Membrane-bound transcription factor site-1 protease

Membrane-bound transcription factor site-1 protease, or site-1 protease (S1P) for short, also known as subtilisin/kexin-isozyme 1 (SKI-1), is an enzyme (EC 3.4.21.112) that in humans is encoded by the MBTPS1 gene.[5] S1P cleaves the endoplasmic reticulum loop of sterol regulatory element-binding protein (SREBP) transcription factors.[6][7]

MBTPS1
Identifiers
Aliases	MBTPS1, membrane-bound transcription factor peptidase, site 1, PCSK8, S1P, SKI-1, membrane bound transcription factor peptidase, site 1, SEDKF
External IDs	OMIM: 603355 MGI: 1927235 HomoloGene: 2808 GeneCards: MBTPS1
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16q23.3-q24.1 Start 84,053,761 bp[1] End 84,116,942 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 E1 Start 119,508,156 bp[2] End 119,558,735 bp[2]
Gene ontology Molecular function • endopeptidase activity • peptidase activity • serine-type peptidase activity • hydrolase activity • serine-type endopeptidase activity • metalloendopeptidase activity Cellular component • integral component of membrane • Golgi apparatus • endoplasmic reticulum lumen • membrane • Golgi membrane • endoplasmic reticulum • Golgi stack • endoplasmic reticulum membrane Biological process • steroid metabolic process • lipid metabolism • cholesterol metabolic process • response to endoplasmic reticulum stress • proteolysis • ATF6-mediated unfolded protein response • membrane protein intracellular domain proteolysis • lysosome organization • endoplasmic reticulum unfolded protein response • post-translational modification • cellular protein metabolic process • regulation of cholesterol biosynthetic process • protein import into nucleus Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	8720	56453
Ensembl	ENSG00000140943	ENSMUSG00000031835
UniProt	Q14703	Q9WTZ2
RefSeq (mRNA)	NM_201268 NM_003791	NM_001167910 NM_019709
RefSeq (protein)	NP_003782	NP_001161382 NP_062683
Location (UCSC)	Chr 16: 84.05 – 84.12 Mb	Chr 8: 119.51 – 119.56 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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 endoplasmic reticulum (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.[5]

Clinical significance

Mutations in this gene may be associated with lysosomal dysfunction.[5]

See also

• Membrane-bound transcription factor site-2 protease

References

1. GRCh38: Ensembl release 89: ENSG00000140943 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000031835 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Membrane-bound transcription factor peptidase, site 1".
6. Brown MS, Goldstein JL (1999). "A proteolytic pathway that controls the cholesterol content of membranes, cells, and blood". Proc. Natl. Acad. Sci. U.S.A. 96 (20): 11041–8. doi:10.1073/pnas.96.20.11041. PMC 34238. PMID 10500120.
7. Nakajima T, Iwaki K, Kodama T, Inazawa J, Emi M (2000). "Genomic structure and chromosomal mapping of the human site-1 protease (S1P) gene". J. Hum. Genet. 45 (4): 212–7. doi:10.1007/s100380070029. PMID 10944850.

External links

• site-1+protease at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.