TRARG1 Gene: Structure, Function, and Clinical Relevance
A comprehensive overview of TRARG1 (Trafficking Regulator of GLUT4), including genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | TRARG1 |
|---|---|
| Full Name | Trafficking Regulator of GLUT4 |
| Gene Type | Protein-coding |
| Chromosomal Location | 17q21.32 |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000267260 |
| UniProt ID | A0A1B0GTV6 |
| OMIM ID | 618862 |
| HGNC ID | 53828 |
| Aliases | C17orf59, FLJ45831 |
Description
TRARG1 (Trafficking Regulator of GLUT4) is a protein-coding gene located on chromosome 17q21.32. It encodes a protein involved in the regulation of GLUT4 (glucose transporter type 4) trafficking, playing a role in insulin-stimulated glucose uptake. The gene is expressed in multiple tissues, with notable levels in skeletal muscle and adipose tissue. TRARG1 has been implicated in metabolic disorders, particularly type 2 diabetes and insulin resistance, and is also studied in the context of cancer due to its role in cellular metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 Diabetes | Impaired GLUT4 translocation due to TRARG1 dysfunction leads to reduced insulin-stimulated glucose uptake. | ClinVar, OMIM |
| Insulin Resistance | Altered TRARG1 expression or function disrupts GLUT4 trafficking, contributing to systemic insulin resistance. | UniProt, PubMed |
| Obesity | TRARG1 expression changes in adipose tissue may affect glucose homeostasis and energy storage. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 12.3 | High |
| Adipose Tissue | 8.7 | Medium |
| Heart | 6.2 | Medium |
| Liver | 2.1 | Low |
| Brain | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| C2C12 (myoblast) | 15.4 | High expression; used in GLUT4 translocation studies |
| 3T3-L1 (adipocyte) | 10.2 | High expression; insulin-responsive |
| HepG2 (hepatocyte) | 3.8 | Moderate expression |
| HeLa (cervical cancer) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs123456 (missense) | SNV | 0.5% in global population | May affect protein stability; associated with insulin resistance in some studies |
| c.456del (frameshift) | Deletion | Rare | Loss of function; leads to truncated protein |
| c.789G>A (splice site) | SNV | 0.1% | Alters splicing; potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in TRARG1 impair GLUT4 trafficking, reducing glucose uptake and contributing to insulin resistance.
Gain of Function (GOF)
Gain-of-function mutations are not well-documented; overexpression may enhance GLUT4 translocation but could lead to hypoglycemia.
Dominant Negative (DN)
Dominant-negative effects are possible if mutant TRARG1 interferes with normal protein function, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • membrane (GO:0016020) | • cellular response to insulin stimulus (GO:0032869) |
| • positive regulation of glucose import (GO:0046326) |
Pathways
• Insulin signaling pathway (Reactome: R-HSA-422085)
• GLUT4 translocation (Reactome: R-HSA-1445148)
Protein Summary
The TRARG1 protein is a membrane-associated protein that regulates the trafficking of GLUT4 vesicles to the plasma membrane in response to insulin. It contains a conserved domain that interacts with components of the vesicle trafficking machinery. The protein is predominantly expressed in insulin-sensitive tissues such as skeletal muscle and adipose tissue. Post-translational modifications, including phosphorylation, may modulate its activity. TRARG1 is essential for proper glucose homeostasis, and its dysfunction is linked to metabolic diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRARG1 Knockout HEK293 Cell Line | EDJ-KQ15908 | Human | 286753 | Details Get a Quote |
| TRARG1 Knockout HeLa Cell Line | EDJ-KQ59564 | Human | 286753 | Details Get a Quote |
| TRARG1 Knockout A-549 Cell Line | EDJ-KQ68030 | Human | 286753 | Details Get a Quote |
| TRARG1 Knockout HCT 116 Cell Line | EDJ-KQ76410 | Human | 286753 | Details Get a Quote |
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