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OTOR

Identifiers

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]
Band	20p12.1	End	16,770,062 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 2 (mouse)^[2]

Band	2\|2 G1	Start	142,920,393 bp^[2]
Band	2\|2 G1	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

^ ^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.

This page was last edited on 20 February 2024, at 23:13

OTOR

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References

Further reading