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    AGXT alanine-glyoxylate aminotransferase [ Homo sapiens (human) ]

    Gene ID: 189, updated on 20-Apr-2017
    Official Symbol
    AGXTprovided by HGNC
    Official Full Name
    alanine-glyoxylate aminotransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:341
    See related
    Ensembl:ENSG00000172482 MIM:604285; Vega:OTTHUMG00000133354
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AGT; PH1; SPT; AGT1; SPAT; TLH6; AGXT1
    Summary
    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]
    Orthologs
    Location:
    2q37.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (240868745..240879119)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (241808162..241818536)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene aquaporin 12A Neighboring gene kinesin family member 1A Neighboring gene chromosome 2 open reading frame 54 Neighboring gene ciliary rootlet coiled-coil, rootletin family member 2 Neighboring gene uncharacterized LOC200772

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    alanine-glyoxylate transaminase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    alanine-glyoxylate transaminase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    amino acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein self-association IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pyridoxal phosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pyridoxal phosphate binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    serine-pyruvate transaminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transaminase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    L-alanine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    L-cysteine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    glycine biosynthetic process, by transamination of glyoxylate IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glyoxylate catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glyoxylate metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glyoxylate metabolic process TAS
    Traceable Author Statement
    more info
     
    oxalic acid secretion IEA
    Inferred from Electronic Annotation
    more info
     
    pyruvate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    response to glucocorticoid IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
     
    peroxisomal matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxisomal matrix TAS
    Traceable Author Statement
    more info
     
    peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    serine--pyruvate aminotransferase
    Names
    L-alanine: glyoxylate aminotransferase 1
    hepatic peroxisomal alanine:glyoxylate aminotransferase
    NP_000021.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008005.1 RefSeqGene

      Range
      5001..15375
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000030.2NP_000021.1  serine--pyruvate aminotransferase

      See identical proteins and their annotated locations for NP_000021.1

      Status: REVIEWED

      Source sequence(s)
      AA857309, CB156891, X53414
      Consensus CDS
      CCDS2543.1
      UniProtKB/Swiss-Prot
      P21549
      Related
      ENSP00000302620.3, OTTHUMP00000164504, ENST00000307503.3, OTTHUMT00000257186
      Conserved Domains (2) summary
      cd06451
      Location:24385
      AGAT_like; Alanine-glyoxylate aminotransferase (AGAT) family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to alanine-glyoxylate aminotransferase (AGAT), ...
      COG0075
      Location:21384
      PucG; Archaeal aspartate aminotransferase or a related aminotransferase, includes purine catabolism protein PucG [Amino acid transport and metabolism, Nucleotide transport and metabolism]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      240868745..240879119
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      241814212..241824586
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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