Sequence of AGT1_HUMAN

alanine-glyoxylate transaminase

P21549

392

43010

serine-pyruvate transaminase

P21549

392

43010

896104

Nishiyama K.,Berstein G.,Oda T.,Ichiyama A.

Cloning and nucleotide sequence of cDNA encoding human liver serine-pyruvate aminotransferase.

Eur. J. Biochem.

194

9-18

1990

896105

Purdue P.E.,Takada Y.,Danpure C.J.

Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.

J. Cell Biol.

111

2341-2351

1990

896106

Takada Y.,Kaneko N.,Esumi H.,Purdue P.E.,Danpure C.J.

Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon.

Biochem. J.

268

517-520

1990

896107

Purdue P.E.,Lumb M.J.,Fox M.,Griffo G.,Hamon-Benais C.,Povey S.,Danpure C.J.

Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase.

Genomics

10

34-42

1991

896108

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

896109

Hillier L.W.,Graves T.A.,Fulton R.S.,Fulton L.A.,Pepin K.H.,Minx P.,Wagner-McPherson C.,Layman D.,Wylie K.,Sekhon M.,Becker M.C.,Fewell G.A.,Delehaunty K.D.,Miner T.L.,Nash W.E.,Kremitzki C.,Oddy L.,Du H.,Sun H.,Bradshaw-Cordum H.,Ali J.,Carter J.,Cordes M.,Harris A.,Isak A.,van Brunt A.,Nguyen C.,Du F.,Courtney L.,Kalicki J.,Ozersky P.,Abbott S.,Armstrong J.,Belter E.A.,Caruso L.,Cedroni M.,Cotton M.,Davidson T.,Desai A.,Elliott G.,Erb T.,Fronick C.,Gaige T.,Haakenson W.,Haglund K.,Holmes A.,Harkins R.,Kim K.,Kruchowski S.S.,Strong C.M.,Grewal N.,Goyea E.,Hou S.,Levy A.,Martinka S.,Mead K.,McLellan M.D.,Meyer R.,Randall-Maher J.,Tomlinson C.,Dauphin-Kohlberg S.,Kozlowicz-Reilly A.,Shah N.,Swearengen-Shahid S.,Snider J.,Strong J.T.,Thompson J.,Yoakum M.,Leonard S.,Pearman C.,Trani L.,Radionenko M.,Waligorski J.E.,Wang C.,Rock S.M.,Tin-Wollam A.-M.,Maupin R.,Latreille P.,Wendl M.C.,Yang S.-P.,Pohl C.,Wallis J.W.,Spieth J.,Bieri T.A.,Berkowicz N.,Nelson J.O.,Osborne J.,Ding L.,Meyer R.,Sabo A.,Shotland Y.,Sinha P.,Wohldmann P.E.,Cook L.L.,Hickenbotham M.T.,Eldred J.,Williams D.,Jones T.A.,She X.,Ciccarelli F.D.,Izaurralde E.,Taylor J.,Schmutz J.,Myers R.M.,Cox D.R.,Huang X.,McPherson J.D.,Mardis E.R.,Clifton S.W.,Warren W.C.,Chinwalla A.T.,Eddy S.R.,Marra M.A.,Ovcharenko I.,Furey T.S.,Miller W.,Eichler E.E.,Bork P.,Suyama M.,Torrents D.,Waterston R.H.,Wilson R.K.

Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

Nature

434

724-731

2005

896111

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

Genome Res.

14

2121-2127

2004

896112

Xue H.H.,Sakaguchi T.,Fujie M.,Ogawa H.,Ichiyama A.

Flux of the L-serine metabolism in rabbit, human, and dog livers. Substantial contributions of both mitochondrial and peroxisomal serine:pyruvate/alanine:glyoxylate aminotransferase.

J. Biol. Chem.

274

16028-16033

1999

896113

Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

J. Proteomics

96

253-262

2014

896114

Zhang X.,Roe S.M.,Hou Y.,Bartlam M.,Rao Z.,Pearl L.H.,Danpure C.J.

Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1.

J. Mol. Biol.

331

643-652

2003

896115

Nishiyama K.,Funai T.,Katafuchi R.,Hattori F.,Onoyama K.,Ichiyama A.

Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene.

Biochem. Biophys. Res. Commun.

176

1093-1099

1991

896116

Purdue P.E.,Lumb M.J.,Allsop J.,Minatogawa Y.,Danpure C.J.

A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1.

Genomics

13

215-218

1992

896117

Minatogawa Y.,Tone S.,Allsop J.,Purdue P.E.,Takada Y.,Danpure C.J.,Kido R.

A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1.

Hum. Mol. Genet.

1

643-644

1992

896118

Danpure C.J.,Purdue P.E.,Fryer P.,Griffiths S.,Allsop J.,Lumb M.J.,Guttridge K.M.,Jennings P.R.,Scheinman J.I.,Mauer S.M.,Davidson N.O.

Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation.

Am. J. Hum. Genet.

53

417-432

1993

896119

Danpure C.J.

Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase.

Biochimie

75

309-315

1993

896120

von Schnakenburg C.,Rumsby G.

Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.

J. Med. Genet.

34

489-492

1997

896121

von Schnakenburg C.,Rumsby G.

Identification of new mutations in primary hyperoxaluria type 1 (PH1).

J. Nephrol.

11

15-17

1998

896122

Amoroso A.,Pirulli D.,Puzzer D.,Ferri L.,Crovella S.,Ferrettini C.,Marangella M.,Mazzola G.,Florian F.

Gene symbol: AGXT. Disease: primary hyperoxaluria type I.

Hum. Genet.

104

441-441

1999

896123

Pirulli D.,Puzzer D.,Ferri L.,Crovella S.,Amoroso A.,Ferrettini C.,Marangella M.,Mazzola G.,Florian F.

Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene.

Hum. Genet.

104

523-525

1999

896124

Rinat C.,Wanders R.J.A.,Drukker A.,Halle D.,Frishberg Y.

Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group.

J. Am. Soc. Nephrol.

10

2352-2358

1999

896125

Basmaison O.,Rolland M.-O.,Cochat P.,Bozon D.

Identification of 5 novel mutations in the AGXT gene.

Hum. Mutat.

15

577-577

2000

896126

Lumb M.J.,Danpure C.J.

Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations.

J. Biol. Chem.

275

36415-36422

2000

896127

Coulter-Mackie M.B.,Tung A.,Henderson H.E.,Toone J.R.,Applegarth D.A.

The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans.

Mol. Genet. Metab.

78

44-50

2003

896128

Santana A.,Salido E.,Torres A.,Shapiro L.J.

Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase.

Proc. Natl. Acad. Sci. U.S.A.

100

7277-7282

2003

896129

van Woerden C.S.,Groothoff J.W.,Wijburg F.A.,Annink C.,Wanders R.J.A.,Waterham H.R.

Clinical implications of mutation analysis in primary hyperoxaluria type 1.

Kidney Int.

66

746-752

2004

896130

Monico C.G.,Olson J.B.,Milliner D.S.

Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria.

Am. J. Nephrol.

25

183-188

2005

896131

Frishberg Y.,Rinat C.,Shalata A.,Khatib I.,Feinstein S.,Becker-Cohen R.,Weismann I.,Wanders R.J.A.,Rumsby G.,Roels F.,Mandel H.

Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel.

Am. J. Nephrol.

25

269-275

2005

896132

Coulter-Mackie M.B.,Lian Q.,Applegarth D.,Toone J.

The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.

Mol. Genet. Metab.

86

172-178

2005

896133

Coulter-Mackie M.B.,Lian Q.

Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations.

Mol. Genet. Metab.

89

349-359

2006

896134

Williams E.,Rumsby G.

Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.

Clin. Chem.

53

1216-1221

2007

896135

Oppici E.,Roncador A.,Montioli R.,Bianconi S.,Cellini B.

Gly161 mutations associated with primary hyperoxaluria type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.

Biochim. Biophys. Acta

1832

2277-2288

2013

896136

Fargue S.,Lewin J.,Rumsby G.,Danpure C.J.

Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele.

J. Biol. Chem.

288

2475-2484

2013

896137

Li G.M.,Xu H.,Shen Q.,Gong Y.N.,Fang X.Y.,Sun L.,Liu H.M.,An Y.

Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.

BMC Nephrol.

15

92-92

2014

896138

Montioli R.,Oppici E.,Dindo M.,Roncador A.,Gotte G.,Cellini B.,Borri Voltattorni C.

Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine.

Biochim. Biophys. Acta

1854

1280-1289

2015