Bleomycin hydrolase is an enzyme that in humans is encoded by the BLMH gene.
Ubiquitin specific peptidase 5 is an enzyme that in humans is encoded by the USP5 gene.
Minor histocompatibility antigen H13 is a protein that in humans is encoded by the HM13 gene.
Syntaxin-binding protein 3 is a protein that in humans is encoded by the STXBP3 gene.
Ubiquitin specific peptidase 10, also known as USP10, is an enzyme which in humans is encoded by the USP10 gene.
Ectonucleoside triphosphate diphosphohydrolase 6 is an enzyme that in humans is encoded by the ENTPD6 gene.
Ubiquitin carboxyl-terminal hydrolase 16 is an enzyme that in humans is encoded by the USP16 gene.
Ubiquitin specific protease 4 (USP4) is an enzyme that cleaves ubiquitin from a number of protein substrates. Prior to the standardization of nomenclature USP4 was known as UNP, and was one of the first deubiquitinating enzymes to be identified in mammals. In the mouse and human the USP4 protein is encoded by a gene containing 22 exons.
Serine protease 23 is an enzyme that in humans is encoded by the PRSS23 gene.
Signal peptide peptidase 3, also known as UNQ1887, is a human gene.
Ubiquitin carboxyl-terminal hydrolase 33 is an enzyme that in humans is encoded by the USP33 gene.
Signal peptide peptidase-like 2A, also known as SPPL2A, is a human gene.
Solute carrier family 2, facilitated glucose transporter member 6 is a protein that in humans is encoded by the SLC2A6 gene.
Inactive ubiquitin carboxyl-terminal hydrolase 53 is a protein that in humans is encoded by the USP53 gene.
Presenilins-associated rhomboid-like protein, mitochondrial (PSARL), also known as PINK1/PGAM5-associated rhomboid-like protease (PARL), is an inner mitochondrial membrane protein that in humans is encoded by the PARL gene on chromosome 3. It is a member of the rhomboid family of intramembrane serine proteases. This protein is involved in signal transduction and apoptosis, as well as neurodegenerative diseases and type 2 diabetes.
Inactive rhomboid protein 1 (iRhom1) also known as rhomboid 5 homolog 1 or rhomboid family member 1 (RHBDF1) is a protein that in humans is encoded by the RHBDF1 gene. The alternative name iRhom1 has been proposed, in order to clarify that it is a catalytically inactive member of the rhomboid family of intramembrane serine proteases.
Howel–Evans syndrome is an extremely rare condition involving thickening of the skin in the palms of the hands and the soles of the feet (hyperkeratosis). This familial disease is associated with a high lifetime risk of esophageal cancer. For this reason, it is sometimes known as tylosis with oesophageal cancer (TOC).
The rhomboid proteases are a family of enzymes that exist in almost all species. They are proteases: they cut the polypeptide chain of other proteins. This proteolytic cleavage is irreversible in cells, and an important type of cellular regulation. Although proteases are one of the earliest and best studied class of enzyme, rhomboids belong to a much more recently discovered type: the intramembrane proteases. What is unique about intramembrane proteases is that their active sites are buried in the lipid bilayer of cell membranes, and they cleave other transmembrane proteins within their transmembrane domains. About 30% of all proteins have transmembrane domains, and their regulated processing often has major biological consequences. Accordingly, rhomboids regulate many important cellular processes, and may be involved in a wide range of human diseases.
Intramembrane proteases (IMPs), also known as intramembrane-cleaving proteases (I-CLiPs), are enzymes that have the property of cleaving transmembrane domains of integral membrane proteins. All known intramembrane proteases are themselves integral membrane proteins with multiple transmembrane domains, and they have their active sites buried within the lipid bilayer of cellular membranes. Intramembrane proteases are responsible for proteolytic cleavage in the cell signaling process known as regulated intramembrane proteolysis (RIP).
Rhomboid-related protein 2 is a protein that in humans is encoded by the RHBDL2 gene.
