RIC1
Function
The RIC1-RGP1 complex acts as a guanine nucleotide exchange factor (GEF), which activates RAB6A by exchanging bound GDP for free GTP, and may thereby be required for efficient fusion of endosome-derived vesicles with the Golgi compartment (PubMed:23091056). The RIC1-RGP1 complex participates in the recycling of mannose-6-phosphate receptors (PubMed:23091056). Required for phosphorylation and localization of GJA1 (PubMed:16112082). Is a regulator of procollagen transport and secretion, and is required for correct cartilage morphogenesis and development of the craniofacial skeleton (PubMed:31932796).
Involvement in disease
CATIFA syndrome
CATIFA
An autosomal recessive disorder characterized by global developmental delay, intellectual disability, and behavioral abnormalities with mild to severe attention deficit-hyperactivity disorder. Motor, speech and cognitive deficits range from mild to severe. Patients show craniofacial dysmorphism including elongated face, short, broad upturned nose with anteverted nares and long philtrum. Additional clinical features are cleft lip/palate, tooth abnormalities, and visual impairment due to cataract, strabismus and poor visual tracking.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the RIC1 family.
Tissue Specificity
Present in kidney and various cell lines (at protein level). Widely expressed at low level.
Cellular localization
- Cytoplasm
- Cytosol
- Membrane
Alternative names
CIP150, KIAA1432, RIC1, Guanine nucleotide exchange factor subunit RIC1, Connexin-43-interacting protein of 150 kDa, Protein RIC1 homolog, RAB6A-GEF complex partner protein 1