Membrane-bound transcription factor site-1 protease

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MBTPS1
Identifiers
Aliases MBTPS1, membrane-bound transcription factor peptidase, site 1, PCSK8, S1P, SKI-1, membrane bound transcription factor peptidase, site 1
External IDs MGI: 1927235 HomoloGene: 2808 GeneCards: MBTPS1
Gene location (Human)
Chromosome 16 (human)
Chr. Chromosome 16 (human)[1]
Chromosome 16 (human)
Genomic location for MBTPS1
Genomic location for MBTPS1
Band 16q23.3-q24.1 Start 84,053,761 bp[1]
End 84,116,906 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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 16: 119.51 – 119.56 Mb
PubMed search [3] [4]
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]

Function[edit]

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[edit]

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

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000140943 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031835 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ a b c "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. PMC 34238Freely accessible. PMID 10500120. doi:10.1073/pnas.96.20.11041. 
  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. PMID 10944850. doi:10.1007/s100380070029. 

External links[edit]

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