OTOR

Otoraplin is a protein that in humans is encoded by the OTOR gene.[5][6]

OTOR
Identifiers
Aliases	OTOR, FDP, MIAL1, otoraplin
External IDs	OMIM: 606067 MGI: 1888678 HomoloGene: 10600 GeneCards: OTOR
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20p12.1 Start 16,748,358 bp[1] End 16,770,062 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 G1 Start 143,078,473 bp[2] End 143,081,713 bp[2]
RNA expression pattern More reference expression data
Orthologs
Species	Human	Mouse
Entrez	56914	57329
Ensembl	ENSG00000125879	ENSMUSG00000027416
UniProt	Q9NRC9	Q9JIE3
RefSeq (mRNA)	NM_020157	NM_020595
RefSeq (protein)	NP_064542	NP_065620
Location (UCSC)	Chr 20: 16.75 – 16.77 Mb	Chr 2: 143.08 – 143.08 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000125879 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000027416 - 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. Robertson NG, Heller S, Lin JS, Resendes BL, Weremowicz S, Denis CS, Bell AM, Hudspeth AJ, Morton CC (Sep 2000). "A novel conserved cochlear gene, OTOR: identification, expression analysis, and chromosomal mapping". Genomics. 66 (3): 242–8. CiteSeerX 10.1.1.327.2446. doi:10.1006/geno.2000.6224. PMID 10873378.
6. "Entrez Gene: OTOR otoraplin".

Further reading

• Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA, et al. (1995). "Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening". Genomics. 23 (1): 42–50. doi:10.1006/geno.1994.1457. PMID 7829101.
• Cohen-Salmon M, Frenz D, Liu W, et al. (2001). "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. doi:10.1074/jbc.M002876200. PMID 10998416.
• Rendtorff ND, Frödin M, Attié-Bitach T, et al. (2001). "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. CiteSeerX 10.1.1.418.1999. doi:10.1006/geno.2000.6409. PMID 11161796.
• Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Clark HF, Gurney AL, Abaya E, et al. (2003). "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. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
• Zhang Z, Henzel WJ (2005). "Signal peptide prediction based on analysis of experimentally verified cleavage sites". Protein Sci. 13 (10): 2819–24. doi:10.1110/ps.04682504. PMC 2286551. PMID 15340161.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.