The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC62 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq, Jul 2008]
Function:
SEC63 and SEC62 proteins are found to be associated with the ribosome-free SEC61 complex, which is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. Mutations in SEC63 cause autosomal dominant polycystic liver disease.
Subcellular Location:
Endoplasmic reticulum membrane; Multi pass membrane protein.
DISEASE:
The disease is caused by mutations affecting the gene represented in this entry.
Disease description:A hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts.
SWISS:
Q9UGP8
Gene ID:
11231
Database links:
Entrez Gene: 11231 Human
Entrez Gene: 140740 Mouse
Entrez Gene: 309858 Rat
Omim: 608648 Human
SwissProt: Q9UGP8 Human
SwissProt: Q8VHE0 Mouse
Unigene: 26904 Human
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