GPT (glutamic--pyruvic transaminase)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 2875
Gene name Glutamic--pyruvic transaminase
Gene symbol GPT
Synonyms (NCBI Gene)
AAT1ALTALT1GPT1SGPT
Chromosome 8
Chromosome location 8q24.3
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, play
miRNA miRNA information provided by mirtarbase database.
21
Gene SNPs Other IDs Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT1032467 hsa-miR-3065-3p CLIP-seq
MIRT1032468 hsa-miR-455-3p CLIP-seq
MIRT1032469 hsa-miR-4685-5p CLIP-seq
MIRT1032470 hsa-miR-551a CLIP-seq
MIRT1032471 hsa-miR-551b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
Gene SNPs Other IDs Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004021 Function L-alanine:2-oxoglutarate aminotransferase activity IEA
GO:0004021 Function L-alanine:2-oxoglutarate aminotransferase activity NAS 1931970
GO:0005615 Component Extracellular space IEA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
138200 4552 ENSG00000167701
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P24298
Protein name Alanine aminotransferase 1 (ALT1) (EC 2.6.1.2) (Glutamate pyruvate transaminase 1) (GPT 1) (Glutamic--alanine transaminase 1) (Glutamic--pyruvic transaminase 1)
Protein function Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate. Participates in cellular nitrogen metabolism and also in liver gluconeogenesis starting with precursors transported from skeletal muscles
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00155 Aminotran_1_2 83 → 484 Aminotransferase class I and II Domain
Tissue specificity TISSUE SPECIFICITY: Liver, kidney, heart, and skeletal muscles. Expressed at moderate levels in the adipose tissue. {ECO:0000269|PubMed:11863375}.
Sequence
Sequence length 496
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
19
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (10)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign; Benign rs139849083, rs141505249 RCV005902717
RCV005905948
Gastric cancer Benign; Likely benign rs141505249 RCV005905949
GPT POLYMORPHISM Benign rs1063739 RCV000017468
Malignant tumor of esophagus Likely benign rs139849083 RCV005902716
Show/Hide Text Mining Associations (91)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 9787188
Acquired Immunodeficiency Syndrome Associate 32532356
Acute On Chronic Liver Failure Stimulate 34551597
Adrenal Hyperplasia Congenital Associate 19352053
Alcoholism Associate 37883219
Anodontia Associate 31725351
Arthritis Rheumatoid Associate 34521259
Asthma Associate 38128411
Calcinosis Associate 39862807
Carcinoma Hepatocellular Associate 24143196, 35762276, 36107005, 37904480