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

    Gene ID: 2875, updated on 24-Aug-2019

    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]
    Expression
    Biased expression in liver (RPKM 18.5), kidney (RPKM 12.6) and 12 other tissues See more
    Orthologs

    Genomic context

    See GPT in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (144502217..144507174)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145729465..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

    NHGRI GWAS Catalog

    Description
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    L-alanine:2-oxoglutarate aminotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    L-alanine:2-oxoglutarate aminotransferase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    pyridoxal phosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    L-alanine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    cellular amino acid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 

    General protein information

    Preferred Names
    alanine aminotransferase 1
    Names
    GPT 1
    alanine aminotransferase
    alanine transaminase
    glutamate pyruvate transaminase 1
    glutamic--pyruvic transaminase 1
    glutamic-alanine transaminase 1
    glutamic-pyruvate transaminase (alanine aminotransferase)
    NP_005300.1
    XP_011515295.1

    NCBI Reference Sequences (RefSeq)

    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_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 (2) summary
      cd00609
      Location:98470
      AAT_like; Aspartate aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). Pyridoxal phosphate combines with an alpha-amino acid to form a compound called a Schiff base or aldimine ...
      PTZ00377
      Location:17496
      PTZ00377; alanine aminotransferase; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    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
      144502217..144507174
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516993.2XP_011515295.1  alanine aminotransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_011515295.1

      UniProtKB/Swiss-Prot
      P24298
      Related
      ENSP00000433586.1, ENST00000528431.5
      Conserved Domains (2) summary
      cd00609
      Location:98470
      AAT_like; Aspartate aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). Pyridoxal phosphate combines with an alpha-amino acid to form a compound called a Schiff base or aldimine ...
      PTZ00377
      Location:17496
      PTZ00377; alanine aminotransferase; Provisional
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