| Gene Symbol |
RHBDD1
|
| Entrez Gene |
84236
|
| Alt Symbol |
RRP4
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
rhomboid domain containing 1
|
| Other Description |
rhomboid domain-containing protein 1|rhomboid-like protein 4|rhomboid-related protein 4
|
| Swissprots |
Q8IV60 Q53S43 Q8TEB9 Q5EBM8 Q495B9 Q6P5V8 Q9H057
|
| Accessions |
AAY24060 EAW70841 EAW70842 Q8TEB9 AK026955 AK074258 BAB85031 AK093986 AL512717 CAC21658 AL832364 AY640233 AAU14246 BC015553 BC027900 AAH27900 BC062636 AAH62636 BC071679 BC089404 AAH89404 BC101262 AAI01263 BC101263 AAI01264 BC101264 AAI01265 BC101265 AAI01266 BC111056 AAI11057 CA434330 DB024396 DQ570409 JF432471 ADZ15688 XM_011511978 XP_011510280 XM_011511979 XP_011510281 XR_923036 XR_923037 XR_923038 XR_923039 XR_923040 NM_001167608 NP_001161080 NM_032276 NP_115652
|
| Function |
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; in
|
| Subcellular Location |
Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Endoplasmic reticulum membrane; Multi-pass membrane protein. Mitochondrion {ECO:0000305}.
|
| Tissue Specificity |
Expressed strongly in testis.
|