CCDC47
Function
Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (PubMed:32814900, PubMed:32820719, PubMed:36261522). The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions (PubMed:36261522). Within the MPT complex, the PAT subcomplex sequesters any highly polar regions in the transmembrane domains away from the non-polar membrane environment until they can be buried in the interior of the fully assembled protein (By similarity). Within the PAT subcomplex, CCDC47 occludes the lateral gate of the SEC61 complex (By similarity). Involved in the regulation of calcium ion homeostasis in the ER (PubMed:30401460). Required for proper protein degradation via the ERAD (ER-associated degradation) pathway (PubMed:25009997). Has an essential role in the maintenance of ER organization during embryogenesis (By similarity).
Involvement in disease
Trichohepatoneurodevelopmental syndrome
THNS
An autosomal recessive complex multisystem disorder characterized by woolly or coarse hair, liver dysfunction, pruritus, dysmorphic features, hypotonia, and global developmental delay.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the CCDC47 family.
Cellular localization
- Endoplasmic reticulum membrane
- Single-pass type I membrane protein
- Rough endoplasmic reticulum membrane
- Single-pass type I membrane protein
Alternative names
GK001, MSTP041, PSEC0077, CCDC47, PAT complex subunit CCDC47, Calumin, Coiled-coil domain-containing protein 47