OTOR

OTOR
Identifiers
Aliases	OTOR, FDP, MIAL1, otoraplin
External IDs	OMIM: 606067; MGI: 1888678; HomoloGene: 10600; GeneCards: OTOR; OMA:OTOR - orthologs
Gene location (Human)
Chr.	Chromosome 20 (human)
End	16,770,062 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	142,923,633 bp
RNA expression pattern
	Top expressed in
	cochlea; ; gonad; ; Ventricular system of neuraxis; ; embryo; ; ventricular zone; ; renal cortex; ; ganglionic eminence; ; mesencephalon; ; liver; ; gallbladder;
	Top expressed in
	vestibular sensory epithelium; ; utricle; ; fossa; ; intercostal muscle; ; stria vascularis; ; condyle; ; vestibular membrane of cochlear duct; ; trachea; ; cochlea; ; trigeminal ganglion;
	More reference expression data
	More reference expression data
Orthologs
	56914
	57329
	ENSG00000125879
	ENSMUSG00000027416
	Q9NRC9
	Q9JIE3
	NM_020157
	NM_020595
	NP_064542
	NP_065620
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000125879 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000027416 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: OTOR otoraplin".

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.

This article on a gene on human chromosome 20 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000125879 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid10873378-5] 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.

[entrez-6] "Entrez Gene: OTOR otoraplin".

[1]

[2]

[3]

[4]

[5]

[6]

References

Further reading