| 1 | EPS8, ESPN, PLS1, USH1C |
| Absence of plastin 1 causes abnormal maintenance of hair cell stereocilia and a moderate form of hearing loss in mice. | |
| Taylor R, Bullen A, Johnson SL, Grimm-Günter EM, Rivero F, Marcotti W, Forge A, Daudet N. | |
| Hum Mol Genet 24(1):37-49. doi: 10.1093/hmg/ddu417. Epub 2014 Aug 14. 2015 | |
| 2 | ESPN |
| Characterization and regulation of an additional actin-filament-binding site in large isoforms of the stereocilia actin-bundling protein espin. | |
| Zheng L, Beeler DM, Bartles JR. | |
| J Cell Sci 127(Pt 6):1306-17. doi: 10.1242/jcs.143255. Epub 2014 Jan 14. Erratum in: J Cell Sci. 2015 Jun 1;128(11):2208. 2014 | |
| 3 | ESPN, MYO3A, MYO3B |
| Myosin IIIB uses an actin-binding motif in its espin-1 cargo to reach the tips of actin protrusions. | |
| Merritt RC, Manor U, Salles FT, Grati M, Dose AC, Unrath WC, Quintero OA, Yengo CM, Kachar B. | |
| Curr Biol 22(4):320-5. doi: 10.1016/j.cub.2011.12.053. Epub 2012 Jan 19. 2012 | |
| 4 | ESPN, MYO3A |
| Myosin IIIa boosts elongation of stereocilia by transporting espin 1 to the plus ends of actin filaments. | |
| Salles FT, Merritt RC Jr, Manor U, Dougherty GW, Sousa AD, Moore JE, Yengo CM, Dosé AC, Kachar B. | |
| Nat Cell Biol 11(4):443-50. doi: 10.1038/ncb1851. Epub 2009 Mar 15. 2009 | |
| 5 | DFNA26, DFNB36, ESPN |
| A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family. | |
| Boulouiz R, Li Y, Soualhine H, Abidi O, Chafik A, Nürnberg G, Becker C, Nürnberg P, Kubisch C, Wollnik B, Barakat A. | |
| Am J Med Genet A 146A(23):3086-9. No abstract available. 2008 | |
| 6 | ESPN |
| Espin actin-cytoskeletal proteins are in rat type I spiral ganglion neurons and include splice-isoforms with a functional nuclear localization signal. | |
| Sekerková G, Zheng L, Mugnaini E, Bartles JR. | |
| J Comp Neurol 509(6):661-76. doi: 10.1002/cne.21755. 2008 | |
| 7 | ESPN |
| Microvillar size and espin expression in principal cells of the adult rat epididymis are regulated by androgens. | |
| Primiani N, Gregory M, Dufresne J, Smith CE, Liu YL, Bartles JR, Cyr DG, Hermo L. | |
| J Androl 28(5):659-69. Epub 2007 Apr 4. 2007 | |
| 8 | ESPN, DFNB36, DFNA26 |
| Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation. | |
| Donaudy F, Zheng L, Ficarella R, Ballana E, Carella M, Melchionda S, Estivill X, Bartles JR, Gasparini P. | |
| J Med Genet 43(2):157-61. Epub 2005 Jun 1. 2006 | |
| 9 | ESPN |
| Targeted wild-type and jerker espins reveal a novel, WH2-domain-dependent way to make actin bundles in cells. | |
| Loomis PA, Kelly AE, Zheng L, Changyaleket B, Sekerková G, Mugnaini E, Ferreira A, Mullins RD, Bartles JR. | |
| J Cell Sci 119(Pt 8):1655-65. Epub 2006 Mar 28. 2006 | |
| 10 | ESPN, DFNB36, ESPNP |
| Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. | |
| Naz S, Griffith AJ, Riazuddin S, Hampton LL, Battey JF Jr, Khan SN, Riazuddin S, Wilcox ER, Friedman TB. | |
| J Med Genet 41(8):591-5. 2004 | |
| 11 | ESPN |
| Novel espin actin-bundling proteins are localized to Purkinje cell dendritic spines and bind the Src homology 3 adapter protein insulin receptor substrate p53. | |
| Sekerková G, Loomis PA, Changyaleket B, Zheng L, Eytan R, Chen B, Mugnaini E, Bartles JR. | |
| J Neurosci 23(4):1310-9. 2003 | |
| 12 | AIF1L, ANKHD1, ANKRD20A1, ANKRD27, ANKRD32, APH1B, APOLD1, ARMC4, ATXN10, C10orf10, C10orf10, C10orf118, C2orf14, C2orf16, C6orf60, C6orf62, C8orf71, CALCOCO1, CAMKK1, CCDC113, CCDC135, CCDC9, CCDC90B, CCNB2, CD99L2, CHPF, CLIC4, CLPB, CRELD1, CYBRD1, DDX47, DHRS7B, ESPN, FIP1L1, FLYWCH1, FYTTD1, GABARAPL1, GOLT1B, GPS2, GRIPAP1, HIGD1A, IER3IP1, KIF18A, KIRREL2, KLC2, LHX6, LMAN2L, MAF1, MED23, MIS12, MOB4, MYCBPAP, NCALD, NELF, NELFB, NRBF2, NRIP2, NRIP2, NRSN2, NUDT12, PCBD2, PMFBP1, PRPF31, PRSS23, QRSL1, RGMA, RGMB, RNF123, RNF146, RWDD3, SAMHD1, SECISBP2, SEMA4F, SERBP1, SERP1, SH3BP5L, SLC25A24, SLC25A39, SLC37A3, SLC41A2, SLC6A16, SMC6, SPEF1, STMN2, TARDBP, TBC1D3, TBL2, TFIP11, TIGD6, TIMMDC1, TMEM117, TMEM186, TNB, TRAF7, TRAPPC8, TSC22D3, TSPAN14, TWF2, UBA5, UNC50, WDR24, WDR37, WDR91, WSB1, YIPF3, ZC3H13, ZMYND12, ZMYND15, ZRANB3 |
| Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. | |
| Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A. | |
| Genome Res 11(3):422-35. 2001 | |
| 13 | ESPN |
| The deaf jerker mouse has a mutation in the gene encoding the espinactin-bundling proteins of hair cell stereocilia and lacks espins. | |
| Zheng L, Sekerkova G, Vranich K, Tilney LG, Mugnaini E, Bartles JR. | |
| Cell 102(3):377-85. 2000 | |
| 14 | ADIPOR1, AIG1, AMDHD2, ANKHD1, ANKRD20A1, ANKRD27, ANKRD32, APH1A, APH1B, APIP, APOLD1, ARS2, ASCC1, ATXN10, BOLA1, C10orf10, C14orf166, C19orf56, C20orf109, C20orf4, C2orf14, C2orf16, C6orf60, C6orf62, CALCOCO1, CAMKK1, CCDC113, CCDC53, CCDC9, CCNB2, CD99L2, CDK5RAP1, CDK5RAP1, CGI-96, CHMP5, CHPF, CIAO2B, CLIC4, CLPB, COPZ1, COQ4, COQ6, CRELD1, CUTC, CYBRD1, DDX47, DERA, DHRS7, DHRS7B, DHRS7B, DPH5, DTNB, DYNC1LI2, EEF1AKNMT, ELOVL1, EMC9, ERGIC3, ESPN, EXOSC1, EXOSC3, FAHD2A, FAM108B1, FAM18B, FAM32A, FAM82B, FCF1, FIP1L1, FLYWCH1, FYTTD1, GABARAPL1, GET4, GLOD4, GLRX2, GOLT1B, GOLT1B, GPR89A, GPS2, GRIPAP1, HDDC2, HDGFRP3, HIGD1A, IER3IP1, IFT52, ISOC1, KIF18A, KIF20B, KIRREL2, KL3, KLC2, LACTB2, LHX6, LMAN2L, LUC7L2, MAF1, MAGMAS, MECR, MED23, MED31, MEMO, METTL9, MIS12, MOABHD5, MOB4, MPC1, MRPL11, MRPL2, MRPL4, MRPL48, MRPS15, MRPS16, MRPS16P2, MRPS18C, MRPS23, MRPS33, MTCH1, MTERF3, MTO1, MYCBPAP, NCALD, NCIE2, NDUFAF1, NELF, NELFB, NFU1, NMD3, NOSIP, NRBF2, NRIP2, NRIP2, NRSN2, NUDT12, OTUD6B, PARVB, PCBD2, PHF20L1, PIGT, PMFBP1, PNAS-4, PRPF31, PRSS23, PTRH2, QRSL1, RBMX2, RGMA, RGMB, RNF103-CHMP3, RNF123, RNF146, RRNAD1, RRP15, RWDD1, RWDD3, SAMHD1, SAMM50, SCCPDH, SECISBP2, SEMA4F, SERBP1, SERBP1, SERP1, SH3BP5L, SIDT2, SLC25A24, SLC25A39, SLC35C2, SLC37A3, SLC41A2, SLC6A16, SLMO2, SMC6, SPEF1, SQRDL, STARD10, STMN2, SYF2, TARDBP, TBC1D3, TBL2, TFB1M, TFIP11, THAP4, THAP4, TIGD6, TIMMDC1, TMED5, TMED7, TMEM47, TPPP3, TRAF7, TRAPPC12, TRAPPC4, TRMT6, TRNT1, TSC22D3, TSPAN14, TWF2, UBE1DC1, UBE2J1, UCHL5, UNC50, USP39, UTP11L, VPS36, WDR37, WDR50, WDR91, WSB1, YARS2, YIPF3, YPEL5, ZC2HC1A, ZC3H13, ZDHHC9, ZMYND12, ZMYND15, ZRANB3 |
| Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. | |
| Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W. | |
| Genome Res 10(5):703-13. 2000 | |
| 15 | ESPN |
| Espin contains an additional actin-binding site in its N terminus and is a major actin-bundling protein of the Sertoli cell-spermatid ectoplasmic specialization junctional plaque. | |
| Chen B, Li A, Wang D, Wang M, Zheng L, Bartles JR. | |
| Mol Biol Cell 10(12):4327-39. 1999 | |
| 16 | ESPN |
| Small espin: a third actin-bundling protein and potential forked protein ortholog in brush border microvilli. | |
| Bartles JR, Zheng L, Li A, Wierda A, Chen B. | |
| J Cell Biol 143(1):107-19. 1998 | |
| 17 | ESPN |
| Identification and characterization of espin, an actin-binding protein localized to the F-actin-rich junctional plaques of Sertoli cell ectoplasmic specializations. | |
| Bartles JR, Wierda A, Zheng L. | |
| J Cell Sci 109 ( Pt 6):1229-39. 1996 | |