Interferon-induced transmembrane protein 5

IFITM5
Identifiers
AliasesIFITM5, interferon induced transmembrane protein 5, BRIL, DSPA1, Hrmp1, OI5, fragilis4
External IDsOMIM: 614757 MGI: 1934923 HomoloGene: 14210 GeneCards: IFITM5
Orthologs
SpeciesHumanMouse
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 MbChr 7: 140.95 – 140.95 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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.

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.[5]

Clinical

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

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000206013 - Ensembl, May 2017
  2. 1 2 3 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.
  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.
  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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