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Sequence of GCST_HUMAN

EC Number:2.1.2.10

EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
aminomethyltransferase
P48728
Homo sapiens
403
43946
Reaction
[protein]-S8-aminomethyldihydrolipoyllysine + tetrahydrofolate = [protein]-dihydrolipoyllysine + 5,10-methylenetetrahydrofolate + NH3
Other sequences found for EC No. 2.1.2.10

General information:

Sequence
show sequence in fasta format
  0 MQRAVSVVAR LGFRLQAFPP ALCRPLSCAQ EVLRRTPLYD FHLAHGGKMV AFAGWSLPVQ
 60 YRDSHTDSHL HTRQHCSLFD VSHMLQTKIL GSDRVKLMES LVVGDIAELR PNQGTLSLFT
120 NEAGGILDDL IVTNTSEGHL YVVSNAGCWE KDLALMQDKV RELQNQGRDV GLEVLDNALL
180 ALQGPTAAQV LQAGVADDLR KLPFMTSAVM EVFGVSGCRV TRCGYTGEDG VEISVPVAGA
240 VHLATAILKN PEVKLAGLAA RDSLRLEAGL CLYGNDIDEH TTPVEGSLSW TLGKRRRAAM
300 DFPGAKVIVP QLKGRVQRRR VGLMCEGAPM RAHSPILNME GTKIGTVTSG CPSPSLKKNV
360 AMGYVPCEYS RPGTMLLVEV RRKQQMAVVS KMPFVPTNYY TLK
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Sequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
802432
Hayasaka K.,Nanao K.,Takada G.,Okamura-Ikeda K.,Motokawa Y.
Isolation and sequence determination of cDNA encoding human T-protein of the glycine cleavage system.
Biochem. Biophys. Res. Commun.
192
766-771
1993
802433
Nanao K.,Takada G.,Takahashi E.,Seki N.,Komatsu Y.,Okamura-Ikeda K.,Motokawa Y.,Hayasaka K.
Structure and chromosomal localization of the aminomethyltransferase gene (AMT).
Genomics
19
27-30
1994
802434
Ota T.,Suzuki Y.,Nishikawa T.,Otsuki T.,Sugiyama T.,Irie R.,Wakamatsu A.,Hayashi K.,Sato H.,Nagai K.,Kimura K.,Makita H.,Sekine M.,Obayashi M.,Nishi T.,Shibahara T.,Tanaka T.,Ishii S.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Nat. Genet.
36
40-45
2004
802435
Muzny D.M.,Scherer S.E.,Kaul R.,Wang J.,Yu J.,Sudbrak R.,Buhay C.J.,Chen R.,Cree A.,Ding Y.,Dugan-Rocha S.,Gill R.,Gunaratne P.,Harris R.A.,Hawes A.C.,Hernandez J.,Hodgson A.V.,Hume J.,Jackson A.,Khan Z.M.,Kovar-Smith C.,Lewis L.R.,Lozado R.J.,Metzker M.L.,Milosavljevic A.,Miner G.R.,Morgan M.B.,Nazareth L.V.,Scott G.,Sodergren E.,Song X.-Z.,Steffen D.,Wei S.,Wheeler D.A.,Wright M.W.,Worley K.C.,Yuan Y.,Zhang Z.,Adams C.Q.,Ansari-Lari M.A.,Ayele M.,Brown M.J.,Chen G.,Chen Z.,Clendenning J.,Clerc-Blankenburg K.P.,Chen R.,Chen Z.,Davis C.,Delgado O.,Dinh H.H.,Dong W.,Draper H.,Ernst S.,Fu G.,Gonzalez-Garay M.L.,Garcia D.K.,Gillett W.,Gu J.,Hao B.,Haugen E.,Havlak P.,He X.,Hennig S.,Hu S.,Huang W.,Jackson L.R.,Jacob L.S.,Kelly S.H.,Kube M.,Levy R.,Li Z.,Liu B.,Liu J.,Liu W.,Lu J.,Maheshwari M.,Nguyen B.-V.,Okwuonu G.O.,Palmeiri A.,Pasternak S.,Perez L.M.,Phelps K.A.,Plopper F.J.,Qiang B.,Raymond C.,Rodriguez R.,Saenphimmachak C.,Santibanez J.,Shen H.,Shen Y.,Subramanian S.,Tabor P.E.,Verduzco D.,Waldron L.,Wang J.,Wang J.,Wang Q.,Williams G.A.,Wong G.K.-S.,Yao Z.,Zhang J.,Zhang X.,Zhao G.,Zhou J.,Zhou Y.,Nelson D.,Lehrach H.,Reinhardt R.,Naylor S.L.,Yang H.,Olson M.,Weinstock G.,Gibbs R.A.
The DNA sequence, annotation and analysis of human chromosome 3.
Nature
440
1194-1198
2006
802437
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
802438
Bravo-Alonso I.,Navarrete R.,Arribas-Carreira L.,Perona A.,Abia D.,Couce M.L.,Garcia-Cazorla A.,Morais A.,Domingo R.,Ramos M.A.,Swanson M.A.,Van Hove J.L.,Ugarte M.,Perez B.,Perez-Cerda C.,Rodriguez-Pombo P.
Nonketotic Hyperglycinemia: functional assessment of missense variants in GLDC to understand phenotypes of the disease.
Hum. Mutat.
38
678-691
2017
802439
Okamura-Ikeda K.,Hosaka H.,Yoshimura M.,Yamashita E.,Toma S.,Nakagawa A.,Fujiwara K.,Motokawa Y.,Taniguchi H.
Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia.
J. Mol. Biol.
351
1146-1159
2005
802440
Nanao K.,Okamura-Ikeda K.,Motokawa Y.,Danks D.M.,Baumgartner E.R.,Takada G.,Hayasaka K.
Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.
Hum. Genet.
93
655-658
1994
802441
Kure S.,Mandel H.,Rolland M.-O.,Sakata Y.,Shinka T.,Drugan A.,Boneh A.,Tada K.,Matsubara Y.,Narisawa K.
A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.
Hum. Genet.
102
430-434
1998
802442
Kure S.,Shinka T.,Sakata Y.,Osamu N.,Takayanagi M.,Tada K.,Matsubara Y.,Narisawa K.
A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.
J. Hum. Genet.
43
135-137
1998
802443
Toone J.R.,Applegarth D.A.,Coulter-Mackie M.B.,James E.R.
Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.
Mol. Genet. Metab.
70
116-121
2000
802444
Toone J.R.,Applegarth D.A.,Coulter-Mackie M.B.,James E.R.
Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).
Mol. Genet. Metab.
72
322-325
2001
802445
Belcastro V.,Barbarini M.,Barca S.,Mauro I.
A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy.
Eur. J. Paediatr. Neurol.
20
192-195
2016