Mus musculus Gene: Mbtps1
Summary
InnateDB Gene IDBG-195454.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Mbtps1
Gene Name membrane-bound transcription factor peptidase, site 1
Synonyms 0610038M03Rik; AV003995; mKIAA0091; S1P; SKI-1; Ski1
Species Mus musculus
Ensembl Gene ENSMUSG00000031835
Encoded Proteins
membrane-bound transcription factor peptidase, site 1
membrane-bound transcription factor peptidase, site 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000140943:
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 8:119508156-119558761
Strand Reverse strand
Band E1
Transcripts
ENSMUST00000098362 ENSMUSP00000095965
ENSMUST00000081381 ENSMUSP00000080117
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Predicted by orthology
Total 7 [view]
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:0007040 lysosome organization
GO:0008203 cholesterol metabolic process
GO:0042990 regulation of transcription factor import into nucleus
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
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Regulation of cholesterol biosynthesis by SREBP (SREBF) pathway
Unfolded Protein Response (UPR) pathway
Metabolism pathway
Metabolism of proteins pathway
Metabolism of lipids and lipoproteins pathway
ATF6-alpha activates chaperones pathway
Signalling by NGF pathway
Signal Transduction pathway
NGF processing pathway
KEGG
Protein processing in endoplasmic reticulum pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
ATF6-alpha activates chaperones pathway
Regulation of cholesterol biosynthesis by SREBP (SREBF) pathway
Unfolded Protein Response (UPR) pathway
Metabolism of lipids and lipoproteins pathway
Metabolism of proteins pathway
Metabolism pathway
KEGG
Protein processing in endoplasmic reticulum pathway
INOH
PID NCI
Cross-References
SwissProt Q9WTZ2
TrEMBL Q3TP75
UniProt Splice Variant
Entrez Gene 56453
UniGene Mm.206934 Mm.402337 Mm.444427
RefSeq NM_001167910 NM_019709
OMIM
CCDS CCDS22707
HPRD
IMGT
MGI ID MGI:1927235
MGI Symbol Mbtps1
EMBL AF094820 AK029048 AK164654 BC054837 BC057198
GenPept AAD27010 AAH54837 AAH57198 BAC26263 BAE37862
RNA Seq Atlas 56453