Coatomer subunit beta'
Function
The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors.
This coatomer complex protein, essential for Golgi budding and vesicular trafficking, is a selective binding protein (RACK) for protein kinase C, epsilon type. It binds to Golgi membranes in a GTP-dependent manner (By similarity).
Involvement in disease
Microcephaly 19, primary, autosomal recessive
MCPH19
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH19 affected individuals manifest severe developmental delay, failure to thrive, cortical blindness, and spasticity. Brain imaging show a simplified gyral pattern, thin corpus callosum, slight ventricular dilation, and delayed myelination.
None
The disease may be caused by variants affecting the gene represented in this entry.
Osteoporosis, childhood- or juvenile-onset, with developmental delay
OPDD
An autosomal dominant disorder characterized by decreased bone mass and deterioration of bone microarchitecture, fragile bones, recurrent fractures following minor trauma, and developmental delay of variable severity.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the WD repeat COPB2 family.
Cellular localization
- Cytoplasm
- Cytosol
- Golgi apparatus membrane
- Peripheral membrane protein
- Cytoplasmic side
- Cytoplasmic vesicle
- COPI-coated vesicle membrane
- Peripheral membrane protein
- Cytoplasmic side
- The coatomer is cytoplasmic or polymerized on the cytoplasmic side of the Golgi, as well as on the vesicles/buds originating from it. Shows only a slight preference for the cis-Golgi apparatus, compared with the trans-Golgi.
Alternative names
Coatomer subunit beta', Beta'-coat protein, p102, Beta'-COP, COPB2