Mbtps1 Gene Summary [Mouse]
Enables serine-type endopeptidase activity. Involved in membrane protein intracellular domain proteolysis and mitotic G2 DNA damage checkpoint signaling. Acts upstream of or within lipid metabolic process. Located in Golgi stack. Is expressed in several structures, including ectoplacental cone; genitourinary system; liver; neural tube; and somite. Used to study idiopathic scoliosis. Human ortholog(s) of this gene implicated in spondyloepiphyseal dysplasia Kondo-Fu type. Orthologous to human MBTPS1 (membrane bound transcription factor peptidase, site 1). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Retained Intron |
| Official Symbol | Mbtps1 |
| Official Name | membrane-bound transcription factor peptidase, site 1 [Source:MGI Symbol;Acc:MGI:1927235] |
| Ensembl ID | ENSMUSG00000031835 |
| Bio databases IDs | |
| Aliases | membrane-bound transcription factor peptidase, site 1 |
| Synonyms | 0610038M03Rik, AV003995, Kiaa0091, membrane-bound transcription factor peptidase, site 1, mKIAA0091, PCSK8, S1P, SEDKF, SKI-1 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Mbtps1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Peptidase domain in the S8 and S53 families
- type VII secretion-associated serine protease mycosin
- serine endopeptidase
- ER targeting sequence
- Subtilase family
- peptidase
- protein binding
- metalloendopeptidase
Pathways
Biological processes and signaling networks where the Mbtps1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- lung cancer
- Huntington disease
- Kondo-Fu type spondyloepiphyseal dysplasia
- idiopathic scoliosis
- chondrodysplasia
- cataract, alopecia, oral mucosal disorder and psoriasis-like syndrome
- abdominal aortic aneurysm
- carotid atherosclerosis
- allergic rhinitis
- infection by lymphocytic choriomeningitis virus
role in cell
- apoptosis
- differentiation
- senescence
- glycolysis in
- G2/M phase
- entrapment in
- processing in
- endoplasmic reticulum stress response
- molecular cleavage in
- organization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- biomineralization foci
- perinuclear region
- Golgi Apparatus
- Endoplasmic Reticulum
- Mitochondria
- endoplasmic reticulum membrane
- endoplasmic reticulum lumen
- medial face of the Golgi apparatus
- Golgi membrane
- Golgi stacks
- early endosomes
- late endosomes
- cis Golgi cisternae
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Mbtps1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lysosome organization
- mitotic cell cycle G2/M transition DNA damage checkpoint
- regulation of cholesterol biosynthetic process
- endoplasmic reticulum unfolded protein response
- membrane protein intracellular domain proteolysis
- proteolysis
- cholesterol metabolic process
- protein processing
- protein maturation
- regulation of vesicle-mediated transport
- response to endoplasmic reticulum stress
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum lumen
- Golgi apparatus
- Golgi membrane
- Golgi stack
Molecular Function
What the gene product does at the molecular level
- protein binding
- serine-type endopeptidase activity