Interferon-Induced Transmembrane Protein 5

Short description: Protein-coding gene in the species Homo sapiens

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. ^{[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.^[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. PMID 21600883.
↑ "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". American Journal of Human Genetics 91 (2): 349–57. August 2012. doi:10.1016/j.ajhg.2012.06.011. PMID 22863195.

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[Hanagata2011-1] 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. PMID 21600883.

[Semler2012-2] "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". American Journal of Human Genetics 91 (2): 349–57. August 2012. doi:10.1016/j.ajhg.2012.06.011. PMID 22863195.