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Mbtps1 - membrane-bound transcription factor peptidase, site 1 (house mouse)

Gene
Symbol
Dates
  • Create:
    2016-09-14
  • Modify:
    2025-01-29
Description
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 central nervous system; ectoplacental cone; genitourinary system; 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).

1 Names and Identifiers

1.1 Synonyms

  • 0610038M03Rik
  • S1P
  • SKI-1
  • Ski1
  • mKIAA0091
  • membrane-bound transcription factor site-1 protease
  • S1P endopeptidase
  • endopeptidase S1P
  • membrane-bound transcription factor protease, site 1
  • site-1 protease
  • sterol-regulated luminal protease
  • subtilisin/kexin isozyme 1
  • subtilisin/kexin isozyme SKI-1

1.2 Other Identifiers

1.2.1 Ensembl ID

1.2.2 Alliance Gene ID

1.2.3 Bgee Gene ID

1.2.4 Enzyme Commission (EC) Number

1.2.5 MGI ID

1.2.6 VEuPathDB ID

1.2.7 Wikidata

3 Proteins

3.1 Protein Function

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 regulated intramembrane proteolysis activation of the sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2. Also mediates the first step of the regulated intramembrane 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 (PMID: 34349020). 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 (By similarity).

3.2 Protein 3D Structures

3.2.1 AlphaFold Structures

Highly accurate protein structure prediction with AlphaFold. Nature. 2021 Aug;596(7873):583-589. DOI:10.1038/s41586-021-03819-2. PMID:34265844; PMCID:PMC8371605

3.3 Protein Targets

4 BioAssays

4.1 RNAi BioAssays

5 Interactions and Pathways

5.1 Interactions

5.2 Pathways

6 Expression

7 Literature

7.1 Consolidated References

7.2 Gene-Chemical Co-Occurrences in Literature

7.3 Gene-Gene Co-Occurrences in Literature

7.4 Gene-Disease Co-Occurrences in Literature

8 Patents

8.1 Gene-Chemical Co-Occurrences in Patents

8.2 Gene-Gene Co-Occurrences in Patents

8.3 Gene-Disease Co-Occurrences in Patents

9 Classification

9.1 Gene Ontology: Biological Process

9.2 Gene Ontology: Cellular Component

9.3 Gene Ontology: Molecular Function

10 Information Sources

  1. NCBI Gene
    LICENSE
    NCBI Website and Data Usage Policies and Disclaimers
    https://www.ncbi.nlm.nih.gov/home/about/policies/
  2. PubChem
  3. Alliance of Genome Resources
    LICENSE
    All annotations and data produced by Alliance members that are accessible from alliancegenome.org are distributed under a CC BY 4.0 license (https://creativecommons.org/licenses/by/4.0/).
    https://www.alliancegenome.org/privacy-warranty-licensing
  4. BioGRID
    LICENSE
    The MIT License (MIT); Copyright Mike Tyers Lab
    https://wiki.thebiogrid.org/doku.php/terms_and_conditions
  5. STRING: functional protein association networks
  6. Mouse Genome Informatics (MGI)
    LICENSE
    MGI data and annotations are licensed under a Creative Commons Attribution 4.0 International License (CC-BY).
    https://www.informatics.jax.org/mgihome/other/copyright.shtml
  7. NCBI Gene Expression Omnibus (GEO)
  8. Swiss Institute of Bioinformatics Bgee
    LICENSE
    Creative Commons Zero license (CC0)
    https://www.bgee.org/about/
  9. UniProt
    LICENSE
    We have chosen to apply the Creative Commons Attribution (CC BY 4.0, http://creativecommons.org/licenses/by/4.0/) License to all copyrightable parts of our databases.
    https://www.uniprot.org/help/license
  10. VEuPathDB: The Eukaryotic Pathogen, Vector and Host Informatics Resource
    LICENSE
    All data on VEuPathDB websites are provided freely for public use.
    https://veupathdb.org/veupathdb/app/static-content/about.html
  11. Wikidata
  12. Gene Ontology (GO)
    LICENSE
    Gene Ontology Consortium data and data products are licensed under the Creative Commons Attribution 4.0 Unported License (https://creativecommons.org/licenses/by/4.0/legalcode)
    http://geneontology.org/docs/go-citation-policy/
  13. AlphaFold DB
    LICENSE
    All of the data provided is freely available for both academic and commercial use under Creative Commons Attribution 4.0 (CC-BY 4.0) licence terms.
    https://alphafold.ebi.ac.uk/faq
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