Interferon induced transmembrane protein 5

IFITM5
Identifiers
Aliases IFITM5, interferon induced transmembrane protein 5, BRIL, DSPA1, Hrmp1, OI5, fragilis4
External IDs MGI: 1934923 HomoloGene: 14210 GeneCards: IFITM5
Orthologs
Species Human Mouse
Entrez

387733

73835

Ensembl

ENSG00000206013

ENSMUSG00000025489

UniProt

A6NNB3

O88728

RefSeq (mRNA)

NM_001025295

NM_053088

RefSeq (protein)

NP_001020466.1

NP_444318.1

Location (UCSC) Chr 11: 0.3 – 0.3 Mb Chr 7: 140.95 – 140.95 Mb
PubMed search [1] [2]
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.[3]

Clinical

Mutations in the gene are associated with osteogenesis imperfecta type 5.[4]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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
  4. 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
This article is issued from Wikipedia - version of the 5/20/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.