Interferon-induced transmembrane protein 5

Interferon-induced transmembrane protein 5 is a gene that encodes a membrane protein thought to play a role in bone mineralization.

IFITM5
Identifiers
Aliases	IFITM5, interferon induced transmembrane protein 5, BRIL, DSPA1, Hrmp1, OI5, fragilis4
External IDs	OMIM: 614757; MGI: 1934923; HomoloGene: 14210; GeneCards: IFITM5; OMA:IFITM5 - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11p15.5 Start 298,200 bp[1] End 299,526 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 F5 Start 140,528,871 bp[2] End 140,530,204 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas granulocyte blood gonad bone marrow gastric mucosa right lung right coronary artery upper lobe of left lung olfactory zone of nasal mucosa Top expressed in calvaria body of femur molar fossa ankle granulocyte embryo embryo condyle morula More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 387733 73835 Ensembl ENSG00000206013 ENSMUSG00000025489 UniProt A6NNB3 O88728 RefSeq (mRNA) NM_001025295 NM_053088 RefSeq (protein) NP_001020466 NP_444318 Location (UCSC) Chr 11: 0.3 – 0.3 Mb Chr 7: 140.53 – 140.53 Mb PubMed search [3] [4]
Wikidata
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Genomics

The gene is located on the short arm of the Crick strand of chromosome 11 (11p15.5). It is located with a cluster of interferon inducible genes but is itself not interferon inducible. The gene is 1,327 bases in length and encodes a protein of 132 amino acids with a predicted molecular weight of 14378 daltons. Expression in adults is bone specific and highest in osteoblasts. ^{[citation needed]}

The homolog in the mouse is located on chromosome 7. A homolog is also known to be present in lizards.^{[citation needed]}

Evolution

The gene first appeared in bony fish and its bone specific expression appears to be limited to therian mammals.^{[citation needed]}

Biochemistry

The protein has two transmembrane domains. It associates with FK506 binding protein 11.^[5]

Clinical

Mutations in the gene are associated with osteogenesis imperfecta type 5.^[6]