ARCN1
Function
Component of the coatomer, 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. The 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 (By similarity).
Involvement in disease
Short stature-micrognathia syndrome
SSMG
An autosomal dominant disorder characterized by facial dysmorphism, severe micrognathia, microcephaly, rhizomelic short stature, and mild developmental delay.
None
The disease is caused by variants affecting the gene represented in this entry. the skeletal phenotype, that characterizes this disorder, may be due to defective type I collagen transport and reduction of collagen secretion.
Sequence Similarities
Belongs to the adaptor complexes medium subunit family. Delta-COP subfamily.
Tissue Specificity
Ubiquitously expressed.
Cellular localization
- Cytoplasm
- 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.
Alternative names
COPD, ARCN1, Coatomer subunit delta, Archain, Delta-coat protein, Delta-COP