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
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products ...
(EC 3.4.21.112) that in humans is encoded by the MBTPS1
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
S1P cleaves the
endoplasmic reticulum loop of
sterol regulatory element-binding protein
Sterol regulatory element-binding proteins (SREBPs) are transcription factors that bind to the sterol regulatory element DNA sequence TCACNCCAC. Mammalian SREBPs are encoded by the genes ''SREBF1'' and '' SREBF2''. SREBPs belong to the basic- ...
(SREBP)
transcription factor
In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence. The f ...
s.
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.
Clinical significance
Mutations in this gene may be associated with lysosomal dysfunction.
See also
*
Membrane-bound transcription factor site-2 protease
Membrane-bound transcription factor site-2 protease, also known as S2P endopeptidase or site-2 protease (S2P), is an enzyme () encoded by the gene which liberates the N-terminal fragment of sterol regulatory element-binding protein (SREBP) tra ...
References
External links
*
EC 3.4.21
{{gene-16-stub