TRAK1

TRAK1 (Trafficking Kinesin Protein 1) is a Protein Coding gene. Among its related pathways are Oncogenic MAPK signaling and HIV Life Cycle. Gene Ontology (GO) annotations related to TRAK1 include GABA receptor binding. An important paralog of TRAK1 is TRAK2.

Full Name

Trafficking Kinesin Protein 1

Function

Involved in the regulation of endosome-to-lysosome trafficking, including endocytic trafficking of EGF-EGFR complexes and GABA-A receptors (PubMed:18675823).
Involved in mitochondrial motility. When O-glycosylated, abolishes mitochondrial motility. Crucial for recruiting OGT to the mitochondrial surface of neuronal processes (PubMed:24995978).
TRAK1 and RHOT form an essential protein complex that links KIF5 to mitochondria for light chain-independent, anterograde transport of mitochondria (By similarity).

Biological Process

Biological Process anterograde axonal transport of mitochondrion Source:GO_Central1 Publication
Biological Process endosome to lysosome transport Source:UniProtKB1 Publication
Biological Process mitochondrion distribution Source:GO_Central1 Publication
Biological Process neurogenesis Source:GO_Central1 Publication
Biological Process protein O-linked glycosylation Source:UniProtKB
Biological Process protein targeting Source:UniProtKB
Biological Process regulation of transcription by RNA polymerase II Source:UniProtKB
Biological Process vesicle transport along microtubule Source:GO_Central1 Publication

Cellular Location

Cytoplasm
Nucleus
Mitochondrion
Early endosome
Endosome
Mitochondrion membrane
Cytoplasm, cell cortex
Predominantly associated with early endosome. The localization to early endosomes depends on its interaction with HGS/HRS (PubMed:18675823).
Colocalizes with MGARP at the mitochondria (PubMed:19528298).

Involvement in disease

Developmental and epileptic encephalopathy 68 (DEE68):
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE68 is an autosomal recessive form characterized by onset of twitching and/or myoclonic jerks in infancy. The disorder progresses to refractory generalized tonic-clonic seizures, often resulting in status epilepticus, loss of developmental milestones, and early death. Other features include delayed development, axial hypotonia, spasticity of the limbs, and clonus.

PTM

O-glycosylated (PubMed:24995978, PubMed:12435728).
Glycosylated by OGT; glycosylation in response to increased extracellular glucose levels is required for and leads to regulation of mitochondrial motility by OGT (PubMed:24995978).