TRAK1 Gene
Trafficking Kinesin Protein 1: A Key Regulator of Mitochondrial Transport and Neuronal Function
Gene Information Card
| Symbol | TRAK1 |
|---|---|
| Full Name | Trafficking Kinesin Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p22.1 |
| NCBI Gene ID | 22906 ncbi.nlm.nih.gov/gene/22906 |
| Ensembl ID | ENSG00000182621 |
| UniProt ID | Q9UPV9 |
| OMIM ID | 608112 |
| HGNC ID | 29967 |
| Aliases | OIP106, O-linked N-acetylglucosamine (O-GlcNAc) transferase (OGT) interacting protein 106, GRIF-1, GABA(A) receptor interacting factor-1 |
Description
TRAK1 encodes a trafficking kinesin protein that links mitochondria to microtubule motors, facilitating mitochondrial transport along axons and dendrites. It interacts with kinesin-1 and dynein/dynactin complexes, and is essential for neuronal development and synaptic function. Mutations in TRAK1 are associated with neurodevelopmental disorders and epilepsy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with epilepsy and brain abnormalities | Impaired mitochondrial transport due to loss-of-function mutations leads to neuronal energy deficits and synaptic dysfunction | ClinVar, OMIM |
| Epileptic encephalopathy, early infantile | Disrupted mitochondrial distribution in neurons affects synaptic transmission and seizure susceptibility | ClinVar, OMIM |
| Intellectual disability | Reduced mitochondrial motility compromises dendritic spine formation and cognitive function | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Heart | 4.2 | Medium |
| Skeletal Muscle | 3.8 | Medium |
| Liver | 1.1 | Low |
| Kidney | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | High expression; used in neuronal studies |
| HeLa (cervical carcinoma) | 6.5 | Moderate expression |
| HEK293 (embryonic kidney) | 4.0 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.1522G>A (p.Gly508Arg) | Missense | Rare | Impaired kinesin binding; reduced mitochondrial transport |
| c.1970_1971del (p.Leu657Profs*12) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent TRAK1 protein, disrupting mitochondrial transport and causing neurodevelopmental phenotypes.
Gain of Function (GOF)
No gain-of-function mutations have been reported for TRAK1.
Dominant Negative (DN)
Missense mutations such as p.Gly508Arg may act in a dominant-negative manner by interfering with wild-type TRAK1 function in kinesin binding.
View complete mutation data：
Gene Ontology (GO)
Pathways
• KEGG hsa05016: Huntington disease (mitochondrial transport)
• Reactome R-HSA-983189: Kinesins
• Reactome R-HSA-5620912: Anchoring of the basal body to the plasma membrane
Protein Summary
TRAK1 is a 953-amino acid protein that functions as an adaptor linking mitochondria to microtubule-based motor proteins. It contains a conserved N-terminal domain that binds kinesin light chain and a C-terminal region that interacts with mitochondrial Rho GTPase (Miro). Through these interactions, TRAK1 mediates bidirectional mitochondrial transport along microtubules. The protein is highly expressed in the brain, where it is critical for neuronal development, synaptic plasticity, and energy distribution. Post-translational modifications, including O-GlcNAcylation, regulate its stability and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRAK1 Knockout HEK293 Cell Line | EDJ-KQ7741 | Human | 22906 | Details Get a Quote |
| TRAK1 Knockout A-549 Cell Line | EDJ-KQ33170 | Human | 22906 | Details Get a Quote |
| TRAK1 Knockout HCT 116 Cell Line | EDJ-KQ33171 | Human | 22906 | Details Get a Quote |
| TRAK1 Knockout HeLa Cell Line | EDJ-KQ33172 | Human | 22906 | Details Get a Quote |
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