Aliases for RHBDD1 Gene
External Ids for RHBDD1 Gene
Previous GeneCards Identifiers for RHBDD1 Gene
GeneCards Summary for RHBDD1 Gene
RHBDD1 (Rhomboid Domain Containing 1) is a Protein Coding gene. Diseases associated with RHBDD1 include Benign Mammary Dysplasia and Brain Glioblastoma Multiforme. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and endopeptidase activity. An important paralog of this gene is RHBDD3.
UniProtKB/Swiss-Prot Summary for RHBDD1 Gene
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.