Entrez gene ID | | 8720 |
Official gene symbol | | MBTPS1 |
Full name | | membrane-bound transcription factor peptidase, site 1 |
Aliases | | ,KIAA0091,MGC138711,MGC138712,PCSK8,S1P,SKI-1, |
Gene summary | | The encoded protein has a central role in the regulation of lipid metabolism in cells. It is a sterol-regulated subtilisin-like serine protease that cleaves ER membrane-bound sterol regulatory element-binding proteins (SREBPs), a reaction that initiates the two-step proteolytic process by which transcriptionally active fragments of SREBPs are released from the membrane for translocation to the nucleus. The gene product is an integral membrane ER protein, with the bulk located in the ER lumen. It is synthesized as an inactive preproprotein that is self-activated by an intramolecular cleavage that generates the mature protein. [provided by RefSeq] |
Location | | Chromosome: 16 Locus: 16|16q24 |
Gene position | | 84150517 - 84087368 Map Viewer |
Gene orientation | | minus |
Gene size | | 63150 bp |
Gene sequence |
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OMIM ID | | 603355 |
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