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

    Gene ID: 189, updated on 17-Jun-2024

    Summary

    Official Symbol
    AGXTprovided by HGNC
    Official Full Name
    alanine--glyoxylate aminotransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:341
    See related
    Ensembl:ENSG00000172482 MIM:604285; AllianceGenome:HGNC:341
    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; Ser-PyrAT
    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]
    Expression
    Restricted expression toward liver (RPKM 387.9) See more
    Orthologs
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    Genomic context

    See AGXT in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (240868824..240880500)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (241367223..241379660)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (241808241..241819917)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241637868-241638651 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:241646918-241647077 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241651331-241652138 Neighboring gene aquaporin 12A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241673162-241673662 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:241678910-241680109 Neighboring gene kinesin family member 1A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241736458-241736958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241736959-241737459 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241737588-241738429 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241751150-241751760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241756052-241756691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241760048-241760622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241771685-241772681 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241778610-241779110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241807760-241808260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241834201-241834836 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241836109-241836744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241841593-241842094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241842095-241842594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241844406-241844906 Neighboring gene mab-21 like 4 Neighboring gene ciliary rootlet coiled-coil, rootletin family member 2 Neighboring gene uncharacterized LOC112268440

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in peroxisomal matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in peroxisomal matrix TAS
    Traceable Author Statement
    more info
     
    is_active_in peroxisome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    alanine--glyoxylate aminotransferase
    Names
    L-alanine: glyoxylate aminotransferase 1
    alanine--glyoxylate and serine--pyruvate aminotransferase
    hepatic peroxisomal alanine:glyoxylate aminotransferase
    serine--pyruvate aminotransferase
    NP_000021.1

    NCBI Reference Sequences (RefSeq)

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    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
      5080..16756
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000030.3NP_000021.1  alanine--glyoxylate aminotransferase

      See identical proteins and their annotated locations for NP_000021.1

      Status: REVIEWED

      Source sequence(s)
      AA857309, AC104809, CB156891, X53414
      Consensus CDS
      CCDS2543.1
      UniProtKB/Swiss-Prot
      P21549, Q53QU6
      UniProtKB/TrEMBL
      A2V838
      Related
      ENSP00000302620.3, ENST00000307503.4
      Conserved Domains (1) 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), ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      240868824..240880500
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      241367223..241379660
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)