MBTPS1 | ENSG00000140943 | NCBI 8720

Details for: MBTPS1

Gene ID: 8720

Gene Type: Protein-coding - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: MBTPS1

Ensembl ID: ENSG00000140943

Description: membrane bound transcription factor peptidase, site 1

Cell Significance Landscape

Display Count:

Associated with

Assembly of active lpl and lipc lipase complexes
(R-HSA-8963889)
Atf6 (atf6-alpha) activates chaperones
(R-HSA-381033)
Atf6b (atf6-beta) activates chaperones
(R-HSA-8874177)
Cellular responses to stimuli
(R-HSA-8953897)
Cellular responses to stress
(R-HSA-2262752)
Creb3 factors activate genes
(R-HSA-8874211)
Metabolism
(R-HSA-1430728)
Metabolism of lipids
(R-HSA-556833)
Metabolism of proteins
(R-HSA-392499)
Metabolism of steroids
(R-HSA-8957322)
Plasma lipoprotein assembly, remodeling, and clearance
(R-HSA-174824)
Plasma lipoprotein remodeling
(R-HSA-8963899)
Post-translational protein modification
(R-HSA-597592)
Post-translational protein phosphorylation
(R-HSA-8957275)
Regulation of cholesterol biosynthesis by srebp (srebf)
(R-HSA-1655829)
Regulation of insulin-like growth factor (igf) transport and uptake by insulin-like growth factor binding proteins (igfbps)
(R-HSA-381426)
Transport of small molecules
(R-HSA-382551)
Unfolded protein response (upr)
(R-HSA-381119)
Atf6-mediated unfolded protein response
(GO:0036500)
Cholesterol metabolic process
(GO:0008203)
Endoplasmic reticulum lumen
(GO:0005788)
Endoplasmic reticulum membrane
(GO:0005789)
Endoplasmic reticulum unfolded protein response
(GO:0030968)
Golgi apparatus
(GO:0005794)
Golgi membrane
(GO:0000139)
Golgi stack
(GO:0005795)
Lysosome organization
(GO:0007040)
Membrane protein intracellular domain proteolysis
(GO:0031293)
Mitotic g2 dna damage checkpoint signaling
(GO:0007095)
Protein binding
(GO:0005515)
Protein import into nucleus
(GO:0006606)
Protein maturation
(GO:0051604)
Protein processing
(GO:0016485)
Proteolysis
(GO:0006508)
Regulation of cholesterol biosynthetic process
(GO:0045540)
Regulation of vesicle-mediated transport
(GO:0060627)
Response to endoplasmic reticulum stress
(GO:0034976)
Serine-type endopeptidase activity
(GO:0004252)

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

retinal cone cell CL0000573

CSI 21.52

rCSI 34.64%

PRS 19.12
retinal rod cell CL0000604

CSI 12.4

rCSI 21.85%

PRS 24.38
early lymphoid progenitor CL0000936

CSI 11.91

rCSI 10.46%

PRS 28.8
L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040

CSI 11.89

rCSI 28.9%

PRS 14.74
pulmonary ionocyte CL0017000

CSI 11.72

rCSI 14.27%

PRS 30.97
transit amplifying cell of colon CL0009011

CSI 10.73

rCSI 12.6%

PRS 28.57
adventitial cell CL0002503

CSI 10.07

rCSI 24.05%

PRS 36.2
helper T cell CL0000912

CSI 9.61

rCSI 13.59%

PRS 34.49
lung macrophage CL1001603

CSI 9.28

rCSI 20.72%

PRS 29.35
pvalb GABAergic cortical interneuron CL4023018

CSI 8.52

rCSI 10.6%

PRS 14.11
hematopoietic stem cell CL0000037

CSI 8.28

rCSI 5.5%

PRS 29.53
tracheal goblet cell CL1000329

CSI 7.48

rCSI 16.33%

PRS 45.75
pro-B cell CL0000826

CSI 6.87

rCSI 5.69%

PRS 25.42
interstitial cell of Cajal CL0002088

CSI 6.53

rCSI 8.31%

PRS 28.74
promonocyte CL0000559

CSI 5.89

rCSI 10.09%

PRS 33.49
eye photoreceptor cell CL0000287

CSI 5.86

rCSI 65.92%

PRS 54.02
corticothalamic-projecting glutamatergic cortical neuron CL4023013

CSI 5.84

rCSI 34.42%

PRS 15.8
central nervous system neuron CL2000029

CSI 5.56

rCSI 40.86%

PRS 15.7
S cone cell CL0003050

CSI 5.3

rCSI 23.31%

PRS 23.68
L6b glutamatergic cortical neuron CL4023038

CSI 5.22

rCSI 16.3%

PRS 15.89
cardiac muscle cell CL0000746

CSI 4.81

rCSI 6.9%

PRS 19.45
IgG plasma cell CL0000985

CSI 4.55

rCSI 5.45%

PRS 42.16
activated CD4-positive, alpha-beta T cell CL0000896

CSI 4.43

rCSI 4.1%

PRS 43.71
podocyte CL0000653

CSI 4.38

rCSI 19.47%

PRS 24.27
cerebral cortex endothelial cell CL1001602

CSI 4.15

rCSI 7.19%

PRS 19.1
neuroblast (sensu Vertebrata) CL0000031

CSI 4.11

rCSI 5.28%

PRS 23.89
effector CD4-positive, alpha-beta T cell CL0001044

CSI 4.04

rCSI 11.59%

PRS 37.37
hematopoietic multipotent progenitor cell CL0000837

CSI 3.93

rCSI 9.45%

PRS 38.93
lung pericyte CL0009089

CSI 3.57

rCSI 9.43%

PRS 29.73
epithelial cell CL0000066

CSI 3.42

rCSI 5.26%

PRS 32.42
near-projecting glutamatergic cortical neuron CL4023012

CSI 3.4

rCSI 12.87%

PRS 15.6
double negative thymocyte CL0002489

CSI 3.25

rCSI 2.26%

PRS 30.15
CD4-positive helper T cell CL0000492

CSI 3.22

rCSI 2.43%

PRS 34.1
neural crest cell CL0011012

CSI 3.21

rCSI 2.53%

PRS 17.18
fibroblast of cardiac tissue CL0002548

CSI 3.2

rCSI 15.33%

PRS 21.06
direct pathway medium spiny neuron CL4023026

CSI 2.99

rCSI 71.62%

PRS 13.76
mononuclear phagocyte CL0000113

CSI 2.96

rCSI 6.52%

PRS 28.55
indirect pathway medium spiny neuron CL4023029

CSI 2.96

rCSI 71.46%

PRS 14.67
unswitched memory B cell CL0000970

CSI 2.92

rCSI 2.46%

PRS 39.13
duct epithelial cell CL0000068

CSI 2.91

rCSI 4.26%

PRS 26.49
CD4-positive, alpha-beta memory T cell CL0000897

CSI 2.89

rCSI 2.07%

PRS 34.3
ON-bipolar cell CL0000749

CSI 2.89

rCSI 4.3%

PRS 28.85
effector memory CD8-positive, alpha-beta T cell, terminally differentiated CL0001062

CSI 2.86

rCSI 14.37%

PRS 32.95
kidney interstitial alternatively activated macrophage CL1000695

CSI 2.81

rCSI 7.32%

PRS 23.51
effector CD8-positive, alpha-beta T cell CL0001050

CSI 2.8

rCSI 2.13%

PRS 33.07
L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041

CSI 2.72

rCSI 9.78%

PRS 14.23
mesenchymal cell CL0008019

CSI 2.7

rCSI 6.85%

PRS 24.51
astrocyte of the cerebral cortex CL0002605

CSI 2.67

rCSI 5.98%

PRS 15.66
interneuron CL0000099

CSI 2.61

rCSI 5.24%

PRS 18.51
chandelier pvalb GABAergic cortical interneuron CL4023036

CSI 2.57

rCSI 8.05%

PRS 17.21
pulmonary alveolar type 1 cell CL0002062

CSI 2.55

rCSI 14.72%

PRS 30.33
enteric smooth muscle cell CL0002504

CSI 2.49

rCSI 3.56%

PRS 27.73
extravillous trophoblast CL0008036

CSI 2.49

rCSI 3.08%

PRS 22.01
common myeloid progenitor CL0000049

CSI 2.47

rCSI 2%

PRS 25.19
sst GABAergic cortical interneuron CL4023017

CSI 2.46

rCSI 3.17%

PRS 15.68
lamp5 GABAergic cortical interneuron CL4023011

CSI 2.44

rCSI 4.1%

PRS 15.03
alveolar type 1 fibroblast cell CL4028004

CSI 2.43

rCSI 2.66%

PRS 27.87
intestine goblet cell CL0019031

CSI 2.42

rCSI 2.15%

PRS 25.23
type B pancreatic cell CL0000169

CSI 2.42

rCSI 5.35%

PRS 23.05
melanocyte CL0000148

CSI 2.4

rCSI 1.77%

PRS 21.43
kidney loop of Henle thin ascending limb epithelial cell CL1001107

CSI 2.38

rCSI 6.15%

PRS 23.07
T-helper 17 cell CL0000899

CSI 2.37

rCSI 1.88%

PRS 43.53
midzonal region hepatocyte CL0019028

CSI 2.32

rCSI 5.44%

PRS 34.78
Mueller cell CL0000636

CSI 2.3

rCSI 5.24%

PRS 21.33
enteroendocrine cell CL0000164

CSI 2.26

rCSI 3.09%

PRS 27.6
VIP GABAergic cortical interneuron CL4023016

CSI 2.25

rCSI 2.69%

PRS 14.85
glandular epithelial cell CL0000150

CSI 2.24

rCSI 5.89%

PRS 46.33
plasmablast CL0000980

CSI 2.2

rCSI 1.73%

PRS 30.26
secretory cell CL0000151

CSI 2.18

rCSI 2.27%

PRS 25.56
choroid plexus epithelial cell CL0000706

CSI 2.16

rCSI 3.54%

PRS 19.26
hematopoietic precursor cell CL0008001

CSI 2.15

rCSI 2.21%

PRS 39.44
Bergmann glial cell CL0000644

CSI 2.15

rCSI 2.94%

PRS 24.36
immature B cell CL0000816

CSI 2.12

rCSI 1.58%

PRS 36.3
CD14-low, CD16-positive monocyte CL0002396

CSI 2.1

rCSI 1.62%

PRS 23.43
brush cell of tracheobronchial tree CL0002075

CSI 2.09

rCSI 6.21%

PRS 34.25
pulmonary capillary endothelial cell CL4028001

CSI 2.09

rCSI 3.98%

PRS 38.8
skin fibroblast CL0002620

CSI 2.07

rCSI 1.78%

PRS 36.53
vascular leptomeningeal cell CL4023051

CSI 2.05

rCSI 3.59%

PRS 19.25
hepatocyte CL0000182

CSI 2.01

rCSI 3.61%

PRS 23.14
renal beta-intercalated cell CL0002201

CSI 2.01

rCSI 4.79%

PRS 27.82
mature T cell CL0002419

CSI 2

rCSI 1.56%

PRS 36.62
pancreatic A cell CL0000171

CSI 1.98

rCSI 2.08%

PRS 26.51
double-positive, alpha-beta thymocyte CL0000809

CSI 1.94

rCSI 1.98%

PRS 35.35
retinal pigment epithelial cell CL0002586

CSI 1.94

rCSI 3.85%

PRS 25.83
neuron CL0000540

CSI 1.88

rCSI 5.01%

PRS 21.57
colon epithelial cell CL0011108

CSI 1.85

rCSI 1.94%

PRS 23.31
cerebral cortex GABAergic interneuron CL0010011

CSI 1.85

rCSI 5.45%

PRS 29.12
glioblast CL0000030

CSI 1.83

rCSI 2.92%

PRS 21.24
conjunctival epithelial cell CL1000432

CSI 1.8

rCSI 2.74%

PRS 25.08
bronchus fibroblast of lung CL2000093

CSI 1.78

rCSI 1.44%

PRS 26.11
chondrocyte CL0000138

CSI 1.77

rCSI 2.81%

PRS 21.01
ciliated cell CL0000064

CSI 1.77

rCSI 2.86%

PRS 25.03
multi-ciliated epithelial cell CL0005012

CSI 1.76

rCSI 1.76%

PRS 21.41
hepatic stellate cell CL0000632

CSI 1.76

rCSI 6.6%

PRS 20.96
group 3 innate lymphoid cell CL0001071

CSI 1.76

rCSI 1.32%

PRS 26.73
plasmacytoid dendritic cell, human CL0001058

CSI 1.76

rCSI 1.23%

PRS 26.6
brush cell CL0002204

CSI 1.74

rCSI 3.45%

PRS 54.69
Kupffer cell CL0000091

CSI 1.73

rCSI 3.97%

PRS 24.43
paneth cell CL0000510

CSI 1.72

rCSI 2.53%

PRS 38.44
alpha-beta T cell CL0000789

CSI 1.7

rCSI 1.99%

PRS 35.04

mesenchymal stem cell CL0000134

CSI 0.1

rCSI 0.6%

PRS 42.3%
vein endothelial cell of respiratory system CL4033008

CSI 0.1

rCSI 0.5%

PRS 46.0%
OFF midget ganglion cell CL4033047

CSI 0.2

rCSI 3.2%

PRS 21.9%
ON midget ganglion cell CL4033046

CSI 0.2

rCSI 3.4%

PRS 20.7%
regular ventricular cardiac myocyte CL0002131

CSI 0.3

rCSI 1.6%

PRS 19.7%
pancreatic PP cell CL0002275

CSI 0.3

rCSI 1.2%

PRS 40.9%
ON parasol ganglion cell CL4033052

CSI 0.3

rCSI 4.2%

PRS 19.9%
cytotoxic T cell CL0000910

CSI 0.3

rCSI 1.7%

PRS 36.3%
respiratory goblet cell CL0002370

CSI 0.3

rCSI 3.6%

PRS 45.5%
P/D1 enteroendocrine cell CL0002268

CSI 0.4

rCSI 2.2%

PRS 52.1%
amacrine cell CL0000561

CSI 0.4

rCSI 1.2%

PRS 19.5%
antibody secreting cell CL0000946

CSI 0.4

rCSI 1.9%

PRS 73.9%
retinal ganglion cell CL0000740

CSI 0.5

rCSI 1.1%

PRS 17.9%
regular atrial cardiac myocyte CL0002129

CSI 0.5

rCSI 1.6%

PRS 25.7%
microcirculation associated smooth muscle cell CL0008035

CSI 0.5

rCSI 1.5%

PRS 27.9%
tracheobronchial serous cell CL0019001

CSI 0.5

rCSI 2.2%

PRS 43.2%
L5/6 near-projecting glutamatergic neuron CL4030067

CSI 0.6

rCSI 1.9%

PRS 17.1%
bronchial goblet cell CL1000312

CSI 0.6

rCSI 2.4%

PRS 48.8%
GABAergic amacrine cell CL4030027

CSI 0.6

rCSI 2.1%

PRS 21.4%
kidney connecting tubule epithelial cell CL1000768

CSI 0.6

rCSI 1.6%

PRS 19.0%
intestinal crypt stem cell of small intestine CL0009017

CSI 0.6

rCSI 1.7%

PRS 32.2%
placental villous trophoblast CL2000060

CSI 0.6

rCSI 1.0%

PRS 23.4%
glial cell CL0000125

CSI 0.6

rCSI 2.5%

PRS 23.3%
basal cell of epidermis CL0002187

CSI 0.7

rCSI 1.2%

PRS 18.9%
tracheobronchial smooth muscle cell CL0019019

CSI 0.7

rCSI 1.2%

PRS 32.0%
deuterosomal cell CL4033044

CSI 0.7

rCSI 2.4%

PRS 37.9%
CD8-positive, CD28-negative, alpha-beta regulatory T cell CL0000920

CSI 0.7

rCSI 1.4%

PRS 40.9%
mucus secreting cell CL0000319

CSI 0.7

rCSI 1.2%

PRS 32.1%
corneal epithelial cell CL0000575

CSI 0.8

rCSI 2.2%

PRS 42.1%
retinal bipolar neuron CL0000748

CSI 0.8

rCSI 1.5%

PRS 18.2%
ciliated columnar cell of tracheobronchial tree CL0002145

CSI 0.8

rCSI 1.8%

PRS 25.5%
cerebellar granule cell CL0001031

CSI 0.8

rCSI 1.2%

PRS 23.0%
dopaminergic neuron CL0000700

CSI 0.8

rCSI 4.6%

PRS 15.1%
lymphoid lineage restricted progenitor cell CL0000838

CSI 0.9

rCSI 3.3%

PRS 40.5%
endocardial cell CL0002350

CSI 0.9

rCSI 4.1%

PRS 29.6%
mesodermal cell CL0000222

CSI 0.9

rCSI 1.1%

PRS 24.3%
pancreatic ductal cell CL0002079

CSI 0.9

rCSI 1.7%

PRS 25.7%
retina horizontal cell CL0000745

CSI 0.9

rCSI 1.4%

PRS 23.0%
respiratory suprabasal cell CL4033048

CSI 0.9

rCSI 1.2%

PRS 28.8%
lung secretory cell CL1000272

CSI 1.0

rCSI 2.4%

PRS 23.2%
acinar cell CL0000622

CSI 1.0

rCSI 1.4%

PRS 32.6%
stromal cell of ovary CL0002132

CSI 1.0

rCSI 2.7%

PRS 39.8%
stromal cell CL0000499

CSI 1.0

rCSI 2.8%

PRS 31.1%
acinar cell of salivary gland CL0002623

CSI 1.0

rCSI 24.0%

PRS 45.2%
melanocyte of skin CL1000458

CSI 1.0

rCSI 1.4%

PRS 14.0%
pancreatic acinar cell CL0002064

CSI 1.0

rCSI 1.4%

PRS 27.4%
CD8-positive, alpha-beta cytotoxic T cell CL0000794

CSI 1.1

rCSI 1.3%

PRS 42.4%
small intestine goblet cell CL1000495

CSI 1.1

rCSI 2.3%

PRS 33.0%
glutamatergic neuron CL0000679

CSI 1.1

rCSI 2.2%

PRS 23.8%
squamous epithelial cell CL0000076

CSI 1.1

rCSI 2.6%

PRS 30.5%
intestinal epithelial cell CL0002563

CSI 1.1

rCSI 1.1%

PRS 25.8%
peripheral nervous system neuron CL2000032

CSI 1.1

rCSI 1.5%

PRS 21.7%
central memory CD8-positive, alpha-beta T cell CL0000907

CSI 1.1

rCSI 0.7%

PRS 31.1%
luminal epithelial cell of mammary gland CL0002326

CSI 1.1

rCSI 2.0%

PRS 37.7%
progenitor cell CL0011026

CSI 1.1

rCSI 2.4%

PRS 35.4%
common dendritic progenitor CL0001029

CSI 1.1

rCSI 1.4%

PRS 32.3%
medium spiny neuron CL1001474

CSI 1.1

rCSI 9.7%

PRS 14.2%
centrilobular region hepatocyte CL0019029

CSI 1.1

rCSI 3.0%

PRS 36.4%
megakaryocyte-erythroid progenitor cell CL0000050

CSI 1.1

rCSI 1.0%

PRS 22.8%
pulmonary alveolar type 2 cell CL0002063

CSI 1.2

rCSI 1.8%

PRS 35.9%
nasal mucosa goblet cell CL0002480

CSI 1.2

rCSI 1.4%

PRS 35.5%
ependymal cell CL0000065

CSI 1.2

rCSI 2.4%

PRS 13.6%
cerebral cortex neuron CL0010012

CSI 1.2

rCSI 4.8%

PRS 25.3%
cardiac endothelial cell CL0010008

CSI 1.2

rCSI 4.8%

PRS 23.2%
club cell CL0000158

CSI 1.2

rCSI 1.7%

PRS 27.9%
intestinal tuft cell CL0019032

CSI 1.2

rCSI 1.8%

PRS 28.5%
class switched memory B cell CL0000972

CSI 1.2

rCSI 0.9%

PRS 40.9%
cardiac neuron CL0010022

CSI 1.2

rCSI 4.0%

PRS 20.9%
L4 intratelencephalic projecting glutamatergic neuron CL4030063

CSI 1.3

rCSI 3.0%

PRS 17.2%
CD14-positive, CD16-positive monocyte CL0002397

CSI 1.3

rCSI 1.7%

PRS 35.3%
respiratory basal cell CL0002633

CSI 1.3

rCSI 1.3%

PRS 29.5%
vascular associated smooth muscle cell CL0000359

CSI 1.3

rCSI 4.2%

PRS 29.4%
dendritic cell, human CL0001056

CSI 1.3

rCSI 2.0%

PRS 30.0%
GABAergic neuron CL0000617

CSI 1.3

rCSI 4.4%

PRS 18.0%
lung endothelial cell CL1001567

CSI 1.3

rCSI 3.1%

PRS 53.4%
effector memory CD8-positive, alpha-beta T cell CL0000913

CSI 1.3

rCSI 1.2%

PRS 37.6%
neuroblast (sensu Nematoda and Protostomia) CL0000338

CSI 1.3

rCSI 1.5%

PRS 21.6%
fallopian tube secretory epithelial cell CL4030006

CSI 1.3

rCSI 1.3%

PRS 25.9%
keratocyte CL0002363

CSI 1.3

rCSI 3.2%

PRS 35.7%
adipocyte CL0000136

CSI 1.3

rCSI 1.7%

PRS 24.0%
alveolar adventitial fibroblast CL4028006

CSI 1.3

rCSI 2.1%

PRS 25.1%
ionocyte CL0005006

CSI 1.3

rCSI 1.4%

PRS 23.0%
renal interstitial pericyte CL1001318

CSI 1.4

rCSI 3.7%

PRS 23.3%
pancreatic D cell CL0000173

CSI 1.4

rCSI 1.3%

PRS 26.7%
myeloid leukocyte CL0000766

CSI 1.4

rCSI 1.3%

PRS 26.1%
myoepithelial cell CL0000185

CSI 1.4

rCSI 3.6%

PRS 30.6%
differentiation-committed oligodendrocyte precursor CL4023059

CSI 1.4

rCSI 2.6%

PRS 21.2%
fibroblast of lung CL0002553

CSI 1.5

rCSI 1.4%

PRS 25.0%
mature B cell CL0000785

CSI 1.5

rCSI 1.3%

PRS 31.5%
stem cell CL0000034

CSI 1.5

rCSI 1.4%

PRS 18.4%
basal-myoepithelial cell of mammary gland CL0002324

CSI 1.5

rCSI 2.8%

PRS 49.6%
blood vessel endothelial cell CL0000071

CSI 1.5

rCSI 3.1%

PRS 24.7%
IgA plasma cell CL0000987

CSI 1.5

rCSI 1.5%

PRS 43.7%
lung neuroendocrine cell CL1000223

CSI 1.5

rCSI 2.2%

PRS 28.4%
ciliated epithelial cell CL0000067

CSI 1.5

rCSI 1.3%

PRS 18.3%
sncg GABAergic cortical interneuron CL4023015

CSI 1.5

rCSI 2.5%

PRS 16.4%
inhibitory interneuron CL0000498

CSI 1.5

rCSI 3.5%

PRS 20.2%
renal alpha-intercalated cell CL0005011

CSI 1.5

rCSI 2.1%

PRS 31.9%
epithelial cell of lower respiratory tract CL0002632

CSI 1.6

rCSI 1.2%

PRS 24.2%
enteroendocrine cell of small intestine CL0009006

CSI 1.6

rCSI 3.4%

PRS 37.0%

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Context Genes (max 20):

Interaction Source:

Pathway Categories (for ONTOLOGY source):

Baseline Cell Type:

Baseline Cell Context(s): Comma-separated if multiple.

Target Cell Type:

Target Cell Context(s): Comma-separated if multiple.

Legend:

Query Gene
Node Color (Target Cell CSI, relative to current network):
- Very High
- High
- Medium
- Low
- Very Low
- CSI N/A
Node Size: Proportional to Target Cell CSI magnitude
STRING PPI Edge
Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

Description
Proteins

## Summary [MBTPS1](/details-gene/8720), or Membrane-Bound Transcription Factor Peptidase, Site 1, encodes a serine protease crucial for intracellular protein processing. This enzyme, also known as Site-1 Protease (S1P), resides primarily in the Golgi apparatus and endoplasmic reticulum, where it plays a central role in two fundamental cellular pathways: the regulation of cholesterol metabolism and the response to endoplasmic reticulum stress. It achieves this by cleaving and thereby activating key membrane-tethered transcription factors, including Sterol Regulatory Element-Binding Proteins (SREBPs) and Activating Transcription Factor 6 (ATF6). **Overall**, the expression profile of [MBTPS1](/details-gene/8720) shows high significance in a diverse array of metabolically active or highly specialized cell types, including [retinal cone cell](/details-cell/CL0000573)s, [retinal rod cell](/details-cell/CL0000604)s, and various progenitor and neuronal populations, highlighting its role as a master regulator of cellular homeostasis in demanding physiological contexts. ## Cellular Roles and Expression Landscape The expression pattern of [MBTPS1](/details-gene/8720) underscores its fundamental importance across multiple biological systems. Its highest significance scores are observed in cells characterized by high metabolic activity, complex membrane structures, or significant protein synthesis and secretion. **Overall**, the gene is most significant in: * **Sensory Perception:** [MBTPS1](/details-gene/8720) shows exceptional significance in both [retinal cone cell](/details-cell/CL0000573) (CSI: 21.52) and [retinal rod cell](/details-cell/CL0000604) (CSI: 12.40). This suggests a critical role in maintaining the structural integrity and high lipid turnover of photoreceptor outer segments. * **Nervous System:** High significance in neuronal subtypes, such as [L2/3-6 intratelencephalic projecting glutamatergic neuron](/details-cell/CL4023040) and [pvalb GABAergic cortical interneuron](/details-cell/CL4023018), points to its involvement in managing protein and lipid synthesis necessary for neuronal function and maintenance. * **Hematopoiesis and Immunity:** The gene is a significant marker in progenitor cells, including [early lymphoid progenitor](/details-cell/CL0000936) and [hematopoietic stem cell](/details-cell/CL0000037), as well as mature immune cells like [helper T cell](/details-cell/CL0000912) and [lung macrophage](/details-cell/CL1001603). This is consistent with a role in supporting the high biosynthetic demands during immune cell differentiation and activation. * **Specialized Secretory and Barrier Tissues:** Its prominence in [pulmonary ionocyte](/details-cell/CL0017000), [transit amplifying cell of colon](/details-cell/CL0009011), and [tracheal goblet cell](/details-cell/CL1000329) suggests it is essential for cellular functions involving high rates of protein processing and secretion, such as mucus production and ion transport. The broad but specific expression pattern across these functionally diverse cell types indicates that [MBTPS1](/details-gene/8720) is not a simple lineage marker but rather a key enzymatic component supporting specialized cellular programs that depend on robust control of lipid metabolism and the unfolded protein response. ## Pathways and Molecular Function [MBTPS1](/details-gene/8720) is a serine-type endopeptidase ([GO:0004252](https://www.ebi.ac.uk/QuickGO/term/GO:0004252)) localized to the [Golgi membrane](/details-cell/GO0000139) and [endoplasmic reticulum membrane](/details-cell/GO0005789). Its primary function is to perform regulated intramembrane proteolysis, a critical step in activating signaling pathways that originate from cellular membranes. Key functions and pathways include: * **Cholesterol Homeostasis:** [MBTPS1](/details-gene/8720) is a central enzyme in the [Regulation of cholesterol biosynthesis by SREBP (SREBF)](https://reactome.org/content/detail/R-HSA-1655829) pathway. When cellular cholesterol levels are low, it cleaves SREBP transcription factors, releasing their N-terminal domains to travel to the nucleus and activate genes involved in cholesterol and fatty acid synthesis ([GO:0008203](https://www.ebi.ac.uk/QuickGO/term/GO:0008203)). * **Unfolded Protein Response (UPR):** The gene is a critical component of the [Unfolded protein response (UPR)](https://reactome.org/content/detail/R-HSA-381119). During ER stress, [MBTPS1](/details-gene/8720) cleaves the membrane-bound transcription factor ATF6, initiating a signaling cascade ([R-HSA-381033](https://reactome.org/content/detail/R-HSA-381033)) to upregulate chaperone proteins and restore ER homeostasis ([GO:0034976](https://www.ebi.ac.uk/QuickGO/term/GO:0034976)). This function has been confirmed in multiple studies ([Link](https://doi.org/10.1074/jbc.m300923200), [Link](https://doi.org/10.1111/j.1471-4159.2005.03596.x)). * **Lysosome Biogenesis and Protein Trafficking:** Recent evidence has linked [MBTPS1](/details-gene/8720) to [lysosome organization](/details-cell/GO0007040) and the proteolytic processing of proteins essential for biomineralization and lysosomal function ([Link](https://doi.org/10.1126/science.1205677), [Link](https://doi.org/10.1073/pnas.2100133118)). Deficiencies in [MBTPS1](/details-gene/8720) have been shown to cause human skeletal dysplasia due to impaired inter-organelle protein trafficking ([Link](https://doi.org/10.1172/jci.insight.121596)). ## Research Directions The widespread importance of [MBTPS1](/details-gene/8720) in cellular homeostasis presents several avenues for future investigation, particularly concerning its role in cell-type-specific pathologies. **Proposed Hypotheses:** 1. Given its top significance in [retinal cone cell](/details-cell/CL0000573)s and [retinal rod cell](/details-cell/CL0000604)s and its role in lipid metabolism, we hypothesize that cell-specific dysfunction of [MBTPS1](/details-gene/8720) contributes to the pathogenesis of retinal degenerative diseases characterized by impaired photoreceptor membrane turnover. 2. Based on its high expression in secretory cells like [tracheal goblet cell](/details-cell/CL1000329) and its function in the UPR, we hypothesize that [MBTPS1](/details-gene/8720) activity is a key regulatory node in airway mucus hypersecretion during chronic inflammatory lung diseases like asthma or cystic fibrosis, where ER stress is a known pathological feature. **Experimental Approach for Hypothesis 1:** To test the role of [MBTPS1](/details-gene/8720) in photoreceptor health, a conditional knockout mouse model could be generated to specifically delete the gene in retinal photoreceptors. The functional consequences would be assessed using electroretinography (ERG) to measure retinal electrical responses to light. Structural changes, such as defects in photoreceptor outer segment morphology and disc shedding, could be quantified using transmission electron microscopy. Furthermore, lipidomic analysis of isolated retinas via mass spectrometry would reveal specific defects in the lipid composition critical for membrane integrity. **Therapeutic Potential:** [MBTPS1](/details-gene/8720) is a challenging therapeutic target due to its central role in fundamental cellular processes. Systemic inhibition would likely lead to severe toxicity by disrupting cholesterol homeostasis and the UPR in all cells. However, for monogenic diseases caused by loss-of-function mutations, such as the reported skeletal dysplasia ([Link](https://doi.org/10.1172/jci.insight.121596)), therapeutic strategies involving activation would be more appropriate. This could include gene replacement therapy or the development of small molecule chaperones or activators to restore partial enzymatic function, potentially targeted to the affected tissues.

Disclaimer: This in-silico analysis is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

MBTP1_HUMAN

Genular Protein ID: 1718744739

Symbol: MBTP1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q14703 A8K6V8 Q24JQ2 Q9UF67

Database IDs:

Citations:

PubMed ID: 10944850

Title: Genomic structure and chromosomal mapping of the human site-1 protease (S1P) gene.

PubMed ID: 10944850

DOI: 10.1007/s100380070029

PubMed ID: 7788527

Title: Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1.

PubMed ID: 7788527

DOI: 10.1093/dnares/2.1.37

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 10644685

Title: Biosynthesis and enzymatic characterization of human SKI-1/S1P and the processing of its inhibitory prosegment.

PubMed ID: 10644685

DOI: 10.1074/jbc.275.4.2349

PubMed ID: 9990022

Title: Mammalian subtilisin/kexin isozyme SKI-1: a widely expressed proprotein convertase with a unique cleavage specificity and cellular localization.

PubMed ID: 9990022

DOI: 10.1073/pnas.96.4.1321

PubMed ID: 12782636

Title: A serine protease inhibitor prevents endoplasmic reticulum stress-induced cleavage but not transport of the membrane-bound transcription factor ATF6.

PubMed ID: 12782636

DOI: 10.1074/jbc.m300923200

PubMed ID: 16417584

Title: Cleavage of the membrane-bound transcription factor OASIS in response to endoplasmic reticulum stress.

PubMed ID: 16417584

DOI: 10.1111/j.1471-4159.2005.03596.x

PubMed ID: 21719679

Title: A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism.

PubMed ID: 21719679

DOI: 10.1126/science.1205677

PubMed ID: 26091039

Title: A single kinase generates the majority of the secreted phosphoproteome.

PubMed ID: 26091039

DOI: 10.1016/j.cell.2015.05.028

PubMed ID: 30046013

Title: Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.

PubMed ID: 30046013

DOI: 10.1172/jci.insight.121596

PubMed ID: 34349020

Title: Proteolytic processing of secretory pathway kinase Fam20C by site-1 protease promotes biomineralization.

PubMed ID: 34349020

DOI: 10.1073/pnas.2100133118

PubMed ID: 36096887

Title: GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway.

PubMed ID: 36096887

DOI: 10.1038/s41467-022-33025-1

PubMed ID: 36330313

Title: Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient.

PubMed ID: 36330313

DOI: 10.1155/2022/5498109

Sequence Information:

Length: 1052
Mass: 117749
Checksum: CA6F013588595B45
Sequence:

MKLVNIWLLL LVVLLCGKKH LGDRLEKKSF EKAPCPGCSH LTLKVEFSST VVEYEYIVAF 
NGYFTAKARN SFISSALKSS EVDNWRIIPR NNPSSDYPSD FEVIQIKEKQ KAGLLTLEDH 
PNIKRVTPQR KVFRSLKYAE SDPTVPCNET RWSQKWQSSR PLRRASLSLG SGFWHATGRH 
SSRRLLRAIP RQVAQTLQAD VLWQMGYTGA NVRVAVFDTG LSEKHPHFKN VKERTNWTNE 
RTLDDGLGHG TFVAGVIASM RECQGFAPDA ELHIFRVFTN NQVSYTSWFL DAFNYAILKK 
IDVLNLSIGG PDFMDHPFVD KVWELTANNV IMVSAIGNDG PLYGTLNNPA DQMDVIGVGG 
IDFEDNIARF SSRGMTTWEL PGGYGRMKPD IVTYGAGVRG SGVKGGCRAL SGTSVASPVV 
AGAVTLLVST VQKRELVNPA SMKQALIASA RRLPGVNMFE QGHGKLDLLR AYQILNSYKP 
QASLSPSYID LTECPYMWPY CSQPIYYGGM PTVVNVTILN GMGVTGRIVD KPDWQPYLPQ 
NGDNIEVAFS YSSVLWPWSG YLAISISVTK KAASWEGIAQ GHVMITVASP AETESKNGAE 
QTSTVKLPIK VKIIPTPPRS KRVLWDQYHN LRYPPGYFPR DNLRMKNDPL DWNGDHIHTN 
FRDMYQHLRS MGYFVEVLGA PFTCFDASQY GTLLMVDSEE EYFPEEIAKL RRDVDNGLSL 
VIFSDWYNTS VMRKVKFYDE NTRQWWMPDT GGANIPALNE LLSVWNMGFS DGLYEGEFTL 
ANHDMYYASG CSIAKFPEDG VVITQTFKDQ GLEVLKQETA VVENVPILGL YQIPAEGGGR 
IVLYGDSNCL DDSHRQKDCF WLLDALLQYT SYGVTPPSLS HSGNRQRPPS GAGSVTPERM 
EGNHLHRYSK VLEAHLGDPK PRPLPACPRL SWAKPQPLNE TAPSNLWKHQ KLLSIDLDKV 
VLPNFRSNRP QVRPLSPGES GAWDIPGGIM PGRYNQEVGQ TIPVFAFLGA MVVLAFFVVQ 
INKAKSRPKR RKPRVKRPQL MQQVHPPKTP SV

Details for: MBTPS1

Cell Significance Landscape

Associated with

Significant Cells

Network Configuration

Legend:

Other Information

Genomic structure and chromosomal mapping of the human site-1 protease (S1P) gene. PubMed ID: 10944850

Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. PubMed ID: 7788527

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The sequence and analysis of duplication-rich human chromosome 16. PubMed ID: 15616553

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

The full-ORF clone resource of the German cDNA consortium. PubMed ID: 17974005

Biosynthesis and enzymatic characterization of human SKI-1/S1P and the processing of its inhibitory prosegment. PubMed ID: 10644685

Mammalian subtilisin/kexin isozyme SKI-1: a widely expressed proprotein convertase with a unique cleavage specificity and cellular localization. PubMed ID: 9990022

A serine protease inhibitor prevents endoplasmic reticulum stress-induced cleavage but not transport of the membrane-bound transcription factor ATF6. PubMed ID: 12782636

Cleavage of the membrane-bound transcription factor OASIS in response to endoplasmic reticulum stress. PubMed ID: 16417584

A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism. PubMed ID: 21719679

A single kinase generates the majority of the secreted phosphoproteome. PubMed ID: 26091039

Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking. PubMed ID: 30046013

Proteolytic processing of secretory pathway kinase Fam20C by site-1 protease promotes biomineralization. PubMed ID: 34349020

GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway. PubMed ID: 36096887

Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient. PubMed ID: 36330313