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

Gene ID: 2875, updated on 4-Jun-2020

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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (144503068..144507172)
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 PubChem

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 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
 
cellular response to insulin stimulus IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gluconeogenesis IEA
Inferred from Electronic Annotation
more info
 
response to starvation IEA
Inferred from Electronic Annotation
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
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)

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
  2. NM_001382665.1NP_001369594.1  alanine aminotransferase 1

    Status: REVIEWED

    Source sequence(s)
    AC084125
  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 (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

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.

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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