RHBDD1: Intramembrane-cleaving serine protease that cleaves single transmembrane or multi-pass membrane proteins in the hydrophobic plane of the membrane, luminal loops and juxtamembrane regions. Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded membrane proteins. Required for the degradation process of some specific misfolded endoplasmic reticulum (ER) luminal proteins. Participates in the transfer of misfolded proteins from the ER to the cytosol, where they are destroyed by the proteasome in a ubiquitin-dependent manner. Functions in BIK, MPZ, PKD1, PTCRA, RHO, STEAP3 and TRAC processing. Involved in the regulation of exosomal secretion; inhibits the TSAP6-mediated secretion pathway. Involved in the regulation of apoptosis; modulates BIK-mediated apoptotic activity. Also plays a role in the regulation of spermatogenesis; inhibits apoptotic activity in spermatogonia. Belongs to the peptidase S54 family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 3.4.21.105; Membrane protein, integral; Membrane protein, multi-pass; Protease
Chromosomal Location of Human Ortholog: 2q36.3
Cellular Component: endoplasmic reticulum membrane; mitochondrion; integral to endoplasmic reticulum membrane
Molecular Function: protein binding; serine-type endopeptidase activity; endopeptidase activity
Biological Process: spermatid differentiation; ER-associated protein catabolic process; membrane protein intracellular domain proteolysis; apoptosis; membrane protein proteolysis; positive regulation of protein catabolic process; positive regulation of secretion; post-translational protein modification; negative regulation of apoptosis
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