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)
End	84,116,942 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	120,285,474 bp
RNA expression pattern
	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
	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
	8720
	56453
	ENSG00000140943
	ENSMUSG00000031835
	Q14703
	Q9WTZ2
	NM_201268; NM_003791
	NM_001167910; NM_019709
	NP_003782
	NP_001161382; NP_062683
	Wikidata
View/Edit Human	View/Edit Mouse

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]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000140943 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031835 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Membrane-bound transcription factor peptidase, site 1".
^ 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.
^ 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000140943 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: Membrane-bound transcription factor peptidase, site 1".

[pmid10500120-6] 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.

[pmid10944850-7] 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.

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