MBTPS1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0007040Biological processlysosome organization
GO_0031293Biological processmembrane protein intracellular domain proteolysis
GO_0034976Biological processresponse to endoplasmic reticulum stress
GO_0008203Biological processcholesterol metabolic process
GO_0060627Biological processregulation of vesicle-mediated transport
GO_0036500Biological processATF6-mediated unfolded protein response
GO_0016485Biological processprotein processing
GO_0007095Biological processmitotic G2 DNA damage checkpoint signaling
GO_0030968Biological processendoplasmic reticulum unfolded protein response
GO_0006508Biological processproteolysis
GO_0045540Biological processregulation of cholesterol biosynthetic process
GO_0051604Biological processprotein maturation
GO_0005795Cellular componentGolgi stack
GO_0005789Cellular componentendoplasmic reticulum membrane
GO_0005794Cellular componentGolgi apparatus
GO_0000139Cellular componentGolgi membrane
GO_0005788Cellular componentendoplasmic reticulum lumen
GO_0005515Molecular functionprotein binding
GO_0004252Molecular functionserine-type endopeptidase activity

IV. Literature review

[source]
Gene nameMBTPS1
Protein nameMembrane-bound transcription factor site-1 protease (EC 3.4.21.112) (Endopeptidase S1P) (Subtilisin/kexin-isozyme 1) (SKI-1)
Alternative protein MBTPS1
Membrane bound transcription factor peptidase, site 1
SynonymsS1P
SKI1
KIAA0091
DescriptionFUNCTION: Serine protease that cleaves after hydrophobic or small residues, provided that Arg or Lys is in position P4: known substrates include SREBF1/SREBP1, SREBF2/SREBP2, BDNF, GNPTAB, ATF6, ATF6B and FAM20C . 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 . Catalyzes the first step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2 . Also mediates the first step in the proteolytic activation of the cyclic AMP-dependent transcription factor ATF-6 (ATF6 and ATF6B) . Mediates the protein cleavage of GNPTAB into subunit alpha and beta, thereby participating in biogenesis of lysosomes . Cleaves the propeptide from FAM20C which is required for FAM20C secretion from the Golgi apparatus membrane and for enhancement of FAM20C kinase activity, promoting osteoblast differentiation and biomineralization . Involved in the regulation of M6P-dependent Golgi-to-lysosome trafficking of lysosomal enzymes . It is required for the activation of CREB3L2/BBF2H7, a transcriptional activator of MIA3/TANGO and other genes controlling mega vesicle formation . Therefore, it plays a key role in the regulation of mega vesicle-mediated collagen trafficking . In astrocytes and osteoblasts, upon DNA damage and ER stress, mediates the first step of the regulated intramembrane proteolytic activation of the transcription factor CREB3L1, leading to the inhibition of cell-cycle progression . .

AccessionsENST00000563231.5
H3BV53
L8E7W9
H3BS61
ENST00000562788.2
ENST00000692460.1
H3BU75
A0A087WXJ6
Q14703
A0A8I5KPA5
ENST00000569907.5
ENST00000343411.8
ENST00000570012.1