MBTPS1
Identifiers
AliasesMBTPS1, membrane-bound transcription factor peptidase, site 1, PCSK8, S1P, SKI-1, membrane bound transcription factor peptidase, site 1, SEDKF
External IDsOMIM: 603355 MGI: 1927235 HomoloGene: 2808 GeneCards: MBTPS1
Orthologs
SpeciesHumanMouse
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 MbChr 8: 120.23 – 120.29 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

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

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000140943 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 3 "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.

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


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