Amiokiselininska sekvenca
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Dužina polipeptidnog lanca je 854 aminokiseline , a molekulska težina Da . 91 733[2]
10 20 30 40 50 MALEQALQAA RQGELDVLRS LHAAGLLGPS LRDPLDALPV HHAARAGKLH CLRFLVEEAA LPAAARARNG ATPAHDASAT GHLACLQWLL SQGGCRVQDK DNSGATVLHL AARFGHPEVV NWLLHHGGGD PTAATDMGAL PIHYAAAKGD FPSLRLLVEH YPEGVNAQTK NGATPLYLAC QEGHLEVTQY LVQECGADPH ARAHDGMTPL HAAAQMGHSP VIVWLVSCTD VSLSEQDKDG ATAMHFAASR GHTKVLSWLL LHGGEISADL WGGTPLHDAA ENGELECCQI LVVNGAELDV RDRDGYTAAD LSDFNGHSHC TRYLRTVENL SVEHRVLSRD PSAELEAKQP DSGMSSPNTT VSVQPLNFDL SSPTSTLSNY DSCSSSHSSI KGQHPPCGLS SARAADIQSY MDMLNPELGL PRGTIGKPTP PPPPPSFPPP PPPPGTQLPP PPPGYPAPKP PVGPQAADIY MQTKNKLRHV ETEALKKELS SCDGHDGLRR QDSSRKPRAF SKQPSTGDYY RQLGRCPGET LAARPGMAHS EEVRARQPAR AGCPRLGPAA RGSLEGPSAP PQAALLPGNH VPNGCAADPK ASRELPPPPP PPPPPLPEAA SSPPPAPPLP LESAGPGCGQ RRSSSSTGST KSFNMMSPTG DNSELLAEIK AGKSLKPTPQ SKGLTTVFSG IGQPAFQPDS PLPSVSPALS PVRSPTPPAA GFQPLLNGSL VPVPPTTPAP GVQLDVEALI PTHDEQGRPI PEWKRQVMVR KMQLKMQEEE EQRRKEEEEE ARLASMPAWR RDLLRKKLEE EREQKRKEEE RQKQEELRRE KEQSEKLRTL GYDESKLAPW QRQVILKKGD IAKY
Espin je multifunkcionalni protein koji povezuje aktin . Ima glavnu ulogu u regulaciji organizacije, dimenzija, dinamike i signalnih kapaciteta specijalizacija tipa mikrovilusa bogatih aktinskim filamentima koji posreduju u senzornoj transdukciji u različitim mehanosenzornim i hemosenzornim ćelijama.[1]
Klinički značaj
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Mutacije ovog gena su povezane sa autosomno recesivnom neurosenzornom gluhoćom, autosomno dominantnom senzornervnom gluhoćom bez vestibulnog zahvata i DFNB36 .[1]
Dopunska literatura
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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 . 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 . 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 . 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, 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 . 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 .
Vanjski linkovi
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