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Interferon-induced transmembrane protein 5

From Wikipedia, the free encyclopedia
(Redirected from BRIL)
IFITM5
Identifiers
AliasesIFITM5, interferon induced transmembrane protein 5, BRIL, DSPA1, Hrmp1, OI5, fragilis4
External IDsOMIM: 614757; MGI: 1934923; HomoloGene: 14210; GeneCards: IFITM5; OMA:IFITM5 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001025295

NM_053088

RefSeq (protein)

NP_001020466

NP_444318

Location (UCSC)Chr 11: 0.3 – 0.3 MbChr 7: 140.53 – 140.53 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

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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

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

Biochemistry

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

Clinical

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000206013Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025489Ensembl, 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.