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Aliases for AGXT Gene

Aliases for AGXT Gene

  • Alanine-Glyoxylate Aminotransferase 2 3 5
  • L-Alanine: Glyoxylate Aminotransferase 1 2 3
  • Alanine--Glyoxylate Aminotransferase 3 4
  • Serine:Pyruvate Aminotransferase 2 3
  • SPAT 3 4
  • AGT1 3 4
  • AGT 3 4
  • SPT 3 4
  • Hepatic Peroxisomal Alanine:Glyoxylate Aminotransferase 3
  • Serine-Pyruvate Aminotransferase 3
  • Primary Hyperoxaluria Type 1 2
  • Glycolicaciduria 2
  • EC 2.6.1.51 4
  • EC 2.6.1.44 4
  • Oxalosis I 2
  • AGXT1 3
  • TLH6 3
  • PH1 3

External Ids for AGXT Gene

Previous HGNC Symbols for AGXT Gene

  • SPAT

Previous GeneCards Identifiers for AGXT Gene

  • GC02P239620
  • GC02M240478
  • GC02P241827
  • GC02P242128
  • GC02P241528
  • GC02P241456
  • GC02P233568
  • GC02P241807

Summaries for AGXT Gene

Entrez Gene Summary for AGXT Gene

  • This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]

GeneCards Summary for AGXT Gene

AGXT (Alanine-Glyoxylate Aminotransferase) is a Protein Coding gene. Diseases associated with AGXT include hyperoxaluria, primary, type 1 and primary hyperoxaluria. Among its related pathways are Signaling by GPCR and Metabolism. GO annotations related to this gene include protein homodimerization activity and pyridoxal phosphate binding.

Gene Wiki entry for AGXT Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGXT Gene

Genomics for AGXT Gene

Regulatory Elements for AGXT Gene

Genomic Location for AGXT Gene

Chromosome:
2
Start:
240,868,479 bp from pter
End:
240,880,502 bp from pter
Size:
12,024 bases
Orientation:
Plus strand

Genomic View for AGXT Gene

Genes around AGXT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGXT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGXT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGXT Gene

Proteins for AGXT Gene

  • Protein details for AGXT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21549-SPYA_HUMAN
    Recommended name:
    Serine--pyruvate aminotransferase
    Protein Accession:
    P21549
    Secondary Accessions:
    • Q53QU6

    Protein attributes for AGXT Gene

    Size:
    392 amino acids
    Molecular mass:
    43010 Da
    Cofactor:
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for AGXT Gene

neXtProt entry for AGXT Gene

Proteomics data for AGXT Gene at MOPED

Post-translational modifications for AGXT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AGXT Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for AGXT

No data available for DME Specific Peptides for AGXT Gene

Domains & Families for AGXT Gene

Graphical View of Domain Structure for InterPro Entry

P21549

UniProtKB/Swiss-Prot:

SPYA_HUMAN :
  • Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family.
Family:
  • Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with AGXT: view

No data available for Gene Families for AGXT Gene

Function for AGXT Gene

Molecular function for AGXT Gene

GENATLAS Biochemistry:
alanine
UniProtKB/Swiss-Prot CatalyticActivity:
L-serine + pyruvate = 3-hydroxypyruvate + L-alanine.
UniProtKB/Swiss-Prot CatalyticActivity:
L-alanine + glyoxylate = pyruvate + glycine.

Enzyme Numbers (IUBMB) for AGXT Gene

Gene Ontology (GO) - Molecular Function for AGXT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IPI 20178365
GO:0005515 protein binding IPI 15911627
GO:0043621 protein self-association IDA 16971151
genes like me logo Genes that share ontologies with AGXT: view
genes like me logo Genes that share phenotypes with AGXT: view

Human Phenotype Ontology for AGXT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AGXT Gene

MGI Knock Outs for AGXT:

Animal Model Products

  • Taconic Biosciences Mouse Models for AGXT

No data available for Transcription Factor Targets and HOMER Transcription for AGXT Gene

Localization for AGXT Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGXT Gene

Peroxisome. Mitochondrion. Note=Predominantly localized in the peroxisomes. Mitochondrial mistargeting occurs in variant proteins Arg-41, Arg-47, Ile-152, Arg-170 and Thr-244 associated with the disease HP1. {ECO:0000269 PubMed:23229545}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AGXT Gene COMPARTMENTS Subcellular localization image for AGXT gene
Compartment Confidence
peroxisome 5
mitochondrion 4
cytosol 3
nucleus 2

No data available for Gene Ontology (GO) - Cellular Components for AGXT Gene

Pathways & Interactions for AGXT Gene

genes like me logo Genes that share pathways with AGXT: view

Gene Ontology (GO) - Biological Process for AGXT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019448 L-cysteine catabolic process IDA 18492492
GO:0044281 small molecule metabolic process TAS --
GO:0046487 glyoxylate metabolic process IEA,TAS --
GO:0051384 response to glucocorticoid IEA --
genes like me logo Genes that share ontologies with AGXT: view

No data available for SIGNOR curated interactions for AGXT Gene

Drugs & Compounds for AGXT Gene

(17) Drugs for AGXT Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved Nutra Full agonist, Agonist, Target Endogenous potentiator, co-transmitter 94
L-Alanine Approved Nutra Full agonist, Agonist, Target Glycine receptor agonist 0
L-Serine Approved Nutra Full agonist, Agonist, Target 0
Pyruvic acid Approved Nutra 0
(Aminooxy)Acetic Acid Experimental Pharma Target 0

(11) Additional Compounds for AGXT Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
328-50-7
genes like me logo Genes that share compounds with AGXT: view

Transcripts for AGXT Gene

mRNA/cDNA for AGXT Gene

Unigene Clusters for AGXT Gene

Alanine-glyoxylate aminotransferase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AGXT Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2: - -
SP3:
SP4: -
SP5: - -

Relevant External Links for AGXT Gene

GeneLoc Exon Structure for
AGXT
ECgene alternative splicing isoforms for
AGXT

Expression for AGXT Gene

mRNA expression in normal human tissues for AGXT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AGXT Gene

This gene is overexpressed in Liver (x52.4).

Protein differential expression in normal tissues from HIPED for AGXT Gene

This gene is overexpressed in Liver, secretome (52.9) and Liver (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for AGXT Gene



SOURCE GeneReport for Unigene cluster for AGXT Gene Hs.144567

mRNA Expression by UniProt/SwissProt for AGXT Gene

P21549-SPYA_HUMAN
Tissue specificity: Liver.
genes like me logo Genes that share expression patterns with AGXT: view

Protein tissue co-expression partners for AGXT Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for AGXT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AGXT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AGXT 36
  • 98 (a)
OneToOne
AGXT 35
  • 98.94 (n)
  • 98.09 (a)
cow
(Bos Taurus)
Mammalia AGXT 35
  • 84.61 (n)
  • 80.87 (a)
AGXT 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 76 (a)
OneToMany
-- 36
  • 81 (a)
OneToMany
LOC100855679 35
  • 87.24 (n)
  • 85.46 (a)
mouse
(Mus musculus)
Mammalia Agxt 36
  • 73 (a)
OneToOne
Agxt 35
  • 77.81 (n)
  • 76.79 (a)
Agxt 16
oppossum
(Monodelphis domestica)
Mammalia AGXT 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AGXT 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Agxt 35
  • 79.17 (n)
  • 79.34 (a)
chicken
(Gallus gallus)
Aves AGXT 35
  • 69.05 (n)
  • 63.78 (a)
AGXT 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AGXT 36
  • 61 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia agt 35
tropical clawed frog
(Silurana tropicalis)
Amphibia agxt 35
  • 64.68 (n)
  • 67.79 (a)
Str.5789 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13909 35
zebrafish
(Danio rerio)
Actinopterygii agxta 36
  • 58 (a)
OneToMany
agxtb 36
  • 53 (a)
OneToMany
agxt 35
agxta 35
  • 60.47 (n)
  • 59.17 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003490 35
  • 54.64 (n)
  • 46.42 (a)
fruit fly
(Drosophila melanogaster)
Insecta Spat 37
  • 48 (a)
Spat 35
  • 55.47 (n)
  • 45.77 (a)
Spat 36
  • 44 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T14D7.1 37
  • 44 (a)
T14D7.1 35
  • 48.4 (n)
  • 44.12 (a)
T14D7.1 36
  • 41 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AGX1 35
  • 39.08 (n)
  • 28.36 (a)
AGX1 36
  • 23 (a)
OneToOne
AGX1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F08954g 35
  • 39.22 (n)
  • 28.85 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AGT 35
  • 42.68 (n)
  • 32.93 (a)
rice
(Oryza sativa)
Liliopsida Os08g0502700 35
  • 47.99 (n)
  • 32.23 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01821 35
  • 45.81 (n)
  • 27.6 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
OneToOne
Species with no ortholog for AGXT:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AGXT Gene

ENSEMBL:
Gene Tree for AGXT (if available)
TreeFam:
Gene Tree for AGXT (if available)

Paralogs for AGXT Gene

(1) SIMAP similar genes for AGXT Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with AGXT: view

No data available for Paralogs for AGXT Gene

Variants for AGXT Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for AGXT Gene

P21549-SPYA_HUMAN
Polymorphism at position 11 acts synergistically with different mutations in AGXT producing specific enzymic phenotypes in HP1 patients. The combined presence of Leu-11 and Met-340 polymorphisms defines the minor AGXT allele, whereas their absence defines the major allele. The minor allele has frequencies of 20% in normal European and North American populations, and 50% in HP1 patients.

Sequence variations from dbSNP and Humsavar for AGXT Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_000587 -
VAR_000588 Hyperoxaluria primary 1 (HP1)
VAR_000589 Hyperoxaluria primary 1 (HP1)
VAR_000590 Hyperoxaluria primary 1 (HP1)
VAR_000591 Hyperoxaluria primary 1 (HP1)

Structural Variations from Database of Genomic Variants (DGV) for AGXT Gene

Variant ID Type Subtype PubMed ID
nsv876116 CNV Loss 21882294
nsv470531 CNV Loss 18288195
dgv4482n71 CNV Loss 21882294
nsv460167 CNV Gain 19166990
dgv4484n71 CNV Loss 21882294
dgv4485n71 CNV Loss 21882294
dgv4486n71 CNV Loss 21882294
dgv4487n71 CNV Loss 21882294
nsv876204 CNV Loss 21882294
dgv4488n71 CNV Loss 21882294
nsv876208 CNV Loss 21882294
nsv876209 CNV Loss 21882294
esv1196389 CNV Insertion 17803354
esv1710219 CNV Insertion 17803354
nsv876210 CNV Loss 21882294
dgv771e199 CNV Deletion 23128226

Variation tolerance for AGXT Gene

Residual Variation Intolerance Score: 83.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.69; 66.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AGXT Gene

HapMap Linkage Disequilibrium report
AGXT
Human Gene Mutation Database (HGMD)
AGXT

Disorders for AGXT Gene

MalaCards: The human disease database

(14) MalaCards diseases for AGXT Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperoxaluria, primary, type 1
  • primary hyperoxaluria type 1
primary hyperoxaluria
  • hyperoxaluria, primary
nephrocalcinosis
  • hypercalcemic nephropathy
autosomal recessive disease
nephrolithiasis
  • calculus of kidney and ureter
- elite association - COSMIC cancer census association via MalaCards
Search AGXT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SPYA_HUMAN
  • Hyperoxaluria primary 1 (HP1) [MIM:259900]: An inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and progressive tissue accumulation of insoluble calcium oxalate. Affected individuals are at risk for nephrolithiasis, nephrocalcinosis and early onset end-stage renal disease. {ECO:0000269 PubMed:10394939, ECO:0000269 PubMed:10453743, ECO:0000269 PubMed:10541294, ECO:0000269 PubMed:10862087, ECO:0000269 PubMed:12559847, ECO:0000269 PubMed:1301173, ECO:0000269 PubMed:1349575, ECO:0000269 PubMed:15253729, ECO:0000269 PubMed:15849466, ECO:0000269 PubMed:15961946, ECO:0000269 PubMed:15963748, ECO:0000269 PubMed:16971151, ECO:0000269 PubMed:1703535, ECO:0000269 PubMed:17495019, ECO:0000269 PubMed:2039493, ECO:0000269 PubMed:23229545, ECO:0000269 PubMed:24055001, ECO:0000269 PubMed:24934730, ECO:0000269 PubMed:26149463, ECO:0000269 PubMed:8101040, ECO:0000269 PubMed:9192270, ECO:0000269 PubMed:9604803}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for AGXT Gene

oxalosis (hyperoxaluria type I)

Relevant External Links for AGXT

Genetic Association Database (GAD)
AGXT
Human Genome Epidemiology (HuGE) Navigator
AGXT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AGXT
genes like me logo Genes that share disorders with AGXT: view

Publications for AGXT Gene

  1. Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1. (PMID: 17495019) Williams E. … Rumsby G. (Clin. Chem. 2007) 3 4 23 48 67
  2. Alanine-glyoxylate aminotransferase-deficient mice, a model for primary hyperoxaluria that responds to adenoviral gene transfer. (PMID: 17110443) Salido E.C. … Roy-Chowdhury J. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 23 25 26
  3. AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria. (PMID: 11562405) Amoroso A. … Marangella M. (J. Am. Soc. Nephrol. 2001) 3 23 25 26
  4. Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene. (PMID: 10453743) Pirulli D. … Florian F. (Hum. Genet. 1999) 3 25 26
  5. Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene. (PMID: 2039493) Nishiyama K. … Ichiyama A. (Biochem. Biophys. Res. Commun. 1991) 2 3 23

Products for AGXT Gene

Sources for AGXT Gene

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