CCDC47
Description
The CCDC47 (coiled-coil domain containing 47) is a protein-coding gene located on chromosome 17.
CCDC47 is a gene located on human chromosome 17, specifically at locus 17q23.3, that encodes the protein CCDC47. The gene has several aliases, including GK001 and MSTP041. The protein contains coiled-coil domains, the SEEEED superfamily, a domain of unknown function (DUF1682), and a transmembrane domain. While the function of the protein is not fully understood, it is proposed to play a role in calcium ion homeostasis and the endoplasmic reticulum overload response. The CCDC47 gene is located on the minus strand of human chromosome 17, contains 13 exon splice sites and 14 introns, and is 3445 base pairs in length after exon removal. No evidence for micro RNA or pseudogenes has been found. The gene has only one transcript variant, 1X. The protein encoded by CCDC47 is 483 amino acids in length, has both a signal peptide and transmembrane domain, and is rich in negatively charged amino acids, giving it an acidic isoelectric point of 4.56.
CCDC47 is a component of the multi-pass translocon (MPT) complex, which mediates the insertion of multi-pass membrane proteins into the lipid bilayer of membranes. The MPT complex takes over from the SEC61 complex, occluding its lateral gate to facilitate the insertion of subsequent transmembrane regions. Within the MPT complex, the PAT subcomplex, of which CCDC47 is a part, sequesters polar regions in the transmembrane domains until they can be buried in the fully assembled protein. CCDC47 is also involved in the regulation of calcium ion homeostasis in the endoplasmic reticulum (ER), is required for proper protein degradation through the ERAD pathway, and plays a crucial role in maintaining ER organization during embryogenesis.
CCDC47 is also known as GK001, MSTP041, THNS.
