Version 5.4
Homo sapiens Protein: IFITM5
Summary
InnateDB Protein IDBP-16181.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol IFITM5
Protein Name interferon induced transmembrane protein 5
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000372059
InnateDB Gene IDBG-16179 (IFITM5)
Protein Structure
UniProt Annotation
Function Plays a role in bone mineralization. {ECO:0000250}.
Subcellular Localization Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
Disease Associations Osteogenesis imperfecta 5 (OI5) [MIM:610967]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI5 patients manifest moderate to severe bone fragility, calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation. {ECO:0000269PubMed:22863190}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0009607 response to biotic stimulus
GO:0030282 bone mineralization
GO:0030500 regulation of bone mineralization
Cellular Component
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR007593 CD225/Dispanin family
PFAM PF04505
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt A6NNB3
PhosphoSite PhosphoSite-A6NNB3
TrEMBL
UniProt Splice Variant
Entrez Gene 387733
UniGene Hs.443469
RefSeq NP_001020466
HUGO HGNC:16644
OMIM 614757
CCDS CCDS31323
HPRD
IMGT
EMBL BC150562 BC150563 CH471278
GenPept AAI50563 AAI50564 EAW61222

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