InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RHBDD1

Summary

InnateDB Protein

IDBP-82419.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RHBDD1

Protein Name

rhomboid domain containing 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000344779

InnateDB Gene

IDBG-82417 (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:18953687, ECO:0000269PubMed:22624035}.

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Endoplasmic reticulum membrane; Multi-pass membrane protein. Mitochondrion {ECO:0000305}.

Disease Associations

Tissue Specificity

Expressed strongly in testis.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

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