| Gene Symbol |
MBTPS1
|
| Entrez Gene |
8720
|
| Alt Symbol |
PCSK8, S1P, SKI-1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
membrane-bound transcription factor peptidase, site 1
|
| Other Description |
endopeptidase S1P|membrane-bound transcription factor site-1 protease|proprotein convertase subtilisin/kexin type 8|site-1 protease|subtilisin/kexin isozyme-1
|
| Swissprots |
Q14703 Q24JQ2 Q9UF67 A8K6V8
|
| Accessions |
CCQ43234 EAW95505 EAW95506 Q14703 AK054744 AK091212 BAG52308 AK291773 BAF84462 AK299067 BAG61133 AL133583 CAB63727 AL701753 BC026330 BC114555 AAI14556 BC114961 AAI14962 BM048055 BM680126 BP364386 BX472644 D42053 BAA07653 NM_003791 NP_003782 NM_201268
|
| Function |
Serine protease that catalyzes the first step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs). Other known substrates are BDNF, GNPTAB and ATF6. Cleaves after hydrophobic or small residues, provided that Arg or Lys is in position P4. Cleaves known substrates after Arg- Ser-Val-Leu (SERBP-2), Arg-His-Leu-Leu (ATF6), Arg-Gly-Leu-Thr (BDNF) and its own propeptide after Arg-Arg-Leu-Leu. Mediates the protein cleavage of GNPTAB into subunit alpha and beta, thereby participating in biogenesis of lysosomes. {ECO:0000269|PubMed:21719679}.
|
| Subcellular Location |
Endoplasmic reticulum membrane {ECO:0000269|PubMed:9990022}; Single-pass type I membrane protein {ECO:0000269|PubMed:9990022}. Golgi apparatus membrane {ECO:0000269|PubMed:9990022}; Single-pass type I membrane protein {ECO:0000269|PubMed:9990022}. Note=May sort to other organelles, including lysosomal and/or endosomal compartments.
|
| Tissue Specificity |
Widely expressed.
|
| Top Pathways |
Protein processing in endoplasmic reticulum
|