Espin, also known as autosomal recessive deafness type 36 protein or ectoplasmic specialization protein, is a protein that in humans is encoded by the ESPNgene.[5] Espin is a microfilament binding protein.
Espin is a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells.[5]
Clinical significanceedit
Mutations in this gene are associated with autosomal recessive neurosensory deafness, autosomal dominant sensorineural deafness without vestibular involvement, and DFNB36.[5]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000187017 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000028943 - 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.
Naz S, Griffith AJ, Riazuddin S, et al. (2004). "Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction". J. Med. Genet. 41 (8): 591–5. doi:10.1136/jmg.2004.018523. PMC1735855. PMID 15286153.
Boulouiz R, Li Y, Soualhine H, et al. (2008). "A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family". Am. J. Med. Genet. A. 146A (23): 3086–9. doi:10.1002/ajmg.a.32525. PMID 18973245. S2CID 33443367.
Cosetti M, Culang D, Kotla S, et al. (2008). "Unique transgenic animal model for hereditary hearing loss". Ann. Otol. Rhinol. Laryngol. 117 (11): 827–33. doi:10.1177/000348940811701106. PMC3409696. PMID 19102128.
Hosgood HD, Zhang L, Shen M, et al. (2009). "Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity". Occup Environ Med. 66 (12): 848–53. doi:10.1136/oem.2008.044024. PMC2928224. PMID 19773279.
Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Donaudy F, Zheng L, Ficarella R, et al. (2006). "Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation". J. Med. Genet. 43 (2): 157–61. doi:10.1136/jmg.2005.032086. PMC2564636. PMID 15930085.
Bartles JR, Zheng L, Li A, et al. (1998). "Small espin: a third actin-bundling protein and potential forked protein ortholog in brush border microvilli". J. Cell Biol. 143 (1): 107–19. doi:10.1083/jcb.143.1.107. PMC2132824. PMID 9763424.
Sekerková G, Loomis PA, Changyaleket B, et al. (2003). "Novel espin actin-bundling proteins are localized to Purkinje cell dendritic spines and bind the Src homology 3 adapter protein insulin receptor substrate p53". J. Neurosci. 23 (4): 1310–9. doi:10.1523/JNEUROSCI.23-04-01310.2003. PMC2854510. PMID 12598619.
Bartles JR, Wierda A, Zheng L (1996). "Identification and characterization of espin, an actin-binding protein localized to the F-actin-rich junctional plaques of Sertoli cell ectoplasmic specializations". J. Cell Sci. 109 (6): 1229–39. doi:10.1242/jcs.109.6.1229. PMID 8799813.
Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC311072. PMID 11230166.
Loomis PA, Kelly AE, Zheng L, et al. (2006). "Targeted wild-type and jerker espins reveal a novel, WH2-domain-dependent way to make actin bundles in cells". J. Cell Sci. 119 (Pt 8): 1655–65. doi:10.1242/jcs.02869. PMC2854011. PMID 16569662.
Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
Zheng L, Sekerková G, Vranich K, et al. (2000). "The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins". Cell. 102 (3): 377–85. doi:10.1016/S0092-8674(00)00042-8. PMC2850054. PMID 10975527.
Wan D, Gong Y, Qin W, et al. (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression". Proc. Natl. Acad. Sci. U.S.A. 101 (44): 15724–9. Bibcode:2004PNAS..10115724W. doi:10.1073/pnas.0404089101. PMC524842. PMID 15498874.
espin, protein, espin, also, known, autosomal, recessive, deafness, type, protein, ectoplasmic, specialization, protein, protein, that, humans, encoded, espn, gene, espin, microfilament, binding, protein, espnidentifiersaliasesespn, dfnb36, lp2654, espin, ush1. Espin also known as autosomal recessive deafness type 36 protein or ectoplasmic specialization protein is a protein that in humans is encoded by the ESPN gene 5 Espin is a microfilament binding protein ESPNIdentifiersAliasesESPN DFNB36 LP2654 Espin USH1MExternal IDsOMIM 606351 MGI 1861630 HomoloGene 23164 GeneCards ESPNGene location Human Chr Chromosome 1 human 1 Band1p36 31Start6 424 776 bp 1 End6 461 367 bp 1 Gene location Mouse Chr Chromosome 4 mouse 2 Band4 E2 4 82 9 cMStart152 204 788 bp 2 End152 236 828 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inright uterine tuberight lobe of liverskin of abdomenkidneyanterior pituitaryjejunal mucosaduodenumsural nervecorpus epididymisspermTop expressed ininterventricular septumintestinal villusyolk sacileumduodenumjejunumsacculecrypt of lieberkuhn of small intestinecolonproximal tubuleMore reference expression dataBioGPSn aGene ontologyMolecular functionSH3 domain binding actin binding actin filament bindingCellular componentmicrovillus cell projection cytoskeleton stereocilium cytoplasm filamentous actin brush border stereocilium tip actin cytoskeleton stereocilium bundleBiological processsensory perception of sound actin filament bundle assembly locomotory behavior parallel actin filament bundle assembly positive regulation of filopodium assembly negative regulation of cytoskeleton organizationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez8371556226EnsemblENSG00000187017ENSMUSG00000028943UniProtQ5JYL1Q9ET47RefSeq mRNA NM 031475NM 001367473NM 001367474NM 019585NM 207687NM 207688NM 207689NM 207690NM 207691RefSeq protein NP 113663NP 001354402NP 001354403NP 062531NP 997570NP 997571NP 997572NP 997573NP 997574Location UCSC Chr 1 6 42 6 46 MbChr 4 152 2 152 24 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical significance 3 References 4 Further reading 5 External linksFunction editEspin is a multifunctional actin bundling protein It plays a major role in regulating the organization dimensions dynamics and signaling capacities of the actin filament rich microvillus type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells 5 Clinical significance editMutations in this gene are associated with autosomal recessive neurosensory deafness autosomal dominant sensorineural deafness without vestibular involvement and DFNB36 5 References edit a b c GRCh38 Ensembl release 89 ENSG00000187017 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000028943 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 a b c Entrez Gene espin Further reading editNaz S Griffith AJ Riazuddin S et al 2004 Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction J Med Genet 41 8 591 5 doi 10 1136 jmg 2004 018523 PMC 1735855 PMID 15286153 Boulouiz R Li Y Soualhine H et al 2008 A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family Am J Med Genet A 146A 23 3086 9 doi 10 1002 ajmg a 32525 PMID 18973245 S2CID 33443367 Cosetti M Culang D Kotla S et al 2008 Unique transgenic animal model for hereditary hearing loss Ann Otol Rhinol Laryngol 117 11 827 33 doi 10 1177 000348940811701106 PMC 3409696 PMID 19102128 Hosgood HD Zhang L Shen M et al 2009 Association between genetic variants in VEGF ERCC3 and occupational benzene haematotoxicity Occup Environ Med 66 12 848 53 doi 10 1136 oem 2008 044024 PMC 2928224 PMID 19773279 Bonaldo MF Lennon G Soares MB 1996 Normalization and subtraction two approaches to facilitate gene discovery Genome Res 6 9 791 806 doi 10 1101 gr 6 9 791 PMID 8889548 Donaudy F Zheng L Ficarella R et al 2006 Espin gene ESPN mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation J Med Genet 43 2 157 61 doi 10 1136 jmg 2005 032086 PMC 2564636 PMID 15930085 Bartles JR Zheng L Li A et al 1998 Small espin a third actin bundling protein and potential forked protein ortholog in brush border microvilli J Cell Biol 143 1 107 19 doi 10 1083 jcb 143 1 107 PMC 2132824 PMID 9763424 Sekerkova G Loomis PA Changyaleket B et al 2003 Novel espin actin bundling proteins are localized to Purkinje cell dendritic spines and bind the Src homology 3 adapter protein insulin receptor substrate p53 J Neurosci 23 4 1310 9 doi 10 1523 JNEUROSCI 23 04 01310 2003 PMC 2854510 PMID 12598619 Bartles JR Wierda A Zheng L 1996 Identification and characterization of espin an actin binding protein localized to the F actin rich junctional plaques of Sertoli cell ectoplasmic specializations J Cell Sci 109 6 1229 39 doi 10 1242 jcs 109 6 1229 PMID 8799813 Wiemann S Weil B Wellenreuther R et al 2001 Toward a catalog of human genes and proteins sequencing and analysis of 500 novel complete protein coding human cDNAs Genome Res 11 3 422 35 doi 10 1101 gr GR1547R PMC 311072 PMID 11230166 Loomis PA Kelly AE Zheng L et al 2006 Targeted wild type and jerker espins reveal a novel WH2 domain dependent way to make actin bundles in cells J Cell Sci 119 Pt 8 1655 65 doi 10 1242 jcs 02869 PMC 2854011 PMID 16569662 Gregory SG Barlow KF McLay KE et al 2006 The DNA sequence and biological annotation of human chromosome 1 Nature 441 7091 315 21 Bibcode 2006Natur 441 315G doi 10 1038 nature04727 PMID 16710414 Zheng L Sekerkova G Vranich K et al 2000 The deaf jerker mouse has a mutation in the gene encoding the espin actin bundling proteins of hair cell stereocilia and lacks espins Cell 102 3 377 85 doi 10 1016 S0092 8674 00 00042 8 PMC 2850054 PMID 10975527 Wan D Gong Y Qin W et al 2004 Large scale cDNA transfection screening for genes related to cancer development and progression Proc Natl Acad Sci U S A 101 44 15724 9 Bibcode 2004PNAS 10115724W doi 10 1073 pnas 0404089101 PMC 524842 PMID 15498874 External links editespin protein human at the U S National Library of Medicine Medical Subject Headings MeSH This article incorporates text from the United States National Library of Medicine which is in the public domain nbsp This article on a gene on human chromosome 1 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Espin protein amp oldid 1081538751, wikipedia, wiki, book, books, library,
