Interferon-induced transmembrane protein 5

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)[1]
Chromosome 11 (human)
Genomic location for IFITM5
Genomic location for IFITM5
Band11p15.5Start298,200 bp[1]
End299,526 bp[1]
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)[2]
Chromosome 7 (mouse)
Genomic location for IFITM5
Genomic location for IFITM5
Band7|7 F5Start140,528,871 bp[2]
End140,530,204 bp[2]
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[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. [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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000206013 – Ensembl, May 2017
  2. ^ a b c 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.