Version 5.4
Homo sapiens Protein: RHBDF2
Summary
InnateDB Protein IDBP-69741.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RHBDF2
Protein Name rhomboid 5 homolog 2 (Drosophila)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000322775
InnateDB Gene IDBG-69739 (RHBDF2)
Protein Structure
UniProt Annotation
Function Rhomboid protease-like protein which has no protease activity but regulates the secretion of several ligands of the epidermal growth factor receptor. Indirectly activates the epidermal growth factor receptor signaling pathway and may thereby regulate sleep, cell survival, proliferation and migration (By similarity). {ECO:0000250}.
Subcellular Localization Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell membrane {ECO:0000269PubMed:22265016}.
Disease Associations Tylosis with esophageal cancer (TOC) [MIM:148500]: An autosomal dominant syndrome characterized by diffuse palmoplantar keratoderma, oral leukokeratosis, and a high lifetime risk of esophageal cancer. {ECO:0000269PubMed:22265016}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Found in the epidermis and esophageal epithelium. {ECO:0000269PubMed:22265016}.
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 3 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 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004252 serine-type endopeptidase activity
GO:0019838 growth factor binding
Biological Process
GO:0006508 proteolysis
GO:0015031 protein transport
GO:0045087 innate immune response (InnateDB)
GO:0050709 negative regulation of protein secretion
Cellular Component
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR022241 Rhomboid serine protease
IPR022764 Peptidase S54, rhomboid domain
PFAM PF12595
PF01694
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q6PJF5
PhosphoSite PhosphoSite-Q6PJF5
TrEMBL K7EQT5
UniProt Splice Variant
Entrez Gene 79651
UniGene Hs.464157
RefSeq NP_078875
HUGO HGNC:20788
OMIM 614404
CCDS CCDS32743
HPRD 07987
IMGT
EMBL AC015802 AK025994 AK292135 AK292166 AY500247 BC016034 BC035829
GenPept AAH16034 AAH35829 AAS77567 BAB15310 BAF84824 BAF84855

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca