InnateDB Protein
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IDBP-173639.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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Rhbdd1
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Protein Name
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rhomboid domain containing 1
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Synonyms
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4930418P06Rik; mRHBDD1; RRP4;
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Species
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Mus musculus
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Ensembl Protein
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ENSMUSP00000027322
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InnateDB Gene
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IDBG-173637 (Rhbdd1)
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Protein Structure
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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}.
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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}.
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Disease Associations |
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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}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
MGI:1924117
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InterPro |
IPR022764
Peptidase S54, rhomboid domain
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PFAM |
PF01694
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8BHC7
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PhosphoSite |
PhosphoSite-
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
76867
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UniGene |
Mm.404271
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RefSeq |
NP_084053
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MGI ID |
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MGI Symbol |
Rhbdd1
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OMIM |
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CCDS |
CCDS15097
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HPRD |
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IMGT |
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EMBL |
AK015167
AK029751
AK076751
AK079448
AK142277
AY973322
BC005518
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GenPept |
AAH05518
AAY41235
BAB29735
BAC26597
BAC36465
BAC37647
BAE25005
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