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MBTPS1

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]
Full Name
membrane-bound transcription factor peptidase, site 1
Function
Serine protease that cleaves after hydrophobic or small residues, provided that Arg or Lys is in position P4: known substrates are SREBF1/SREBP1, SREBF2/SREBP2, BDNF, GNPTAB, ATF6 and ATF6B (PubMed:10644685, PubMed:12782636, PubMed:21719679).

Cleaves substrates after Arg-Ser-Val-Leu (SREBP2), Arg-His-Leu-Leu (ATF6), Arg-Gly-Leu-Thr (BDNF) and its own propeptide after Arg-Arg-Leu-Leu (PubMed:10644685, PubMed:21719679).

Catalyzes the first step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:12782636).

Also mediates the first step in the proteolytic activation of the cyclic AMP-dependent transcription factor ATF-6 (ATF6 and ATF6B) (PubMed:12782636).

Mediates the protein cleavage of GNPTAB into subunit alpha and beta, thereby participating in biogenesis of lysosomes (PubMed:21719679).

Involved in the regulation of M6P-dependent Golgi-to-lysosome trafficking of lysosomal enzymes (PubMed:21719679, PubMed:30046013).

It is required for the activation of CREB3L2/BBF2H7, a transcriptional activator of MIA3/TANGO and other genes controlling mega vesicle formation (PubMed:30046013).

Therefore, it plays a key role in the regulation of mega vesicle-mediated collagen trafficking (PubMed:30046013).
Biological Process
ATF6-mediated unfolded protein response Source: ParkinsonsUK-UCL
Cholesterol metabolic process Source: UniProtKB-KW
Endoplasmic reticulum unfolded protein response Source: Reactome
Lysosome organization Source: UniProtKB
Membrane protein intracellular domain proteolysis Source: ParkinsonsUK-UCL
Proteolysis Source: UniProtKB
Regulation of cholesterol biosynthetic process Source: Reactome
Regulation of vesicle-mediated transport Source: UniProtKB
Response to endoplasmic reticulum stress Source: ParkinsonsUK-UCL
Cellular Location
Golgi apparatus
Golgi apparatus membrane
Endoplasmic reticulum
Endoplasmic reticulum membrane
Note: May sort to other organelles, including lysosomal and/or endosomal compartments.
Involvement in disease
Spondyloepiphyseal dysplasia, Kondo-Fu type (SEDKF):
A disorder characterized by severely retarded growth, spondyloepiphyseal dysplasia, reduced bone mineral density, and markedly elevated plasma levels of various lysosomal enzymes. Additional features include pectus carinatum, kyphosis, a waddling gait, brachydactyly and dysmorphic facial features. SEDKF transmission pattern is consistent with autosomal recessive inheritance.
Topology
Lumenal: 187-998
Helical: 999-1021
Cytoplasmic: 1022-1052
PTM
The 148 kDa zymogen is processed progressively into two membrane-bound 120 and 106 kDa forms in the endoplasmic reticulum, and late into a secreted 98 kDa form (PubMed:10644685). The propeptide is autocatalytically removed through an intramolecular cleavage after Leu-186. Further cleavage generates 14, 10, and 8 kDa intermediates (PubMed:10644685).

Anti-MBTPS1 antibodies

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Target: MBTPS1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBFYM-1842
Application*: E, IF
Target: MBTPS1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBFYM-0597
Application*: E
Target: MBTPS1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 2E6
Application*: IF, E
More Infomation
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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