| IFITM5 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | IFITM5 , interferon induced transmembrane protein 5, BRIL, DSPA1, Hrmp1, OI5, fragilis4 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 614757 MGI: 1934923 HomoloGene: 14210 GeneCards: IFITM5 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Interferon-induced transmembrane protein 5 is a gene that encodes a membrane protein thought to play a role in bone mineralization.
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 ]
The gene first appeared in bony fish and its bone specific expression appears to be limited to therian mammals.[ citation needed ]
The protein has two transmembrane domains. It associates with FK506 binding protein 11. [5]
Mutations in the gene are associated with osteogenesis imperfecta type 5. [6]
Collagen, type I, alpha 1, also known as alpha-1 type I collagen, is a protein that in humans is encoded by the COL1A1 gene. COL1A1 encodes the major component of type I collagen, the fibrillar collagen found in most connective tissues, including cartilage.
Bone morphogenetic protein 6 is a protein that in humans is encoded by the BMP6 gene.
Cartilage associated protein is a protein that in humans is encoded by the CRTAP gene.
Leukocyte surface antigen CD53 is a protein that in humans is encoded by the CD53 gene.
Collagen alpha-2(I) chain is a protein that in humans is encoded by the COL1A2 gene.
Frizzled-1(Fz-1) is a protein that in humans is encoded by the FZD1 gene.
Frizzled-7(Fd-7) is a protein that in humans is encoded by the FZD7 gene.
Cadherin EGF LAG seven-pass G-type receptor 1 also known as flamingo homolog 2 or cadherin family member 9 is a protein that in humans is encoded by the CELSR1 gene.
Progressive ankylosis protein homolog is a protein that in humans is encoded by the ANKH gene.
Dentin matrix acidic phosphoprotein 1 is a protein that in humans is encoded by the DMP1 gene.
Homeobox protein DLX-3 is a protein that in humans is encoded by the DLX3 gene.
DnaJ homolog subfamily C member 3 is a protein that in humans is encoded by the DNAJC3 gene.
Interferon-induced transmembrane protein 1 is a protein that in humans is encoded by the IFITM1 gene. IFITM1 has also recently been designated CD225. This protein has several additional names: fragilis, IFI17 [interferon-induced protein 17], 9-27 [Interferon-inducible protein 9-27] and Leu13.
Interferon-induced transmembrane protein 3 (IFITM3) is a protein that in humans is encoded by the IFITM3 gene. It plays a critical role in the immune system's defense against Swine Flu, where heightened levels of IFITM3 keep viral levels low, and the removal of IFITM3 allows the virus to multiply unchecked. This observation has been further advanced by a recent study from Paul Kellam's lab that shows that a single nucleotide polymorphism in the human IFITM3 gene purported to increase influenza susceptibility is overrepresented in people hospitalised with pandemic H1N1. The prevalence of this mutation is thought to be approximately 1/400 in European populations.
Transcription factor Sp7, also called osterix (Osx), is a protein that in humans is encoded by the SP7 gene. It is a member of the Sp family of zinc-finger transcription factors It is highly conserved among bone-forming vertebrate species It plays a major role, along with Runx2 and Dlx5 in driving the differentiation of mesenchymal precursor cells into osteoblasts and eventually osteocytes. Sp7 also plays a regulatory role by inhibiting chondrocyte differentiation maintaining the balance between differentiation of mesenchymal precursor cells into ossified bone or cartilage. Mutations of this gene have been associated with multiple dysfunctional bone phenotypes in vertebrates. During development, a mouse embryo model with Sp7 expression knocked out had no formation of bone tissue. Through the use of GWAS studies, the Sp7 locus in humans has been strongly associated with bone mass density. In addition there is significant genetic evidence for its role in diseases such as Osteogenesis imperfecta (OI).
Endoplasmic reticulum-Golgi intermediate compartment protein 2 (ERGIC2) is a gene located on human chromosome 12p11. It encodes a protein of 377 amino acid residues. ERGIC2 protein is also known as PTX1, CDA14 or Erv41.
BMP-2-inducible protein kinase is an enzyme in humans encoded by the BMP2K gene.
Unc-93 homolog B1 , also known as UNC93B1, is a protein which in humans is encoded by the UNC93B1 gene.
Interferon-induced transmembrane protein 2 is a protein that in humans is encoded by the IFITM2 gene. IFITM1 is a member of the IFITM family which is encoded by IFITM genes.
Trimeric intracellular cation-selective channel B (TRIC-B) is a monovalent cation channel in the ER membrane encoded by the transmembrane protein 38B (TMEM38B) gene. It is one of two known TRIC proteins, the other being TRIC-A.
