Membrane-bound transcription factor site-1 protease

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; OMA:MBTPS1 - orthologs
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 120,234,895 bp[2] End 120,285,474 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium Pituitary Gland left ovary anterior pituitary cerebellar hemisphere right hemisphere of cerebellum right ovary islet of Langerhans right uterine tube right lobe of thyroid gland Top expressed in saccule molar Gonadal ridge otic vesicle otic placode tail of embryo efferent ductule calvaria vas deferens medullary collecting duct More reference expression data BioGPS n/a
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 protein modification 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: 120.23 – 120.29 Mb PubMed search [3] [4]
Wikidata
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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]

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. Bibcode:1999PNAS...9611041B. 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 U.S. 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.