Version 5.4
Homo sapiens Gene: MBTPS1
Summary
InnateDB Gene IDBG-44124.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MBTPS1
Gene Name membrane-bound transcription factor peptidase, site 1
Synonyms PCSK8; S1P; SKI-1
Species Homo sapiens
Ensembl Gene ENSG00000140943
Encoded Proteins
IDBP-44126
membrane-bound transcription factor peptidase, site 1
IDBP-808373
membrane-bound transcription factor peptidase, site 1
IDBP-745911
IDBP-754366
IDBP-745576
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The encoded protein has a central role in the regulation of lipid metabolism in cells. It is a sterol-regulated subtilisin-like serine protease that cleaves ER membrane-bound sterol regulatory element-binding proteins (SREBPs), a reaction that initiates the two-step proteolytic process by which transcriptionally active fragments of SREBPs are released from the membrane for translocation to the nucleus. The gene product is an integral membrane ER protein, with the bulk located in the ER lumen. It is synthesized as an inactive preproprotein that is self-activated by an intramolecular cleavage that generates the mature protein. [provided by RefSeq, Jul 2008]
This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:84053761-84116906
Strand Reverse strand
Band q24.1
Transcripts
ENST00000343411 ENSP00000344223
ENST00000567557
ENST00000564049
ENST00000562788 ENSP00000481088
ENST00000568051
ENST00000569770
ENST00000565863
ENST00000570012 ENSP00000457954
ENST00000564643
ENST00000569907 ENSP00000456553
ENST00000562886
ENST00000564444
ENST00000570064
ENST00000561936
ENST00000563231 ENSP00000457508
ENST00000562906
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
Experimentally validated
Total 19 [view]
Protein-Protein 19 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004175 endopeptidase activity
GO:0004252 serine-type endopeptidase activity
Biological Process
GO:0006508 proteolysis
GO:0006629 lipid metabolic process
GO:0006987 activation of signaling protein activity involved in unfolded protein response
GO:0007040 lysosome organization
GO:0008203 cholesterol metabolic process
GO:0030968 endoplasmic reticulum unfolded protein response
GO:0042990 regulation of transcription factor import into nucleus
GO:0044267 cellular protein metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0000139 Golgi membrane
GO:0005788 endoplasmic reticulum lumen
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005795 Golgi stack
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000031835
View Gene Order
ENSBTAG00000010170
Not yet available
Pathways
NETPATH
REACTOME
REACT_18348
ATF6-alpha activates chaperones pathway
REACT_147797
Regulation of cholesterol biosynthesis by SREBP (SREBF) pathway
REACT_18356
Unfolded Protein Response (UPR) pathway
REACT_22258
Metabolism of lipids and lipoproteins pathway
REACT_17015
Metabolism of proteins pathway
REACT_111217
Metabolism pathway
KEGG
hsa04141
Protein processing in endoplasmic reticulum pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.596527 Hs.75890
RefSeq NM_003791
HUGO
OMIM
CCDS CCDS10941
HPRD 04522
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca