoacetate N-methyltransferase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2593}}</ref>

: S-adenozil-L-metionin + gvanidinoacetat <math>\rightleftharpoons</math> S-adenozil-L-homocistein + [[kreatin]]

Dakle, dva [[supstrat (biohemija)|supstrata]] ovog enzima su [[S-adenozil metionin]] i [[guanidinoacetat]], dok su njegova dva [[proizvod (hemija)|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. [[Lista enzima|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 [[metabolizam|metabolizmu]] [[glicin]]a, [[serin]]a i [[treonin]]a, [[arginin]]a i [[prolin]]a.

Protein koji kodira ovaj gen je metiltransferaza, koja pretvara [[guanidoacetat]] u [[kreatin]], koristeći S-adenozilmetionin kao donor [[metil]]a. 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.<ref name = "entrez"/>

== Strukturne studije ==

Krajem 2007. godine za ovu klasu enzima utvrđeno je 7 [[tercijarna struktura proteina|struktura]], sa pristupnim kodovima u [[Proteinska banka podataka|PDB]] [[PDB|1KHH]], {{PDB link | 1P1B }}, {{PDB link| 1P1C}}, {{PDB link | 1XCJ}}, {{PDB link| 1XCL}}, {{PDB link | 1ZX0}} i {{PDB link|2BLN}}.

== Također pogledajte ==
* [[Nedostatak guanidinoacetat-metiltransferaze]]

==Reference==
{{reflist}}

==Dopunska literatura==
{{refbegin | 2}}
*{{cite journal  | author=Almeida LS |title=A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal |journal=Mol. Genet. Metab. |volume=91 |issue= 1 |pages= 1–6 |year= 2007 |pmid= 17336114 |doi= 10.1016/j.ymgme.2007.01.005 | author2=Vilarinho L  | author3=Darmin PS  | display-authors=3  | last4=Rosenberg  | first4=E.H.  | last5=Martinez-Muñoz  | first5=C.  | last6=Jakobs  | first6=C.  | last7=Salomons  | first7=G.S. }}
*{{cite journal  | author=Morris AA |title=Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy |journal=J. Inherit. Metab. Dis. |volume=30 |issue= 1 |pages= 100 |year= 2007 |pmid= 17171576 |doi= 10.1007/s10545-006-0478-2 | author2=Appleton RE  | author3=Power B  | display-authors=3  | last4=Isherwood  | first4=D. M.  | last5=Abernethy  | first5=L. J.  | last6=Taylor  | first6=R. W.  | last7=Turnbull  | first7=D. M.  | last8=Verhoeven  | first8=N. M.  | last9=Salomons  | first9=G. S. }}
*{{cite journal  | author=Almeida LS |title=Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts |journal=Mol. Genet. Metab. |volume=89 |issue= 4 |pages= 392–4 |year= 2007 |pmid= 16899382 |doi= 10.1016/j.ymgme.2006.06.006 | author2=Rosenberg EH  | author3=Martinez-Muñoz C  | display-authors=3  | last4=Verhoeven  | first4=N.M.  | last5=Vilarinho  | first5=L.  | last6=Jakobs  | first6=C.  | last7=Salomons  | first7=G.S. }}
*{{cite journal  | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928 | author2=Wagner L  | author3=Feingold EA  | display-authors=3  | last4=Shenmen  | first4=CM  | last5=Grouse  | first5=LH  | last6=Schuler  | first6=G  | last7=Klein  | first7=SL  | last8=Old  | first8=S  | last9=Rasooly  | first9=R }}
*{{cite journal  | author=Grimwood J |title=The DNA sequence and biology of human chromosome 19 |journal=Nature |volume=428 |issue= 6982 |pages= 529–35 |year= 2004 |pmid= 15057824 |doi= 10.1038/nature02399  | author2=Gordon LA  | author3=Olsen A  | display-authors=3  | last4=Terry  | first4=Astrid  | last5=Schmutz  | first5=Jeremy  | last6=Lamerdin  | first6=Jane  | last7=Hellsten  | first7=Uffe  | last8=Goodstein  | first8=David  | last9=Couronne  | first9=Olivier |bibcode=2004Natur.428..529G | doi-access=free  }}
*{{cite journal  | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 | author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
*{{cite journal  | author=Komoto J |title=Crystallization and preliminary x-ray diffraction studies of guanidinoacetate methyltransferase from rat liver |journal=Acta Crystallogr. D |volume=55 |issue= Pt 11 |pages= 1928–9 |year= 2000 |pmid= 10531498 |doi=10.1107/S0907444999010318 | author2=Huang Y  | author3=Hu Y  | display-authors=3  | last4=Takata  | first4=Yoshimi  | last5=Konishi  | first5=Kiyoshi  | last6=Ogawa  | first6=Hirofumi  | last7=Gomi  | first7=Tomoharu  | last8=Fujioka  | first8=Motoji  | last9=Takusagawa  | first9=Fusao  |url=https://kuscholarworks.ku.edu/bitstream/1808/17175/1/TakusagawaF_AC_55%2811%291928.pdf|hdl=1808/17175 }}
*{{cite journal  | author=Chae YJ |title=The gene encoding guanidinoacetate methyltransferase (GAMT) maps to human chromosome 19 at band p13.3 and to mouse chromosome 10 |journal=Genomics |volume=49 |issue= 1 |pages= 162–4 |year= 1998 |pmid= 9570966 |doi= 10.1006/geno.1998.5236  | author2=Chung CE  | author3=Kim BJ  | display-authors=3  | last4=Lee  | first4=MH  | last5=Lee  | first5=H }}
*{{cite journal  |vauthors=Jenne DE, Olsen AS, Zimmer M |title=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 |journal=Biochem. Biophys. Res. Commun. |volume=238 |issue= 3 |pages= 723–7 |year= 1997 |pmid= 9325156 |doi= 10.1006/bbrc.1997.9992 |url=https://zenodo.org/record/1229500 }}
*{{cite journal  | author=Polyak K |title=A model for p53-induced apoptosis |journal=Nature |volume=389 |issue= 6648 |pages= 300–5 |year= 1997 |pmid= 9305847 |doi= 10.1038/38525| author2=Xia Y  | author3=Zweier JL  | display-authors=3  | last4=Kinzler  | first4=Kenneth W.  | last5=Vogelstein  | first5=Bert |bibcode=1997Natur.389..300P}}
*{{cite journal  | author=Stöckler S |title=Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man |journal=Am. J. Hum. Genet. |volume=58 |issue= 5 |pages= 914–22 |year= 1996 |pmid= 8651275 | pmc=1914613 | author2=Isbrandt D  | author3=Hanefeld F  | display-authors=3  | last4=Schmidt  | first4=B  | last5=Von Figura  | first5=K  }}
*{{cite journal  |vauthors=Isbrandt D, von Figura K |title=Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA |journal=Biochim. Biophys. Acta |volume=1264 |issue= 3 |pages= 265–7 |year= 1996 |pmid= 8547310 |doi=  10.1016/0167-4781(95)00184-0}}
* {{cite journal |vauthors=Cantoni GL, Scarano E| year = 1954 | title = The formation of S-adenosylhomocysteine in enzymatic transmethylation reactions | journal = J. Am. Chem. Soc.  | volume = 76 | pages = 4744 | doi = 10.1021/ja01647a081 | issue = 18 }}
* {{cite journal |vauthors=CANTONI GL, VIGNOS PJ | year = 1954 | title = Enzymatic mechanism of creatine synthesis |url=https://archive.org/details/sim_journal-of-biological-chemistry_1954-08_209_2/page/647 | journal = J. Biol. Chem.  | volume = 209 | pages = 647&ndash;59  | pmid = 13192118 | issue = 2 }}
{{refend}}

== Vanjski linkovi ==
* [https://www.ebi.ac.uk/pdbe/pdbe-kb/proteins/Q14353 PDBe-KB] provides an overview of all the structure information available in the PDB for Human Guanidinoacetate N-methyltransferase

{{Enzimi}}
{{Portal|Biologija|border=no}}

[[Kategorija:EC 2.1.1]]
[[Kategorija:Enzimi poznate strukture]]
[[Kategorija:Geni na hromosomu 19]]