Interferon-induced transmembrane protein 5

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)
End	299,526 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	140,530,204 bp
RNA expression pattern
	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
	n/a
Orthologs
	387733
	73835
	ENSG00000206013
	ENSMUSG00000025489
	A6NNB3
	O88728
	NM_001025295
	NM_053088
	NP_001020466
	NP_444318
	Wikidata
View/Edit Human	View/Edit Mouse

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.^[5]

Clinical

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

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000206013 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000025489 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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 (August 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". American Journal of Human Genetics. 91 (2): 349–57. doi:10.1016/j.ajhg.2012.06.011. PMC 3415541. PMID 22863195.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000206013 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000025489 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Hanagata2011-5] 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.

[Semler2012-6] 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 (August 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". American Journal of Human Genetics. 91 (2): 349–57. doi:10.1016/j.ajhg.2012.06.011. PMC 3415541. PMID 22863195.

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