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TRAK1

Chr 3p22.1

trafficking kinesin protein 1

Aliases:
OIP106, KIAA1042, MILT1
MANE:
ENST00000327628.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Mitochondrial disorders

Disease associations (Open Targets)

  • genetic developmental and epileptic encephalopathy

    0.61
  • cancer

    0.54
  • hereditary disease

    0.42
  • undetermined early-onset epileptic encephalopathy

    0.39
  • heart failure

    0.29
  • bipolar disorder

    0.26
  • Abnormality of the skeletal system

    0.26
  • head and neck cancer

    0.24
  • smoking initiation

    0.15
  • stroke disorder

    0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Trafficking kinesin-binding protein 1

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)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.