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Interferon-induced transmembrane protein 5

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(Redirected from Bone-restricted interferon-induced transmembrane protein) Protein-coding gene in the species Homo sapiens
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
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)
Chromosome 11 (human)Genomic location for IFITM5Genomic location for IFITM5
Band11p15.5Start298,200 bp
End299,526 bp
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)
Chromosome 7 (mouse)Genomic location for IFITM5Genomic location for IFITM5
Band7|7 F5Start140,528,871 bp
End140,530,204 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
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
BioGPS
n/a
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: 140.53 – 140.53 Mb
PubMed search
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.

Clinical

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

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000206013 – Ensembl, May 2017
  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.
  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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