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

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: mouse all
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Genomic context

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-alanine:2-oxoglutarate aminotransferase activity	IBA Inferred from Biological aspect of Ancestor more info
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 more info	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

EC 2.6.1.2

NP_001369594.1

EC 2.6.1.2

NP_005300.1

EC 2.6.1.2

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

NG_015828.1 RefSeqGene

Range

5059..8091

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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