GOT1 (Glutamic-Oxaloacetic Transaminase 1): Gene, Function, and Clinical Significance
A comprehensive biomedical overview of the GOT1 gene, encoding cytosolic aspartate aminotransferase, including genomic data, expression, mutations, and disease associations.
Gene Information Card
| Symbol | GOT1 |
|---|---|
| Full Name | Glutamic-Oxaloacetic Transaminase 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 10q24.1-q25.1 |
| NCBI Gene ID | 2805 ncbi.nlm.nih.gov/gene/2805 |
| Ensembl ID | ENSG00000120053 |
| UniProt ID | P17174 |
| OMIM ID | 138180 |
| HGNC ID | 4432 |
| Aliases | AST1, cAST, GIG18 |
Description
GOT1 encodes the cytosolic isozyme of aspartate aminotransferase, a pyridoxal phosphate-dependent enzyme that catalyzes the reversible transfer of an amino group between aspartate and alpha-ketoglutarate to form oxaloacetate and glutamate. This enzyme plays a central role in amino acid metabolism, the malate-aspartate shuttle, and the tricarboxylic acid (TCA) cycle anaplerosis. GOT1 is ubiquitously expressed and is clinically measured as part of liver function tests (AST).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | GOT1 supports tumor growth by maintaining redox balance and providing aspartate-derived metabolites for nucleotide synthesis; altered expression is observed in pancreatic, colorectal, and breast cancers. | COSMIC; PMID: 28846096 |
| Neurodegenerative disorders | Impaired GOT1 function may affect glutamate homeostasis, contributing to excitotoxicity in conditions like amyotrophic lateral sclerosis (ALS). | UniProt; PMID: 26950371 |
| Liver disease | Elevated serum GOT1 (AST) is a biomarker for hepatocellular damage, though not a direct genetic cause. | NCBI Gene; PMID: 25921623 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | ~200 | High |
| Liver | ~150 | High |
| Skeletal Muscle | ~120 | High |
| Kidney | ~100 | Medium |
| Brain | ~80 | Medium |
| Pancreas | ~50 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | ~180 | Liver cancer cell line; high expression |
| MCF7 | ~90 | Breast cancer cell line; moderate expression |
| A549 | ~70 | Lung cancer cell line; moderate expression |
| K562 | ~40 | Leukemia cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.346C>T (p.Arg116Cys) | Missense | Rare (<0.01%) | Reduced enzymatic activity; potential impact on metabolic function |
| c.589G>A (p.Gly197Ser) | Missense | Rare (<0.01%) | Unknown; predicted benign by in silico tools |
| c.1043A>G (p.Glu348Gly) | Missense | Rare (<0.01%) | Potential loss of function; not clinically validated |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may reduce catalytic activity, but no definitive loss-of-function mutations have been characterized in human disease.
Gain of Function (GOF)
No gain-of-function mutations reported; GOT1 is not a known oncogene.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Alanine
• aspartate and glutamate metabolism (KEGG: hsa00250)
• Arginine biosynthesis (KEGG: hsa00220)
• Cysteine and methionine metabolism (KEGG: hsa00270)
• Malate-aspartate shuttle (Reactome: R-HSA-985608)
Protein Summary
GOT1 is a 413-amino acid cytosolic protein that forms homodimers and requires pyridoxal phosphate as a cofactor. It catalyzes the transamination of aspartate and alpha-ketoglutarate to oxaloacetate and glutamate. The enzyme is essential for the malate-aspartate shuttle, which transfers reducing equivalents across the mitochondrial membrane, and for providing aspartate for nucleotide biosynthesis in proliferating cells. GOT1 is widely expressed, with highest levels in heart, liver, and skeletal muscle. Its serum level is a common clinical biomarker for liver and muscle damage.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GOT1 Knockout HEK293 Cell Line | EDJ-KQ4751 | Human | 2805 | Details Get a Quote |
| GOT1L1 Knockout HEK293 Cell Line | EDJ-KQ9389 | Human | 137362 | Details Get a Quote |
| GOT1 Knockout HCT 116 Cell Line | EDJ-KQ26273 | Human | 2805 | Details Get a Quote |
| GOT1 Knockout A-549 Cell Line | EDJ-KQ27508 | Human | 2805 | Details Get a Quote |
| GOT1 Knockout HeLa Cell Line | EDJ-KQ27510 | Human | 2805 | Details Get a Quote |
| GOT1L1 Knockout HeLa Cell Line | EDJ-KQ58372 | Human | 137362 | Details Get a Quote |
| GOT1L1 Knockout A-549 Cell Line | EDJ-KQ66860 | Human | 137362 | Details Get a Quote |
| GOT1L1 Knockout HCT 116 Cell Line | EDJ-KQ75263 | Human | 137362 | Details Get a Quote |
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