GAMT angl Guanidinoacetate N methyltransferase bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 19 yi hromosomi 4 Dovzhina polipeptidnogo lancyuga bilka stanovit 236 aminokislot a molekulyarna masa 26 318 5 GAMTNayavni strukturiPDBPoshuk ortologiv PDBe RCSBSpisok kodiv PDB3ORHIdentifikatoriSimvoliGAMT CCDS2 HEL S 20 PIG2 TP53I2 guanidinoacetate N methyltransferaseZovnishni ID OMIM 601240 MGI 1098221 HomoloGene 32089 GeneCards GAMTPov yazani genetichni zahvoryuvannyaguanidinoacetate methyltransferase deficiency 1 Ontologiya genaMolekulyarna funkciya GO 0102674 GO 0102675 methyltransferase activity transferase activity guanidinoacetate N methyltransferase activity S adenosylmethionine dependent methyltransferase activityKlitinna komponenta citoplazma gialoplazma klitinne yadroBiologichnij proces m yazove skorochennya regulation of multicellular organism growth Metilyuvannya Spermatogenez animal organ morphogenesis creatine metabolic process creatine biosynthetic process S adenosylhomocysteine metabolic process S adenosylmethionine metabolic processDzherela Amigo QuickGOShablon ekspresiyiBilshe danihOrtologiVidi Lyudina MishaEntrez2593 14431Ensembl ENSG00000130005 ENSMUSG00000020150UniProt Q14353 O35969RefSeq mRNK NM 138924NM 000156NM 010255NM 001347119RefSeq bilok NP 000147NP 620279NP 001334048NP 034385Lokus UCSC Hr 19 1 4 1 4 MbHr 10 80 09 80 1 MbPubMed search 2 3 VikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQEAPIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLLKPGGVLTYCNLTSWGELMKSKYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPADCRYYAFPQMITPLVTKGA Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Kodovanij genom bilok za funkciyami nalezhit do transferaz metiltransferaz Zadiyanij u takih biologichnih procesah yak acetilyuvannya alternativnij splajsing Bilok maye sajt dlya zv yazuvannya z S adenozil L metioninom Literatura red Isbrandt D von Figura K 1995 Cloning and sequence analysis of human guanidinoacetate N methyltransferase cDNA Biochim Biophys Acta 1264 265 267 PubMed DOI 10 1016 0167 4781 95 00184 0 Jenne D E Olsen A S 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 238 723 727 PubMed DOI 10 1006 bbrc 1997 9992 The status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 2121 2127 2004 PubMed DOI 10 1101 gr 2596504 Stoeckler S Isbrandt D Hanefeld F Schmidt B von Figura K 1996 Guanidinoacetate methyltransferase deficiency the first inborn error of creatine metabolism in man Am J Hum Genet 58 914 922 PubMedPrimitki red Zahvoryuvannya genetichno pov yazani z GAMT pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 4136 angl Arhiv originalu za 13 lipnya 2017 Procitovano 12 veresnya 2017 UniProt Q14353 angl Arhiv originalu za 23 veresnya 2017 Procitovano 12 veresnya 2017 Div takozh red Hromosoma 19 nbsp Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi Otrimano z https uk wikipedia org w index php title Guanidinoacetat N metiltransferaza amp oldid 38132674
