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

    Gene ID: 2875, updated on 10-Mar-2024

    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; AllianceGenome:HGNC:4552
    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
    ALT; AAT1; ALT1; GPT1; SGPT
    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
    NEW
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    Genomic context

    See GPT in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144503068..144507172)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145672833..145676937)
    105.20220307 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145698787-145699682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145699683-145700576 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145701473-145702366 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19696 Neighboring gene forkhead box H1 Neighboring gene protein phosphatase 1 regulatory subunit 16A Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145709653-145710352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145710353-145711052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145715271-145715770 Neighboring gene uncharacterized LOC101928953 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145725199-145725860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19697 Neighboring gene Sharpr-MPRA regulatory region 2015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145729171-145729831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28101 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145735245-145735868 Neighboring gene major facilitator superfamily domain containing 3 Neighboring gene RecQ like helicase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19699

    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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    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)

    NEW Try the new Transcript table

    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
      Consensus CDS
      CCDS6430.1
      UniProtKB/Swiss-Prot
      B0YJ18, D3DWM7, P24298, P78398, Q93076
      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
      Consensus CDS
      CCDS6430.1
      UniProtKB/Swiss-Prot
      B0YJ18, D3DWM7, P24298, P78398, Q93076
      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
      B0YJ18, D3DWM7, P24298, P78398, Q93076
      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: 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_000008.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      145672833..145676937
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)