OTOR explained
Otoraplin is a protein that in humans is encoded by the OTOR gene.[1] [2]
The protein encoded by this gene is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequent polymorphism in the translation start codon of this gene can abolish translation and may be associated with forms of deafness. This gene is a member of the melanoma-inhibiting activity gene family. In addition, alternate polyA sites exist for this gene.[3]
Further reading
- Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA, etal . Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. . Genomics . 23 . 1 . 42–50 . 1995 . 7829101 . 10.1006/geno.1994.1457 .
- Cohen-Salmon M, Frenz D, Liu W, etal . Fdp, a new fibrocyte-derived protein related to MIA/CD-RAP, has an in vitro effect on the early differentiation of the inner ear mesenchyme. . J. Biol. Chem. . 275 . 51 . 40036–41 . 2001 . 10998416 . 10.1074/jbc.M002876200 . free .
- Rendtorff ND, Frödin M, Attié-Bitach T, etal . Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation. . Genomics . 71 . 1 . 40–52 . 2001 . 11161796 . 10.1006/geno.2000.6409 . 10.1.1.418.1999 .
- Deloukas P, Matthews LH, Ashurst J, etal . The DNA sequence and comparative analysis of human chromosome 20. . Nature . 414 . 6866 . 865–71 . 2002 . 11780052 . 10.1038/414865a . 2001Natur.414..865D . free .
- Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
- Clark HF, Gurney AL, Abaya E, etal . The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. . Genome Res. . 13 . 10 . 2265–70 . 2003 . 12975309 . 10.1101/gr.1293003 . 403697 .
- Zhang Z, Henzel WJ . Signal peptide prediction based on analysis of experimentally verified cleavage sites. . Protein Sci. . 13 . 10 . 2819–24 . 2005 . 15340161 . 10.1110/ps.04682504 . 2286551 .
- Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
Notes and References
- Robertson NG, Heller S, Lin JS, Resendes BL, Weremowicz S, Denis CS, Bell AM, Hudspeth AJ, Morton CC . A novel conserved cochlear gene, OTOR: identification, expression analysis, and chromosomal mapping . Genomics . 66 . 3 . 242–8 . Sep 2000 . 10873378 . 10.1006/geno.2000.6224 . 10.1.1.327.2446 .
- Web site: Entrez Gene: OTOR otoraplin.
- Web site: Entrez Gene: OTOR otoraplin.
