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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
  • SPAT 3 4
  • AGT1 3 4
  • AGT 3 4
  • SPT 3 4
  • Hepatic Peroxisomal Alanine:Glyoxylate Aminotransferase 3
  • Alanine--Glyoxylate Aminotransferase 4
  • Serine--Pyruvate Aminotransferase 3
  • Serine:Pyruvate Aminotransferase 2
  • 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 Glycine, serine and threonine metabolism 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

Enhancers for AGXT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F240856 1.3 FANTOM5 ENCODE 10.5 -10.9 -10899 1.2 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 SLC30A9 ZNF121 ZNF143 SP5 C2orf54 AGXT GPR35 KIF1A
GH02F240840 0.8 ENCODE 11.4 -27.9 -27851 0.1 CTCF MXI1 SAP130 ARID4B THRB ZIC2 RAD21 TEAD3 RFXANK ZNF143 AGXT CAPN10-AS1 PASK PPP1R7 KIF1A
GH02F240912 1.4 FANTOM5 Ensembl ENCODE 6.3 +47.1 47145 5.8 ZNF76 KLF17 ARID4B ZNF2 RAD21 GLIS2 ZNF143 FOS THAP11 ZNF654 C2orf54 AGXT ENSG00000223991 SNED1 GPC1 RNPEPL1 CROCC2 GC02M240925
GH02F240873 1 ENCODE 8.5 +6.9 6876 3.6 ATF1 MLX ARID4B DMAP1 YBX1 ZNF48 YY1 SLC30A9 ZNF143 SP5 C2orf54 ENSG00000235351 CAPN10-AS1 AGXT
GH02F240895 1.1 Ensembl ENCODE 7.4 +28.9 28866 3.9 PKNOX1 KLF17 ARID4B ZNF48 RAD21 ZEB1 RARA GLIS2 FOS SP5 C2orf54 AGXT CROCC2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AGXT on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for AGXT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AGXT Gene

ENSEMBL proteins:
REFSEQ proteins:

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:0004760 serine-pyruvate transaminase activity IBA --
GO:0005102 receptor binding IPI 20178365
GO:0005515 protein binding IPI 15911627
GO:0008453 alanine-glyoxylate transaminase activity IDA,TAS 2363689
GO:0008483 transaminase activity IEA,IDA 18492492
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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AGXT gene
Compartment Confidence
peroxisome 5
mitochondrion 4
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for AGXT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix IEA --
GO:0005777 peroxisome IEA,IDA 1703535
GO:0005782 peroxisomal matrix IDA,TAS --
genes like me logo Genes that share ontologies with AGXT: view

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:0007219 Notch signaling pathway IEA --
GO:0009436 glyoxylate catabolic process IDA 22198249
GO:0010498 proteasomal protein catabolic process IDA 16971151
GO:0019265 glycine biosynthetic process, by transamination of glyoxylate IEA,IDA 22198249
GO:0019448 L-cysteine catabolic process IDA 18492492
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved, Vet_approved Nutra Full agonist, Agonist, Target 226
L-Alanine Approved Nutra Full agonist, Agonist, Target Glycine receptor agonist 0
L-Serine Approved Nutra Full agonist, Agonist, Target Weak endogenous glycine receptor agonist 0
Pyruvic acid Approved Nutra 0
aminooxyacetic acid Experimental Pharma Inhibition, Inhibitor, Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Glyoxylic acid
  • a-Ketoacetate
  • a-Ketoacetic acid
  • alpha-Ketoacetate
  • alpha-Ketoacetic acid
  • Formylformate
298-12-4
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

Unigene Clusters for AGXT Gene

Alanine-glyoxylate aminotransferase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for AGXT Gene



Protein tissue co-expression partners for AGXT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AGXT Gene:

AGXT

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

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 34 35
  • 98.94 (n)
dog
(Canis familiaris)
Mammalia LOC100855679 34
  • 87.24 (n)
-- 35
  • 81 (a)
OneToMany
-- 35
  • 76 (a)
OneToMany
cow
(Bos Taurus)
Mammalia AGXT 34 35
  • 84.61 (n)
rat
(Rattus norvegicus)
Mammalia Agxt 34
  • 79.17 (n)
mouse
(Mus musculus)
Mammalia Agxt 34 16 35
  • 77.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AGXT 35
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AGXT 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves AGXT 34 35
  • 69.05 (n)
lizard
(Anolis carolinensis)
Reptilia AGXT 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia agxt 34
  • 64.68 (n)
Str.5789 34
African clawed frog
(Xenopus laevis)
Amphibia agt 34
zebrafish
(Danio rerio)
Actinopterygii agxta 34 35
  • 60.47 (n)
agxtb 35
  • 53 (a)
OneToMany
agxt 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13909 34
fruit fly
(Drosophila melanogaster)
Insecta Spat 36 34 35
  • 55.47 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003490 34
  • 54.64 (n)
worm
(Caenorhabditis elegans)
Secernentea T14D7.1 36 34 35
  • 48.4 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F08954g 34
  • 39.22 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AGX1 34 35 37
  • 39.08 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AGT 34
  • 42.68 (n)
rice
(Oryza sativa)
Liliopsida Os08g0502700 34
  • 47.99 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01821 34
  • 45.81 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 23 (a)
OneToOne
Species where no ortholog for AGXT was found in the sources mined by GeneCards:
  • 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

SPYA_HUMAN-P21549
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
rs121908520 Hyperoxaluria primary 1 (HP1) [MIM:259900], Pathogenic 240,873,995(+) TGTAC(C/T)CGGGC reference, missense
rs121908522 Hyperoxaluria primary 1 (HP1) [MIM:259900], Pathogenic 240,869,249(+) CTCGG(A/G)ACACT reference, missense
rs121908523 Hyperoxaluria primary 1 (HP1) [MIM:259900], Pathogenic 240,868,986(+) CAGCC(A/G)GGGGG reference, missense
rs121908524 Hyperoxaluria primary 1 (HP1) [MIM:259900], Pathogenic 240,871,379(+) TGCTG(A/T)TCTTA reference, missense
rs121908525 Hyperoxaluria primary 1 (HP1) [MIM:259900], Pathogenic 240,875,159(+) GGACA(C/T)CAAGT reference, missense

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

Variant ID Type Subtype PubMed ID
dgv7374n54 CNV loss 21841781
dgv7375n54 CNV loss 21841781
dgv771e199 CNV deletion 23128226
esv1196389 CNV insertion 17803354
esv1710219 CNV insertion 17803354
esv3594810 CNV loss 21293372
nsv1149735 CNV deletion 26484159
nsv460167 CNV gain 19166990
nsv955294 CNV deletion 24416366
nsv584886 CNV loss 21841781
nsv584881 CNV gain 21841781
nsv584861 CNV gain 21841781
nsv470531 CNV loss 18288195

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

Human Gene Mutation Database (HGMD)
AGXT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AGXT

Disorders for AGXT Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hyperoxaluria, primary, type 1
  • hyperoxaluria, primary, type i
primary hyperoxaluria
  • hyperoxaluria, primary
nephrolithiasis
  • calculus of kidney and ureter
nephrocalcinosis
  • hypercalcemic nephropathy
autosomal recessive disease
  • autosomal recessive disorder
- 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 22 46 64
  2. 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 22 25 46 64
  3. 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 4 22 64
  4. Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase. (PMID: 2045108) Purdue P.E. … Danpure C.J. (Genomics 1991) 2 3 4 22 64
  5. Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis. (PMID: 17460142) Monico C.G. … Milliner D.S. (J. Am. Soc. Nephrol. 2007) 3 22 46 64

Products for AGXT Gene

Sources for AGXT Gene

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