Mus musculus Protein: Rhbdd1
Summary
InnateDB Protein IDBP-173639.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Rhbdd1
Protein Name rhomboid domain containing 1
Synonyms 4930418P06Rik; mRHBDD1; RRP4;
Species Mus musculus
Ensembl Protein ENSMUSP00000027322
InnateDB Gene IDBG-173637 (Rhbdd1)
Protein Structure
UniProt Annotation
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; inhibits apoptotic activity in spermatogonia. {ECO:0000269PubMed:19358743, ECO:0000269PubMed:22795130}.
Subcellular Localization Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Mitochondrion {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000269PubMed:22795130}; Multi-pass membrane protein {ECO:0000269PubMed:22795130}.
Disease Associations
Tissue Specificity Expressed in testis (at protein level). Expressed in intestine, lung, brain, kidney, epididymis, stomach, muscle, spleen, liver, heart and testis. {ECO:0000269PubMed:19358743}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004175 endopeptidase activity
GO:0004252 serine-type endopeptidase activity
GO:0005515 protein binding
Biological Process
GO:0006915 apoptotic process
GO:0010954 positive regulation of protein processing
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process
GO:0031293 membrane protein intracellular domain proteolysis
GO:0033619 membrane protein proteolysis
GO:0034620 cellular response to unfolded protein
GO:0034644 cellular response to UV
GO:0043066 negative regulation of apoptotic process
GO:0043687 post-translational protein modification
GO:0045732 positive regulation of protein catabolic process
GO:0048515 spermatid differentiation
GO:0051047 positive regulation of secretion
Cellular Component
GO:0005739 mitochondrion
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0044322 endoplasmic reticulum quality control compartment
Protein Structure and Domains
PDB ID MGI:1924117
InterPro IPR022764 Peptidase S54, rhomboid domain
PFAM PF01694
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8BHC7
PhosphoSite PhosphoSite-
TrEMBL
UniProt Splice Variant
Entrez Gene 76867
UniGene Mm.404271
RefSeq NP_084053
MGI ID
MGI Symbol Rhbdd1
OMIM
CCDS CCDS15097
HPRD
IMGT
EMBL AK015167 AK029751 AK076751 AK079448 AK142277 AY973322 BC005518
GenPept AAH05518 AAY41235 BAB29735 BAC26597 BAC36465 BAC37647 BAE25005