AGXT | ENSG00000172482 | NCBI 189

Details for: AGXT

Gene ID: 189

Symbol: AGXT

Ensembl ID: ENSG00000172482

Description: alanine--glyoxylate aminotransferase

Associated with

Glyoxylate metabolism and glycine degradation
(R-HSA-389661)
Metabolism
(R-HSA-1430728)
Metabolism of amino acids and derivatives
(R-HSA-71291)
Peroxisomal protein import
(R-HSA-9033241)
Protein localization
(R-HSA-9609507)
Alanine-glyoxylate transaminase activity
(GO:0008453)
Amino acid binding
(GO:0016597)
Cytosol
(GO:0005829)
Glycine biosynthetic process, by transamination of glyoxylate
(GO:0019265)
Glyoxylate catabolic process
(GO:0009436)
Glyoxylate metabolic process
(GO:0046487)
Identical protein binding
(GO:0042802)
Intracellular membrane-bounded organelle
(GO:0043231)
L-alanine catabolic process
(GO:0042853)
L-cysteine catabolic process
(GO:0019448)
L-serine metabolic process
(GO:0006563)
Notch signaling pathway
(GO:0007219)
Oxalic acid secretion
(GO:0046724)
Peroxisomal matrix
(GO:0005782)
Peroxisome
(GO:0005777)
Protein binding
(GO:0005515)
Protein homodimerization activity
(GO:0042803)
Protein self-association
(GO:0043621)
Pyridoxal phosphate binding
(GO:0030170)
Serine-pyruvate transaminase activity
(GO:0004760)
Transaminase activity
(GO:0008483)

Other Information

Proteins

AGT1_HUMAN

Genular Protein ID: 1927770238

Symbol: AGT1_HUMAN

Name: N/A

UniProtKB Accession Codes:

P21549 Q53QU6

Database IDs:

Citations:

PubMed ID: 2253628

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

PubMed ID: 2253628

DOI: 10.1111/j.1432-1033.1990.tb19420.x

PubMed ID: 1703535

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

PubMed ID: 1703535

DOI: 10.1083/jcb.111.6.2341

PubMed ID: 2363689

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

PubMed ID: 2363689

DOI: 10.1042/bj2680517

PubMed ID: 2045108

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

PubMed ID: 2045108

DOI: 10.1016/0888-7543(91)90481-s

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

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

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

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

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10347152

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

PubMed ID: 10347152

DOI: 10.1074/jbc.274.23.16028

PubMed ID: 24275569

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

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 12899834

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

PubMed ID: 12899834

DOI: 10.1016/s0022-2836(03)00791-5

PubMed ID: 2039493

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

PubMed ID: 2039493

DOI: 10.1016/0006-291x(91)90396-o

PubMed ID: 1349575

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

PubMed ID: 1349575

DOI: 10.1016/0888-7543(92)90225-h

PubMed ID: 1301173

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

PubMed ID: 1301173

DOI: 10.1093/hmg/1.8.643

PubMed ID: 8101040

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

PubMed ID: 8101040

PubMed ID: 8507692

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

PubMed ID: 8507692

DOI: 10.1016/0300-9084(93)90091-6

PubMed ID: 9192270

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

PubMed ID: 9192270

DOI: 10.1136/jmg.34.6.489

PubMed ID: 9604803

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

PubMed ID: 9604803

PubMed ID: 10394939

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

PubMed ID: 10394939

DOI: 10.1007/s004390050984

PubMed ID: 10453743

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

PubMed ID: 10453743

DOI: 10.1007/s004390050998

PubMed ID: 10541294

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

PubMed ID: 10541294

DOI: 10.1681/asn.v10112352

PubMed ID: 10862087

Title: Identification of 5 novel mutations in the AGXT gene.

PubMed ID: 10862087

DOI: 10.1002/1098-1004(200006)15:6<577::aid-humu9>3.0.co;2-#

PubMed ID: 10960483

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

PubMed ID: 10960483

DOI: 10.1074/jbc.m006693200

PubMed ID: 12559847

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

PubMed ID: 12559847

DOI: 10.1016/s1096-7192(02)00204-4

PubMed ID: 12777626

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

PubMed ID: 12777626

DOI: 10.1073/pnas.1131968100

PubMed ID: 15253729

Title: Clinical implications of mutation analysis in primary hyperoxaluria type 1.

PubMed ID: 15253729

DOI: 10.1111/j.1523-1755.2004.00796.x

PubMed ID: 15849466

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

PubMed ID: 15849466

DOI: 10.1159/000085411

PubMed ID: 15961946

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

PubMed ID: 15961946

DOI: 10.1159/000086357

PubMed ID: 15963748

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

PubMed ID: 15963748

DOI: 10.1016/j.ymgme.2005.05.005

PubMed ID: 16971151

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

PubMed ID: 16971151

DOI: 10.1016/j.ymgme.2006.07.013

PubMed ID: 17495019

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

PubMed ID: 17495019

DOI: 10.1373/clinchem.2006.084434

PubMed ID: 24055001

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

PubMed ID: 24055001

DOI: 10.1016/j.bbadis.2013.09.002

PubMed ID: 23229545

Title: 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.

PubMed ID: 23229545

DOI: 10.1074/jbc.m112.432617

PubMed ID: 24934730

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

PubMed ID: 24934730

DOI: 10.1186/1471-2369-15-92

PubMed ID: 26149463

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

PubMed ID: 26149463

DOI: 10.1016/j.bbapap.2015.07.002

Sequence Information:

Length: 392
Mass: 43010
Checksum: 2987DDE85B2470B4
Sequence:

MASHKLLVTP PKALLKPLSI PNQLLLGPGP SNLPPRIMAA GGLQMIGSMS KDMYQIMDEI 
KEGIQYVFQT RNPLTLVISG SGHCALEAAL VNVLEPGDSF LVGANGIWGQ RAVDIGERIG 
ARVHPMTKDP GGHYTLQEVE EGLAQHKPVL LFLTHGESST GVLQPLDGFG ELCHRYKCLL 
LVDSVASLGG TPLYMDRQGI DILYSGSQKA LNAPPGTSLI SFSDKAKKKM YSRKTKPFSF 
YLDIKWLANF WGCDDQPRMY HHTIPVISLY SLRESLALIA EQGLENSWRQ HREAAAYLHG 
RLQALGLQLF VKDPALRLPT VTTVAVPAGY DWRDIVSYVI DHFDIEIMGG LGPSTGKVLR 
IGLLGCNATR ENVDRVTEAL RAALQHCPKK KL

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: AGXT

Associated with

Other Information

Cloning and nucleotide sequence of cDNA encoding human liver serine-pyruvate aminotransferase. PubMed ID: 2253628

Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. PubMed ID: 1703535

Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon. PubMed ID: 2363689

Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase. PubMed ID: 2045108

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

Generation and annotation of the DNA sequences of human chromosomes 2 and 4. PubMed ID: 15815621

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Flux of the L-serine metabolism in rabbit, human, and dog livers. Substantial contributions of both mitochondrial and peroxisomal serine:pyruvate/alanine:glyoxylate aminotransferase. PubMed ID: 10347152

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1. PubMed ID: 12899834

Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene. PubMed ID: 2039493

A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1. PubMed ID: 1349575

A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1. PubMed ID: 1301173

Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation. PubMed ID: 8101040

Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase. PubMed ID: 8507692

Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene. PubMed ID: 9192270

Identification of new mutations in primary hyperoxaluria type 1 (PH1). PubMed ID: 9604803

Gene symbol: AGXT. Disease: primary hyperoxaluria type I. PubMed ID: 10394939

Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene. PubMed ID: 10453743

Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group. PubMed ID: 10541294

Identification of 5 novel mutations in the AGXT gene. PubMed ID: 10862087

Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations. PubMed ID: 10960483

The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans. PubMed ID: 12559847

Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase. PubMed ID: 12777626

Clinical implications of mutation analysis in primary hyperoxaluria type 1. PubMed ID: 15253729

Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria. PubMed ID: 15849466

Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel. PubMed ID: 15961946

The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1. PubMed ID: 15963748

Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations. PubMed ID: 16971151

Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1. PubMed ID: 17495019

Gly161 mutations associated with primary hyperoxaluria type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase. PubMed ID: 24055001

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. PubMed ID: 23229545

Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1. PubMed ID: 24934730

Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine. PubMed ID: 26149463