| Gene Symbol |
MBTPS2
|
| Entrez Gene |
51360
|
| Alt Symbol |
BRESEK, IFAP, KFSD, KFSDX, OLMSX, S2P
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
membrane-bound transcription factor peptidase, site 2
|
| Other Description |
SREBPs intramembrane protease|endopeptidase S2P|keratosis follicularis spinulosa decalvans|membrane-bound transcription factor protease, site 2|membrane-bound transcription factor site-2 protease|sterol regulatory element-binding proteins intramembrane protease
|
| Swissprots |
O43462 Q9UMD3 Q9UM70
|
| Accessions |
AAD08631 AAD08632 EAW98982 O43462 AF019612 AAC51937 AK056736 AK292933 BAF85622 AK307143 AK312474 AW204540 AW664372 BC036465 BX489533 DC338559 NM_015884 NP_056968
|
| Function |
Intramembrane proteolysis of sterol-regulatory element- binding proteins (SREBPs) within the first transmembrane segment thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Site-2 cleavage comes after site-1 cleavage which takes place in the lumenal loop.
|
| Subcellular Location |
Membrane {ECO:0000305|PubMed:19361614}; Multi-pass membrane protein {ECO:0000305|PubMed:19361614}. Cytoplasm {ECO:0000269|PubMed:19361614}.
|
| Tissue Specificity |
Expressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas.
|
| Top Pathways |
Protein processing in endoplasmic reticulum
|