| membrane-bound transcription factor peptidase, site 2 | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | MBTPS2 | ||||||
| Alt. symbols | S2P | ||||||
| NCBI gene | 51360 | ||||||
| HGNC | 15455 | ||||||
| OMIM | 300294 | ||||||
| RefSeq | NM_015884 | ||||||
| UniProt | O43462 | ||||||
| Other data | |||||||
| EC number | 3.4.24.85 | ||||||
| Locus | Chr. X p22.1-p22.2 | ||||||
| |||||||
| S2P endopeptidase | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| EC no. | 3.4.24.85 | ||||||||
| CAS no. | 752251-31-3 | ||||||||
| Databases | |||||||||
| IntEnz | IntEnz view | ||||||||
| BRENDA | BRENDA entry | ||||||||
| ExPASy | NiceZyme view | ||||||||
| KEGG | KEGG entry | ||||||||
| MetaCyc | metabolic pathway | ||||||||
| PRIAM | profile | ||||||||
| PDB structures | RCSB PDB PDBe PDBsum | ||||||||
| |||||||||
Membrane-bound transcription factor site-2 protease, also known as S2P endopeptidase or site-2 protease (S2P), is an enzyme (EC 3.4.24.85) encoded by the MBTPS2 gene which liberates the N-terminal fragment of sterol regulatory element-binding protein (SREBP) transcription factors from membranes.[1][2] S2P cleaves the transmembrane domain of SREPB, making it a member of the class of intramembrane proteases.[3]
S2P catalyses the following chemical reaction
- Cleaves several transcription factors that are type-2 transmembrane proteins within membrane-spanning domains. Known substrates include sterol regulatory element-binding protein (SREBP)-1, SREBP-2 and forms of the transcriptional activator ATF6.
This enzyme belongs to the peptidase family M50.
Function
This gene encodes an intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009].
See also
References
- ↑ Brown MS, Goldstein JL (September 1999). "A proteolytic pathway that controls the cholesterol content of membranes, cells, and blood". Proceedings of the National Academy of Sciences of the United States of America. 96 (20): 11041–8. Bibcode:1999PNAS...9611041B. doi:10.1073/pnas.96.20.11041. PMC 34238. PMID 10500120.
- ↑ Rawson RB, Zelenski NG, Nijhawan D, Ye J, Sakai J, Hasan MT, et al. (December 1997). "Complementation cloning of S2P, a gene encoding a putative metalloprotease required for intramembrane cleavage of SREBPs". Molecular Cell. 1 (1): 47–57. doi:10.1016/S1097-2765(00)80006-4. PMID 9659902.
- ↑ Brown MS, Ye J, Rawson RB, Goldstein JL (February 2000). "Regulated intramembrane proteolysis: a control mechanism conserved from bacteria to humans". Cell. 100 (4): 391–8. doi:10.1016/S0092-8674(00)80675-3. PMID 10693756.
External links
- SREBP+site+2+protease at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- S2P+endopeptidase at the U.S. National Library of Medicine Medical Subject Headings (MeSH)