ID GCST_HUMAN STANDARD; PRT; 403 AA. AC P48728; DT 01-FEB-1996 (Rel. 33, Created) DT 01-FEB-1996 (Rel. 33, Last sequence update) DT 10-OCT-2003 (Rel. 42, Last annotation update) DE Aminomethyltransferase, mitochondrial precursor (EC 2.1.2.10) (Glycine DE cleavage system T protein) (GCVT). GN AMT OR GCST. OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP SEQUENCE FROM N.A. RX MEDLINE=93249454; PubMed=7916605; RA Hayasaka K., Nanao K., Takada G., Okamura-Ikeda K., Motokawa Y.; RT "Isolation and sequence determination of cDNA encoding human T-protein RT of the glycine cleavage system."; RL Biochem. Biophys. Res. Commun. 192:766-771(1993). RN [2] RP SEQUENCE FROM N.A. RX MEDLINE=94245173; PubMed=8188235; RA Nanao K., Takada G., Takahashi E.I., Seki N., Komatsu Y., RA Okamura-Ikeda K., Motokawa Y., Hayasaka K.; RT "Structure and chromosomal localization of the aminomethyltransferase RT gene (AMT)."; RL Genomics 19:27-30(1994). RN [3] RP VARIANTS NKH ARG-47; ASP-269 AND HIS-320. RX MEDLINE=94274200; PubMed=8005589; RA Nanao K., Okamura-Ikeda K., Motokawa Y., Danks D.M., Baumgartner E.R., RA Takada G., Hayasaka K.; RT "Identification of the mutations in the T-protein gene causing typical RT and atypical nonketotic hyperglycinemia."; RL Hum. Genet. 93:655-658(1994). RN [4] RP VARIANT NKH ARG-42. RX MEDLINE=98260866; PubMed=9600239; RA Kure S., Mandel H., Rolland M.-O., Sakata Y., Shinka T., Drugan A., RA Boneh A., Tada K., Matsubara Y., Narisawa K.; RT "A missense mutation (His42Arg) in the T-protein gene from a large RT Israeli-Arab kindred with nonketotic hyperglycinemia."; RL Hum. Genet. 102:430-434(1998). RN [5] RP VARIANT NKH HIS-276. RX MEDLINE=98284540; PubMed=9621520; RA Kure S., Shinka T., Sakata Y., Osamu N., Takayanagi M., Tada K., RA Matsubara Y., Narisawa K.; RT "A one-base deletion (183delC) and a missense mutation (D276H) in the RT T-protein gene from a Japanese family with nonketotic RT hyperglycinemia."; RL J. Hum. Genet. 43:135-137(1998). RN [6] RP VARIANTS NKH LYS-211 AND HIS-320. RX MEDLINE=20334896; PubMed=10873393; RA Toone J.R., Applegarth D.A., Coulter-Mackie M.B., James E.R.; RT "Biochemical and molecular investigations of patients with nonketotic RT hyperglycinemia."; RL Mol. Genet. Metab. 70:116-121(2000). RN [7] RP VARIANTS NKH ILE-145 AND HIS-320. RX MEDLINE=21185203; PubMed=11286506; RA Toone J.R., Applegarth D.A., Coulter-Mackie M.B., James E.R.; RT "Recurrent mutations in P- and T-proteins of the glycine cleavage RT complex and a novel T-protein mutation (N145I): a strategy for the RT molecular investigation of patients with nonketotic hyperglycinemia RT (NKH)."; RL Mol. Genet. Metab. 72:322-325(2001). CC -!- FUNCTION: The glycine cleavage system catalyzes the degradation of CC glycine. CC -!- CATALYTIC ACTIVITY: (6S)-tetrahydrofolate + S- CC aminomethyldihydrolipoylprotein = (6R)-5,10- CC methylenetetrahydrofolate + NH(3) + dihydrolipoylprotein. CC -!- SUBUNIT: The glycine cleavage system is composed of four proteins: CC P, T, L and H. CC -!- SUBCELLULAR LOCATION: Mitochondrial. CC -!- DISEASE: Defects in AMT are a cause of nonketotic hyperglycinemia CC (NKH) [MIM:605899]; also known as glycine encephalopathy (GCE). CC NKH is an autosomal recessive disease characterized by CC accumulation of a large amount of glycine in body fluid and by CC severe neurological symptoms. CC -!- SIMILARITY: Belongs to the gcvT family. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; D13811; BAA02967.1; -. DR EMBL; D14686; BAA03512.1; -. DR EMBL; D14681; BAA03512.1; JOINED. DR EMBL; D14682; BAA03512.1; JOINED. DR EMBL; D14683; BAA03512.1; JOINED. DR EMBL; D14684; BAA03512.1; JOINED. DR EMBL; D14685; BAA03512.1; JOINED. DR PIR; I54192; I54192. DR Genew; HGNC:473; AMT. DR MIM; 238310; -. DR MIM; 605899; -. DR GO; GO:0005739; C:mitochondrion; TAS. DR GO; GO:0006546; P:glycine catabolism; TAS. DR InterPro; IPR006222; GCV_T. DR InterPro; IPR006223; GcvT. DR Pfam; PF01571; GCV_T; 1. DR TIGRFAMs; TIGR00528; gcvT; 1. KW Transferase; Aminotransferase; Mitochondrion; Transit peptide; KW Disease mutation. FT TRANSIT 1 28 Mitochondrion (By similarity). FT CHAIN 29 403 Aminomethyltransferase. FT VARIANT 42 42 H -> R (in NKH). FT /FTId=VAR_007951. FT VARIANT 47 47 G -> R (in NKH). FT /FTId=VAR_007952. FT VARIANT 145 145 N -> I (in NKH). FT /FTId=VAR_016847. FT VARIANT 211 211 E -> K (in NKH). FT /FTId=VAR_016848. FT VARIANT 269 269 G -> D (in NKH). FT /FTId=VAR_007953. FT VARIANT 276 276 D -> H (in NKH). FT /FTId=VAR_007954. FT VARIANT 320 320 R -> H (in NKH). FT /FTId=VAR_007955. FT CONFLICT 95 95 V -> C (in Ref. 2). SQ SEQUENCE 403 AA; 43946 MW; 218DC9EEADFA9102 CRC64; MQRAVSVVAR LGFRLQAFPP ALCRPLSCAQ EVLRRTPLYD FHLAHGGKMV AFAGWSLPVQ YRDSHTDSHL HTRQHCSLFD VSHMLQTKIL GSDRVKLMES LVVGDIAELR PNQGTLSLFT NEAGGILDDL IVTNTSEGHL YVVSNAGCWE KDLALMQDKV RELQNQGRDV GLEVLDNALL ALQGPTAAQV LQAGVADDLR KLPFMTSAVM EVFGVSGCRV TRCGYTGEDG VEISVPVAGA VHLATAILKN PEVKLAGLAA RDSLRLEAGL CLYGNDIDEH TTPVEGSLSW TLGKRRRAAM DFPGAKVIVP QLKGRVQRRR VGLMCEGAPM RAHSPILNME GTKIGTVTSG CPSPSLKKNV AMGYVPCEYS RPGTMLLVEV RRKQQMAVVS KMPFVPTNYY TLK //