RHBDD1
Description
The RHBDD1 (rhomboid domain containing 1) is a protein-coding gene located on chromosome 2.
RHBDD1 is an intramembrane-cleaving serine protease that cleaves single transmembrane or multi-pass membrane proteins within the hydrophobic plane of the membrane, luminal loops, and juxtamembrane regions. It plays a role in regulated intramembrane proteolysis, releasing functional polypeptides from their membrane anchors. RHBDD1 is a component of the endoplasmic reticulum-associated degradation (ERAD) pathway for misfolded membrane proteins, participating in the transfer of misfolded proteins from the ER to the cytosol for proteasomal degradation. This protein is involved in the processing of several proteins including BIK, MPZ, PKD1, PTCRA, RHO, STEAP3, and TRAC. RHBDD1 regulates exosomal secretion, inhibiting the TSAP6-mediated pathway, and also modulates apoptosis by influencing BIK-mediated apoptotic activity. Additionally, RHBDD1 plays a role in spermatogenesis, inhibiting apoptosis in spermatogonia.
RHBDD1 is also known as RHBDL4, RRP4.
