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Guidelines

MIRAGE

membrane bound transcription factor peptidase, site 1

Summary

Gene Symbol

MBTPS1

Organism

Homo sapiens (human)

External Links

NCBI Gene

8720

KEGG Gene ID

PubChem

8720

Alliance of Genome Resources

HGNC:15456

Annotation

Keyword

3D-structure
Autocatalytic cleavage
Calcium
Cataract
Cholesterol metabolism
Direct protein sequencing
Disease variant
Dwarfism
Endoplasmic reticulum
Glycoprotein
Golgi apparatus
Hypotrichosis
Mitochondrion
Phosphoprotein
Proteomics identification
Reference proteome
Secreted
Serine protease
Signal
Transmembrane helix
Zymogen

Proteins

Displaying 1 entry
UniProt	Protein Name
Q14703	Endopeptidase S1P Subtilisin/kexin-isozyme 1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 17 in total

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GO Term	Evidence Code	PMID
proteolysis	TAS
proteolysis	IMP
proteolysis	IEA
protein import into nucleus
lysosome organization	IMP

GO Hierarchy

biological process

cellular process [inference]

signal transduction [inference]

intracellular signal transduction [inference]

cell cycle checkpoint signaling [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic DNA integrity checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

DNA integrity checkpoint signaling [inference]

DNA damage checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

mitotic DNA integrity checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

ER-nucleus signaling pathway [inference]

ATF6-mediated unfolded protein response

endoplasmic reticulum unfolded protein response

ATF6-mediated unfolded protein response

signal transduction in response to DNA damage [inference]

DNA damage checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein processing

membrane protein proteolysis [inference]

membrane protein intracellular domain proteolysis

protein maturation

protein processing

primary metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

sterol metabolic process [inference]

cholesterol metabolic process

protein metabolic process [inference]

protein processing

membrane protein proteolysis [inference]

membrane protein intracellular domain proteolysis

protein maturation

protein processing

small molecule metabolic process [inference]

alcohol metabolic process [inference]

secondary alcohol metabolic process [inference]

cholesterol metabolic process

intercellular transport [inference]

import into nucleus [inference]

protein import into nucleus

cell cycle process [inference]

mitotic cell cycle process [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic DNA integrity checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

cellular localization [inference]

intracellular transport [inference]

intracellular protein transport [inference]

protein import into nucleus

nuclear transport [inference]

nucleocytoplasmic transport [inference]

import into nucleus [inference]

protein import into nucleus

cellular response to stimulus [inference]

cellular response to stress [inference]

DNA damage response [inference]

signal transduction in response to DNA damage [inference]

DNA damage checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

response to endoplasmic reticulum stress

endoplasmic reticulum unfolded protein response

ATF6-mediated unfolded protein response

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

vacuole organization [inference]

lytic vacuole organization [inference]

lysosome organization

response to stimulus [inference]

response to stress [inference]

cellular response to stress [inference]

DNA damage response [inference]

signal transduction in response to DNA damage [inference]

DNA damage checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

response to endoplasmic reticulum stress

endoplasmic reticulum unfolded protein response

ATF6-mediated unfolded protein response

cellular response to stimulus [inference]

cellular response to stress [inference]

DNA damage response [inference]

signal transduction in response to DNA damage [inference]

DNA damage checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

response to endoplasmic reticulum stress

endoplasmic reticulum unfolded protein response

ATF6-mediated unfolded protein response

localization [inference]

macromolecule localization [inference]

intracellular protein localization [inference]

protein transport [inference]

intracellular protein transport [inference]

protein import into nucleus

protein localization to organelle [inference]

protein localization to nucleus [inference]

protein import into nucleus

establishment of localization [inference]

transport [inference]

intercellular transport [inference]

import into nucleus [inference]

protein import into nucleus

protein transport [inference]

intracellular protein transport [inference]

protein import into nucleus

intracellular transport [inference]

intracellular protein transport [inference]

protein import into nucleus

nuclear transport [inference]

nucleocytoplasmic transport [inference]

import into nucleus [inference]

protein import into nucleus

establishment of protein localization [inference]

protein transport [inference]

intracellular protein transport [inference]

protein import into nucleus

establishment of protein localization to organelle [inference]

protein import into nucleus

establishment of localization in cell [inference]

intracellular transport [inference]

intracellular protein transport [inference]

protein import into nucleus

nuclear transport [inference]

nucleocytoplasmic transport [inference]

import into nucleus [inference]

protein import into nucleus

cellular localization [inference]

intracellular transport [inference]

intracellular protein transport [inference]

protein import into nucleus

nuclear transport [inference]

nucleocytoplasmic transport [inference]

import into nucleus [inference]

protein import into nucleus

biological regulation [inference]

regulation of biological process [inference]

regulation of localization [inference]

regulation of transport [inference]

regulation of vesicle-mediated transport

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of cell cycle [inference]

negative regulation of cell cycle process [inference]

negative regulation of cell cycle phase transition [inference]

cell cycle checkpoint signaling [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic DNA integrity checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

DNA integrity checkpoint signaling [inference]

DNA damage checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

mitotic DNA integrity checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

negative regulation of mitotic cell cycle phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

negative regulation of cell cycle G2/M phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

negative regulation of mitotic cell cycle [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic DNA integrity checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

negative regulation of mitotic cell cycle phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

regulation of cellular process [inference]

signal transduction [inference]

intracellular signal transduction [inference]

cell cycle checkpoint signaling [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic DNA integrity checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

DNA integrity checkpoint signaling [inference]

DNA damage checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

mitotic DNA integrity checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

ER-nucleus signaling pathway [inference]

ATF6-mediated unfolded protein response

endoplasmic reticulum unfolded protein response

ATF6-mediated unfolded protein response

signal transduction in response to DNA damage [inference]

DNA damage checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

regulation of lipid biosynthetic process [inference]

regulation of steroid biosynthetic process [inference]

regulation of sterol biosynthetic process [inference]

regulation of cholesterol biosynthetic process

regulation of alcohol biosynthetic process [inference]

regulation of cholesterol biosynthetic process

regulation of small molecule metabolic process [inference]

regulation of cholesterol metabolic process [inference]

regulation of cholesterol biosynthetic process

regulation of alcohol biosynthetic process [inference]

regulation of cholesterol biosynthetic process

regulation of primary metabolic process [inference]

regulation of lipid metabolic process [inference]

regulation of steroid metabolic process [inference]

regulation of steroid biosynthetic process [inference]

regulation of sterol biosynthetic process [inference]

regulation of cholesterol biosynthetic process

regulation of cholesterol metabolic process [inference]

regulation of cholesterol biosynthetic process

regulation of lipid biosynthetic process [inference]

regulation of steroid biosynthetic process [inference]

regulation of sterol biosynthetic process [inference]

regulation of cholesterol biosynthetic process

negative regulation of cellular process [inference]

negative regulation of cell cycle [inference]

negative regulation of cell cycle process [inference]

negative regulation of cell cycle phase transition [inference]

cell cycle checkpoint signaling [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic DNA integrity checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

DNA integrity checkpoint signaling [inference]

DNA damage checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

mitotic DNA integrity checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

negative regulation of mitotic cell cycle phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

negative regulation of cell cycle G2/M phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

negative regulation of mitotic cell cycle [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic DNA integrity checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

negative regulation of mitotic cell cycle phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

regulation of cell cycle [inference]

regulation of mitotic cell cycle [inference]

negative regulation of mitotic cell cycle [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic DNA integrity checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

negative regulation of mitotic cell cycle phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

regulation of mitotic cell cycle phase transition [inference]

regulation of G2/M transition of mitotic cell cycle [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

negative regulation of mitotic cell cycle phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

regulation of cell cycle process [inference]

negative regulation of cell cycle process [inference]

negative regulation of cell cycle phase transition [inference]

cell cycle checkpoint signaling [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic DNA integrity checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

DNA integrity checkpoint signaling [inference]

DNA damage checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

mitotic DNA integrity checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

negative regulation of mitotic cell cycle phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

negative regulation of cell cycle G2/M phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

regulation of cell cycle phase transition [inference]

negative regulation of cell cycle phase transition [inference]

cell cycle checkpoint signaling [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic DNA integrity checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

DNA integrity checkpoint signaling [inference]

DNA damage checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

mitotic DNA integrity checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

negative regulation of mitotic cell cycle phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

negative regulation of cell cycle G2/M phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

regulation of mitotic cell cycle phase transition [inference]

regulation of G2/M transition of mitotic cell cycle [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

negative regulation of mitotic cell cycle phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

regulation of cell cycle G2/M phase transition [inference]

regulation of G2/M transition of mitotic cell cycle [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

negative regulation of cell cycle G2/M phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

negative regulation of cell cycle [inference]

negative regulation of cell cycle process [inference]

negative regulation of cell cycle phase transition [inference]

cell cycle checkpoint signaling [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic DNA integrity checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

DNA integrity checkpoint signaling [inference]

DNA damage checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

mitotic DNA integrity checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

negative regulation of mitotic cell cycle phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

negative regulation of cell cycle G2/M phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

negative regulation of mitotic cell cycle [inference]

mitotic cell cycle checkpoint signaling [inference]

mitotic DNA integrity checkpoint signaling [inference]

mitotic DNA damage checkpoint signaling [inference]

mitotic G2 DNA damage checkpoint signaling

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

negative regulation of mitotic cell cycle phase transition [inference]

negative regulation of G2/M transition of mitotic cell cycle [inference]

mitotic G2/M transition checkpoint [inference]

mitotic G2 DNA damage checkpoint signaling

regulation of vesicle-mediated transport

Displaying entries **1 - 5** of 12 in total

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GO Term	Evidence Code	PMID
Golgi membrane	EXP
Golgi membrane	TAS
Golgi membrane	IDA
Golgi membrane	IEA
extracellular region	IEA

GO Hierarchy

cellular component

cellular anatomical structure [inference]

extracellular region

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

bounding membrane of organelle [inference]

Golgi membrane

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

endoplasmic reticulum lumen

organelle subcompartment [inference]

Golgi apparatus subcompartment [inference]

Golgi stack

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Displaying entries **1 - 5** of 9 in total

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GO Term	Evidence Code	PMID
endopeptidase activity	IEA
serine-type endopeptidase activity	EXP
serine-type endopeptidase activity	TAS
serine-type endopeptidase activity	IDA
serine-type endopeptidase activity	IMP

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

peptidase activity [inference]

endopeptidase activity

serine-type endopeptidase activity

serine-type peptidase activity

serine-type endopeptidase activity

serine hydrolase activity [inference]

serine-type peptidase activity

serine-type endopeptidase activity

catalytic activity, acting on a protein [inference]

peptidase activity [inference]

endopeptidase activity

serine-type endopeptidase activity

serine-type peptidase activity

serine-type endopeptidase activity

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Membrane-bound transcription factor site-1 protease

Functional Category

M: Cell wall/membrane/envelope biogenesis
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 4** entries
Gene Ontology
hydrolase activity
proteolysis
serine-type endopeptidase activity
serine-type peptidase activity

Displaying **all 6** entries
InterPro
Peptidase S8, subtilisin, His-active site
Peptidase S8, subtilisin, Ser-active site
Peptidase S8, subtilisin-related
Peptidase S8/S53 domain superfamily
Peptidase S8/S53 domain
Site-1 peptidase catalytic domain

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0112283	spondyloepiphyseal dysplasia Kondo-Fu type	Alliance of Genome Resources

Ortholog

Displaying **all 2** entries
Species	Gene ID	Alliance of Genome Resources
Mus musculus	56453	MGI:1927235
Rattus norvegicus	89842	RGD:70935

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 6, 2026