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

Gene ID: 2875, updated on 14-Nov-2024

Summary

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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
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Genomic context

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See GPT in Genome Data Viewer
Location:
8q24.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144503068..144507172)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145672833..145676937)
RS_2024_09 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. A large population histology study showing the lack of association between ALT elevation and significant fibrosis in chronic hepatitis B. Seto WK, et al. PLoS One, 2012. PMID 22389715, Free PMC Article
  2. A better parameter in predicting insulin resistance: obesity plus elevated alanine aminotransferase. Chen PH, et al. World J Gastroenterol, 2009 Nov 28. PMID 19938201, Free PMC Article
  3. Usefulness of GPT for diagnosis of metabolic syndrome in obese Japanese children. Abe Y, et al. J Atheroscler Thromb, 2009. PMID 20032584
  4. Relationship between serum HBV DNA level and liver histology in HBV carriers with normal ALT in Guilan province, Iran. Mansour-Ghanaei F, et al. Med Sci Monit, 2010 Mar. PMID 20190678
  5. [Relations between ALT level and count of HBV special CTL and non-specific CTL in patients with chronic hepatitis B]. Gu XB, et al. Zhonghua Shi Yan He Lin Chuang Bing Du Xue Za Zhi, 2009 Oct. PMID 20387481

See all (156) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Role of alanine aminotransferase in the effects of urinary caffeine concentration and its primary metabolite concentration on cognitive function in older adults: Bayesian Kernel Machine regression analysis and mediation analysis.
    Title: Role of alanine aminotransferase in the effects of urinary caffeine concentration and its primary metabolite concentration on cognitive function in older adults: Bayesian Kernel Machine regression analysis and mediation analysis.
  2. Sex Differences in the Association Between AST/ALT and Incidence of Type 2 Diabetes in Japanese Patients with Nonalcoholic Fatty Liver Disease: A Retrospective Cohort Study.
    Title: Sex Differences in the Association Between AST/ALT and Incidence of Type 2 Diabetes in Japanese Patients with Nonalcoholic Fatty Liver Disease: A Retrospective Cohort Study.
  3. The correlation between serum total bile acid and alanine aminotransferase of pregnant women and the disorders of neonatal hyperbilirubinemia-related amino acid metabolism.
    Title: The correlation between serum total bile acid and alanine aminotransferase of pregnant women and the disorders of neonatal hyperbilirubinemia-related amino acid metabolism.
  4. Alanine aminotransferase to high- density lipoprotein cholesterol ratio is positively correlated with the occurrence of diabetes in the Chinese population: a population-based cohort study.
    Title: Alanine aminotransferase to high- density lipoprotein cholesterol ratio is positively correlated with the occurrence of diabetes in the Chinese population: a population-based cohort study.
  5. Prevalence and metabolic determinants of abnormal alanine aminotransferase: A cross-sectional study of Iranian adults, 2018-2022.
    Title: Prevalence and metabolic determinants of abnormal alanine aminotransferase: A cross-sectional study of Iranian adults, 2018-2022.
  6. Genetic and Environmental Influences on Serum Alanine Aminotransferase Level: A Chinese Twin Study.
    Title: Genetic and Environmental Influences on Serum Alanine Aminotransferase Level: A Chinese Twin Study.
  7. Fasting plasma glucose and alanine aminotransferase on the risk of hepatocellular carcinoma: A nested case-control study.
    Title: Fasting plasma glucose and alanine aminotransferase on the risk of hepatocellular carcinoma: A nested case-control study.
  8. Identification of alanine aminotransferase 1 interaction network via iTRAQ-based proteomics in alternating migration, invasion, proliferation and apoptosis of HepG2 cells.
    Title: Identification of alanine aminotransferase 1 interaction network via iTRAQ-based proteomics in alternating migration, invasion, proliferation and apoptosis of HepG2 cells.
  9. Aspartate aminotransferase to alanine aminotransferase ratio and the risk of diabetic nephropathy progression in patients with type 2 diabetes mellitus: A biopsy-based study.
    Title: Aspartate aminotransferase to alanine aminotransferase ratio and the risk of diabetic nephropathy progression in patients with type 2 diabetes mellitus: A biopsy-based study.
  10. Nonalcoholic fatty liver disease is a risk factor for glucose intolerance onset in men regardless of alanine aminotransferase status.
    Title: Nonalcoholic fatty liver disease is a risk factor for glucose intolerance onset in men regardless of alanine aminotransferase status.
Submit: New GeneRIF Correction See all GeneRIFs (131)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 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

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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_001382664.1 → NP_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:17 → 496
    PTZ00377; alanine aminotransferase; Provisional

  2. NM_001382665.1 → NP_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:17 → 496
    PTZ00377; alanine aminotransferase; Provisional

  3. NM_005309.3 → NP_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:17 → 496
    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_2024_08

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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P24298.3 GenPept UniProtKB/Swiss-Prot:P24298

Gene LinkOut

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