MBTPS1 membrane-bound transcription factor peptidase, site 1 [Homo sapiens (human)]
| Gene Symbol | MBTPS1 |
| Entrez Gene ID | 8720 |
| Full Name | membrane-bound transcription factor peptidase, site 1 |
| Synonyms | KIAA0091, MGC138711, MGC138712, PCSK8, S1P, SKI-1 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
16 16|16q24 |
| 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]. |
| Disorder | MIM: 603355 |
| mRNA | NM_003791, 41350325 |
| Protein | NP_003782, 4506775 |
| Product | membrane-bound transcription factor site-1 protease preproprotein |
| RefSeq Status | REVIEWED |
| hsa04141 | Protein processing in endoplasmic reticulum |
Reactome
| REACT_15380 | Diabetes pathways |
| REACT_18356 | Unfolded Protein Response |
| REACT_18348 | Activation of Chaperones by ATF6-alpha |
| Homo sapiens (human) | MBTPS1 | NP_003782.1 |
| Canis lupus familiaris (dog) | MBTPS1 | XP_546804.2 |
| Mus musculus (house mouse) | Mbtps1 | NP_062683.2 |
| Rattus norvegicus (Norway rat) | Mbtps1 | NP_446021.1 |
| Danio rerio (zebrafish) | mbtps1 | NP_954683.1 |
| Drosophila melanogaster (fruit fly) | S1P | NP_649337.2 |
| Arabidopsis thaliana (thale cress) | S1P | NP_197467.1 |
| ID | Name | Evidence |
| GO:0006508 | proteolysis | ISS |
| GO:0006629 | lipid metabolic process | ISS |
| GO:0008202 | steroid metabolic process | IEA |
| GO:0008203 | cholesterol metabolic process | IEA |
| GO:0042990 | regulation of transcription factor import into nucleus | IEA |
Component
| ID | Name | Evidence |
| GO:0000139 | Golgi membrane | TAS |
| GO:0005783 | endoplasmic reticulum | IEA |
| GO:0005788 | endoplasmic reticulum lumen | TAS |
| GO:0005789 | endoplasmic reticulum membrane | IEA |
| GO:0005794 | Golgi apparatus | ISS |
| GO:0005795 | Golgi stack | IEA |
| GO:0016020 | membrane | IEA |
| GO:0016021 | integral to membrane | IEA |
Function
| ID | Name | Evidence |
| GO:0004252 | serine-type endopeptidase activity | ISS |
| GO:0004252 | serine-type endopeptidase activity | TAS |
| GO:0008233 | peptidase activity | IEA |
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