OTOR

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 142,920,393 bp [2] End 142,923,633 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cochlea embryo renal cortex ganglionic eminence mesencephalon liver gallbladder substantia nigra urinary bladder stomach Top expressed in utricle fossa intercostal muscle stria vascularis condyle trachea cochlea trigeminal ganglion saccule substantia nigra More reference expression data BioGPS 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: 142.92 – 142.92 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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" (PDF). 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. Bibcode:2001Natur.414..865D. 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. Bibcode:2002PNAS...9916899M. 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.