Espin (protein) explained

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.^[1] Espin is a microfilament binding protein.

Function

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.^[1]

Clinical significance

Mutations in this gene are associated with autosomal recessive neurosensory deafness, autosomal dominant sensorineural deafness without vestibular involvement, and DFNB36.^[1]

Further reading

• Naz S . Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction . J. Med. Genet. . 41 . 8 . 591–5 . 2004 . 15286153 . 10.1136/jmg.2004.018523 . vanc. Griffith AJ . Riazuddin S . 3 . Hampton . LL . Battey Jr . JF . Khan . SN . Riazuddin . S . Wilcox . ER . Friedman . TB . 1735855 .
• Boulouiz R . 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 . 2008 . 18973245 . 10.1002/ajmg.a.32525 . vanc. Li Y . Soualhine H . 3 . Abidi . Omar . Chafik . Abdelaziz . Nürnberg . Gudrun . Becker . Christian . Nürnberg . Peter . Kubisch . Christian . 33443367 .
• Cosetti M . Unique transgenic animal model for hereditary hearing loss . Ann. Otol. Rhinol. Laryngol. . 117 . 11 . 827–33 . 2008 . 19102128 . 10.1177/000348940811701106. vanc. Culang D . Kotla S . 3 . O'Brien . P . Eberl . DF . Hannan . F . 3409696.
• Hosgood HD . Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity . Occup Environ Med . 66 . 12 . 848–53 . 2009 . 19773279 . 10.1136/oem.2008.044024 . 2928224 . vanc. Zhang L . Shen M . 3 . Berndt . S I . Vermeulen . R . Li . G . Yin . S . Yeager . M . Yuenger . J.
• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery . Genome Res. . 6 . 9 . 791–806 . 1996 . 8889548 . 10.1101/gr.6.9.791. free .
• Donaudy F . Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation . J. Med. Genet. . 43 . 2 . 157–61 . 2006 . 15930085 . 10.1136/jmg.2005.032086 . vanc. Zheng L . Ficarella R . 3 . Ballana . E . Carella . M . Melchionda . S . Estivill . X . Bartles . JR . Gasparini . P . 2564636 .
• Bartles JR . Small espin: a third actin-bundling protein and potential forked protein ortholog in brush border microvilli . J. Cell Biol. . 143 . 1 . 107–19 . 1998 . 9763424 . 10.1083/jcb.143.1.107 . vanc. Zheng L . Li A . 3 . Wierda . A . Chen . B . 2132824 .
• Sekerková G . 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 . 2003 . 12598619 . 10.1523/JNEUROSCI.23-04-01310.2003. 2854510 . vanc. Loomis PA . Changyaleket B . 3 . Zheng . L . Eytan . R . Chen . B . Mugnaini . E . Bartles . JR.
• Bartles JR, Wierda A, Zheng L . 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 . 1996 . 10.1242/jcs.109.6.1229 . 8799813 .
• Wiemann S . 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 . 2001 . 11230166 . 10.1101/gr.GR1547R . 311072 . vanc. Weil B . Wellenreuther R . 3 . Gassenhuber . J . Glassl . S . Ansorge . W . Böcher . M . Blöcker . H . Bauersachs . S.
• Loomis PA . 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 . 2006 . 16569662 . 10.1242/jcs.02869 . vanc. Kelly AE . Zheng L . 3 . Changyaleket . B . Sekerková . G . Mugnaini . E . Ferreira . A . Mullins . RD . Bartles . JR . 2854011 .
• Gregory SG . The DNA sequence and biological annotation of human chromosome 1 . Nature . 441 . 7091 . 315–21 . 2006 . 16710414 . 10.1038/nature04727 . vanc. Barlow KF . McLay KE . 3 . Kaul . R. . Swarbreck . D. . Dunham . A. . Scott . C. E. . Howe . K. L. . Woodfine . K. . 2006Natur.441..315G . free .
• Zheng L . 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 . 2000 . 10975527 . 10.1016/S0092-8674(00)00042-8 . vanc. Sekerková G . Vranich K . 3 . Tilney . LG . Mugnaini . E . Bartles . JR . 2850054 .
• Wan D . Large-scale cDNA transfection screening for genes related to cancer development and progression . Proc. Natl. Acad. Sci. U.S.A. . 101 . 44 . 15724–9 . 2004 . 15498874 . 10.1073/pnas.0404089101 . 524842 . vanc. Gong Y . Qin W . 3 . Zhang . P . Li . J . Wei . L . Zhou . X . Li . H . Qiu . X. 2004PNAS..10115724W . free .

Notes and References

1. Web site: Entrez Gene: espin.