OBSL1
Function
Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Acts as a regulator of the Cul7-RING(FBXW8) ubiquitin-protein ligase, playing a critical role in the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Required to localize CUL7 to the Golgi apparatus in neurons.
Involvement in disease
3M syndrome 2
3M2
An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Widely expressed, with predominant levels found in the heart.
Cellular localization
- Cytoplasm
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Cytoplasm
- Perinuclear region
- Golgi apparatus
- Colocalizes with CUL7 at the Golgi apparatus in neurons (PubMed:21572988).
Alternative names
KIAA0657, OBSL1, Obscurin-like protein 1