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    GPT glutamic--pyruvic transaminase [ Homo sapiens (human) ]

    Gene ID: 2875, updated on 11-Jun-2021

    Summary

    Official Symbol
    GPTprovided by HGNC
    Official Full Name
    glutamic--pyruvic transaminaseprovided by HGNC
    Primary source
    HGNC:HGNC:4552
    See related
    Ensembl:ENSG00000167701 MIM:138200
    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
    AAT1; ALT1; GPT1
    Summary
    This gene encodes cytosolic alanine aminotransaminase 1 (ALT1); also known as glutamate-pyruvate transaminase 1. This enzyme catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate and, therefore, plays a key role in the intermediary metabolism of glucose and amino acids. Serum activity levels of this enzyme are routinely used as a biomarker of liver injury caused by drug toxicity, infection, alcohol, and steatosis. A related gene on chromosome 16 encodes a putative mitochondrial alanine aminotransaminase.[provided by RefSeq, Nov 2009]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process.
    Expression
    Biased expression in liver (RPKM 18.5), kidney (RPKM 12.6) and 12 other tissues See more
    Orthologs
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    Genomic context

    See GPT in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (144503068..144507172)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145728451..145732555)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene kinesin family member C2 Neighboring gene forkhead box H1 Neighboring gene protein phosphatase 1 regulatory subunit 16A Neighboring gene uncharacterized LOC101928953 Neighboring gene major facilitator superfamily domain containing 3 Neighboring gene RecQ like helicase 4

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-alanine:2-oxoglutarate aminotransferase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables pyridoxal phosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in L-alanine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to insulin stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gluconeogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pyruvate family amino acid metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in response to starvation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 

    General protein information

    Preferred Names
    alanine aminotransferase 1
    Names
    alanine aminotransferase
    alanine transaminase
    glutamate pyruvate transaminase 1
    glutamic--pyruvic transaminase 1
    glutamic-alanine transaminase 1
    glutamic-pyruvate transaminase (alanine aminotransferase)
    NP_001369593.1
    NP_001369594.1
    NP_005300.1

    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_015828.1 RefSeqGene

      Range
      5059..8091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001382664.1NP_001369593.1  alanine aminotransferase 1

      Status: REVIEWED

      Source sequence(s)
      AC084125
      Related
      ENSP00000433586.1, ENST00000528431.5
      Conserved Domains (1) summary
      PTZ00377
      Location:17496
      PTZ00377; alanine aminotransferase; Provisional
    2. NM_001382665.1NP_001369594.1  alanine aminotransferase 1

      Status: REVIEWED

      Source sequence(s)
      AC084125
      Conserved Domains (1) summary
      PTZ00377
      Location:17496
      PTZ00377; alanine aminotransferase; Provisional
    3. NM_005309.3NP_005300.1  alanine aminotransferase 1

      See identical proteins and their annotated locations for NP_005300.1

      Status: REVIEWED

      Source sequence(s)
      AI283141, BP275218, BT006992
      Consensus CDS
      CCDS6430.1
      UniProtKB/Swiss-Prot
      P24298
      Related
      ENSP00000378408.2, ENST00000394955.3
      Conserved Domains (1) summary
      PTZ00377
      Location:17496
      PTZ00377; alanine aminotransferase; Provisional

    RNA

    1. NR_168476.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC084125
    2. NR_168477.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC084125

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      144503068..144507172
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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