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Aliases for AGXT Gene

Aliases for AGXT Gene

  • Alanine-Glyoxylate Aminotransferase 2 3
  • SPAT 3 4 6
  • L-Alanine: Glyoxylate Aminotransferase 1 2 3
  • Alanine--Glyoxylate Aminotransferase 3 4
  • Serine:Pyruvate Aminotransferase 2 3
  • AGT1 3 4
  • AGT 3 4
  • SPT 3 4
  • Hepatic Peroxisomal Alanine:Glyoxylate Aminotransferase 3
  • Serine--Pyruvate 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 p70S6K Signaling. 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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for AGXT Gene

Domains for AGXT Gene

Suggested Antigen Peptide Sequences for AGXT Gene

Graphical View of Domain Structure for InterPro Entry

P21549

UniProtKB/Swiss-Prot:

SPYA_HUMAN :
  • P21549
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 IEA --
GO:0005102 receptor binding IPI 20178365
GO:0005515 protein binding IPI 15911627
GO:0008453 alanine-glyoxylate transaminase activity TAS 2363689
GO:0008483 transaminase activity IDA 18492492
genes like me logo Genes that share ontologies with AGXT: view

Phenotypes for AGXT Gene

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

Animal Models for AGXT Gene

MGI Knock Outs for AGXT:

Animal Model Products

CRISPR Products

miRNA for AGXT Gene

miRTarBase miRNAs that target AGXT

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AGXT

In Situ Assay Products

Flow Cytometry Products

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

Localization for AGXT Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGXT Gene

Peroxisome. Mitochondrion matrix. Note=Except in some HP1 patients where AGT is found in the mitochondrial matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AGXT Gene COMPARTMENTS Subcellular localization image for AGXT gene
Compartment Confidence
mitochondrion 5
peroxisome 5
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for AGXT Gene

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

Pathways for AGXT Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for AGXT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process --
GO:0009436 glyoxylate catabolic process IDA 22198249
GO:0019265 glycine biosynthetic process, by transamination of glyoxylate IDA 22198249
GO:0019448 L-cysteine catabolic process IDA 18492492
GO:0034641 cellular nitrogen compound metabolic process TAS --
genes like me logo Genes that share ontologies with AGXT: view

Compounds for AGXT Gene

(8) HMDB Compounds for AGXT Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Glycine
  • 2-Aminoacetate
56-40-6
Glyoxylic acid
  • Formylformate
298-12-4
Hydroxypyruvic acid
  • 3-Hydroxy-2-oxopropanoate
1113-60-6
L-Alanine
  • (2S)-2-Aminopropanoate
56-41-7

(7) Drugbank Compounds for AGXT Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
(Aminooxy)Acetic Acid
2921-14-4 target
4-(2-AMINOPHENYL)-4-OXOBUTANOIC ACID
target
Glycine
  • 2-Aminoacetic acid
56-40-6 target
L-Alanine
  • (2S)-2-Aminopropanoic acid
56-41-7 target
L-Serine
  • (-)-Serine
56-45-1 target

(16) Novoseek inferred chemical compound relationships for AGXT Gene

Compound -log(P) Hits PubMed IDs
glyoxylate 90.5 32
oxalate 86.9 22
calcium oxalate 78.4 4
polyglycolic acid 73 9
vitamin b6 69.9 2
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AGXT

Primer 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 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 (52.4).

Integrated Proteomics: protein expression 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 expressions with AGXT: view

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 35
  • 98.94 (n)
  • 98.09 (a)
AGXT 36
  • 98 (a)
OneToOne
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 35
  • 77.81 (n)
  • 76.79 (a)
Agxt 16
Agxt 36
  • 73 (a)
OneToOne
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 agxt 35
agxta 35
  • 60.47 (n)
  • 59.17 (a)
agxta 36
  • 58 (a)
OneToMany
agxtb 36
  • 53 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003490 35
  • 54.64 (n)
  • 46.42 (a)
fruit fly
(Drosophila melanogaster)
Insecta Spat 35
  • 55.47 (n)
  • 45.77 (a)
Spat 36
  • 44 (a)
OneToOne
Spat 37
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea T14D7.1 35
  • 48.4 (n)
  • 44.12 (a)
T14D7.1 36
  • 41 (a)
OneToOne
T14D7.1 37
  • 44 (a)
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

Selected 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 MAF
rs3196760 -- 240,878,855(+) GCACA(A/C)ACCTG utr-variant-3-prime
rs4073369 -- 240,877,805(+) GCTCC(C/T)GGCCT intron-variant
rs4073370 -- 240,877,855(+) GGAAG(G/T)TGCCC intron-variant
rs4073597 -- 240,878,510(-) CACCC(A/G)CAGCC intron-variant
rs4234095 -- 240,879,320(+) CCACA(C/T)GGCGC downstream-variant-500B

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

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

MalaCards: The human disease database. (3) Diseases for AGXT Gene including...

Search for AGXT Gene in MalaCards »

(1) OMIM Diseases for AGXT Gene (604285)

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:1703535, ECO:0000269 PubMed:2039493, 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.

(14) Novoseek inferred disease relationships for AGXT Gene

Disease -log(P) Hits PubMed IDs
hyperoxaluria primary 98.1 90
hyperoxaluria, primary, type i 95.3 15
hyperoxaluria 90.9 15
nephrocalcinosis 76.3 2
urolithiasis 67.9 1

Genatlas disease for AGXT Gene

oxalosis (hyperoxaluria type I)

Relevant External Links for AGXT

GeneTests
AGXT
GeneReviews
AGXT
Genetic Association Database (GAD)
AGXT
Human Genome Epidemiology (HuGE) Navigator
AGXT
genes like me logo Genes that share disorders with AGXT: view

Publications for AGXT Gene

  1. 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 23
  2. 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 23
  3. 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 4 23 25
  4. 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 48
  5. A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1. (PMID: 1349575) Purdue P.E. … Danpure C.J. (Genomics 1992) 3 4 23

Products for AGXT Gene

Sources for AGXT Gene

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