OTOF
| Otoferlin | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | OTOF ; AUNB1; DFNB6; DFNB9; FER1L2; NSRD9 | ||||||||||||
| External IDs | OMIM: 603681 MGI: 1891247 HomoloGene: 12892 GeneCards: OTOF Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 9381 | 83762 | |||||||||||
| Ensembl | ENSG00000115155 | ENSMUSG00000062372 | |||||||||||
| UniProt | Q9HC10 | Q9ESF1 | |||||||||||
| RefSeq (mRNA) | NM_001287489 | NM_001100395 | |||||||||||
| RefSeq (protein) | NP_001274418 | NP_001093865 | |||||||||||
| Location (UCSC) |
Chr 2: 26.46 – 26.56 Mb |
Chr 5: 30.37 – 30.46 Mb | |||||||||||
| PubMed search | |||||||||||||
Otoferlin is a protein that in humans is encoded by the OTOF gene.[1][2][3]
Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has three C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has six C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene.[3]
References
- ↑ Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C (Apr 1999). "A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness". Nat Genet 21 (4): 363–9. doi:10.1038/7693. PMID 10192385.
- ↑ Rodriguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Meda C, Curet C, Volter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedin S, Smith J, Cruz Tapia M, Cavalle L, Gelvez N, Primignani P, Gomez-Rosas E, Martin M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I (May 2008). "A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy". Hum Mutat 29 (6): 823–31. doi:10.1002/humu.20708. PMID 18381613.
- 1 2 "Entrez Gene: OTOF otoferlin".
External links
Further reading
- Fukushima K, Ramesh A, Srisailapathy CR, et al. (1996). "An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6". Genome Res. 5 (3): 305–8. doi:10.1101/gr.5.3.305. PMID 8593615.
- Yasunaga S, Petit C (2000). "Physical map of the region surrounding the OTOFERLIN locus on chromosome 2p22-p23". Genomics 66 (1): 110–2. doi:10.1006/geno.2000.6185. PMID 10843812.
- Adato A, Raskin L, Petit C, Bonne-Tamir B (2000). "Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus". Eur. J. Hum. Genet. 8 (6): 437–42. doi:10.1038/sj.ejhg.5200489. PMID 10878664.
- Yasunaga S, Grati M, Chardenoux S, et al. (2000). "OTOF Encodes Multiple Long and Short Isoforms: Genetic Evidence That the Long Ones Underlie Recessive Deafness DFNB9". Am. J. Hum. Genet. 67 (3): 591–600. doi:10.1086/303049. PMC 1287519. PMID 10903124.
- Migliosi V, Modamio-Høybjør S, Moreno-Pelayo MA, et al. (2002). "Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss". J. Med. Genet. 39 (7): 502–6. doi:10.1136/jmg.39.7.502. PMC 1735186. PMID 12114484.
- Mirghomizadeh F, Pfister M, Apaydin F, et al. (2002). "Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness". Neurobiol. Dis. 10 (2): 157–64. doi:10.1006/nbdi.2002.0488. PMID 12127154.
- Mirghomizadeh F, Pfister M, Blin N, Pusch CM (2003). "Uncommon cytidine-homopolymer dimorphism in 5'-UTR of the human otoferlin gene". Int. J. Mol. Med. 11 (1): 63–4. doi:10.3892/ijmm.11.1.63. PMID 12469219.
- Varga R, Kelley PM, Keats BJ, et al. (2003). "Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene". J. Med. Genet. 40 (1): 45–50. doi:10.1136/jmg.40.1.45. PMC 1735255. PMID 12525542.
- Piechotta K, Garbarini N, England R, Delpire E (2004). "Characterization of the interaction of the stress kinase SPAK with the Na+-K+-2Cl− cotransporter in the nervous system: evidence for a scaffolding role of the kinase". J. Biol. Chem. 278 (52): 52848–56. doi:10.1074/jbc.M309436200. PMID 14563843.
- Varga R, Avenarius MR, Kelley PM, et al. (2006). "OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele". J. Med. Genet. 43 (7): 576–81. doi:10.1136/jmg.2005.038612. PMC 2593030. PMID 16371502.
- Roux I, Safieddine S, Nouvian R, et al. (2006). "Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse". Cell 127 (2): 277–89. doi:10.1016/j.cell.2006.08.040. PMID 17055430.
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