Interferon induced transmembrane protein 5
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Interferon induced transmembrane protein 5 is a gene that encodes a membrane protein thought to play a role in bone mineralization.
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.
The homolog in the mouse is located on chromosome 7. A homolog is also known to be present in lizards.
Evolution
The gene first appeared in bony fish and its bone specific expression appears to be limited to therian mammals.
Biochemistry
The protein has two transmembrane domains. It associates with FK506 binding protein 11.[1]
Clinical
Mutations in the gene are associated with osteogenesis imperfecta type 5.[2]
References
- ↑ Hanagata N, Li X (2011) Osteoblast-enriched membrane protein IFITM5 regulates the association of CD9 with an FKBP11-CD81-FPRP complex and stimulates expression of interferon-induced genes. Biochem Biophys Res Commun 409(3):378-384 doi: 10.1016/j.bbrc.2011.04.136
- ↑ Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, Iden S, Wirth B, Eysel P, Koerber F, Schoenau E, Bohlander SK, Wollnik B, Netzer C (2012) A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet 91(2):349-357 doi: 10.1016/j.ajhg.2012.06.011
