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
Show/Hide all (21)
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
Show/Hide all (10)
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Gene SNPs Other IDs Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (16)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Likely benign; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FATTY LIVER — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (329)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abetalipoproteinemia Abetalipoproteinemia BEFREE 27666673, 30926484
★★★★★
★☆☆☆☆
Found in Text Mining only
Acid cholesteryl ester hydrolase deficiency, type 2 Wolman disease BEFREE 30286343
★★★★★
★☆☆☆☆
Found in Text Mining only
Acne Acne BEFREE 31498706
★★★★★
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 31498706
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 28177908, 29468456
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 16123993, 28090653
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 28686973, 29593801
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 28443209
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 12901792, 28002874
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 28002874
★★★★★
★☆☆☆☆
Found in Text Mining only