Gene name: ESPN

Uniprot entry:

B1AK53

Protein names:

Espin (Autosomal recessive deafness type 36 protein) (Ectoplasmic specialization protein)

Protein sequence:

1_MALEQ 6_ ALQAA 11_ RQGEL 16_ DVLRS 21_ LHAAG 26_ LLGPS 31_ LRDPL 36_ DALPV 41_ HHAAR 46_ AGKLH 51_ CLRFL 56_ VEEAA 61_ LPAAA 66_ RARNG 71_ ATPAH 76_ DASAT 81_ GHLAC 86_ LQWLL 91_ SQGGC 96_ RVQDK 101_ DNSGA 106_ TVLHL 111_ AARFG 116_ HPEVV 121_ NWLLH 126_ HGGGD 131_ PTAAT 136_ DMGAL 141_ PIHYA 146_ AAKGD 151_ FPSLR 156_ LLVEH 161_ YPEGV 166_ NAQTK 171_ NGATP 176_ LYLAC 181_ QEGHL 186_ EVTQY 191_ LVQEC 196_ GADPH 201_ ARAHD 206_ GMTPL 211_ HAAAQ 216_ MGHSP 221_ VIVWL 226_ VSCTD 231_ VSLSE 236_ QDKDG 241_ ATAMH 246_ FAASR 251_ GHTKV 256_ LSWLL 261_ LHGGE 266_ ISADL 271_ WGGTP 276_ LHDAA 281_ ENGEL 286_ ECCQI 291_ LVVNG 296_ AELDV 301_ RDRDG 306_ YTAAD 311_ LSDFN 316_ GHSHC 321_ TRYLR 326_ TVENL 331_ SVEHR 336_ VLSRD 341_ PSAEL 346_ EAKQP 351_ DSGMS 356_ SPNTT 361_ VSVQP 366_ LNFDL 371_ SSPTS 376_ TLSNY 381_ DSCSS 386_ SHSSI 391_ KGQHP 396_ PCGLS 401_ SARAA 406_ DIQSY 411_ MDMLN 416_ PELGL 421_ PRGTI 426_ GKPTP 431_ PPPPP 436_ SFPPP 441_ PPPPG 446_ TQLPP 451_ PPPGY 456_ PAPKP 461_ PVGPQ 466_ AADIY 471_ MQTKN 476_ KLRHV 481_ ETEAL 486_ KKELS 491_ SCDGH 496_ DGLRR 501_ QDSSR 506_ KPRAF 511_ SKQPS 516_ TGDYY 521_ RQLGR 526_ CPGET 531_ LAARP 536_ GMAHS 541_ EEVRA 546_ RQPAR 551_ AGCPR 556_ LGPAA 561_ RGSLE 566_ GPSAP 571_ PQAAL 576_ LPGNH 581_ VPNGC 586_ AADPK 591_ ASREL 596_ PPPPP 601_ PPPPP 606_ LPEAA 611_ SSPPP 616_ APPLP 621_ LESAG 626_ PGCGQ 631_ RRSSS 636_ STGST 641_ KSFNM 646_ MSPTG 651_ DNSEL 656_ LAEIK 661_ AGKSL 666_ KPTPQ 671_ SKGLT 676_ TVFSG 681_ IGQPA 686_ FQPDS 691_ PLPSV 696_ SPALS 701_ PVRSP 706_ TPPAA 711_ GFQPL 716_ LNGSL 721_ VPVPP 726_ TTPAP 731_ GVQLD 736_ VEALI 741_ PTHDE 746_ QGRPI 751_ PEWKR 756_ QVMVR 761_ KMQLK 766_ MQEEE 771_ EQRRK 776_ EEEEE 781_ ARLAS 786_ MPAWR 791_ RDLLR 796_ KKLEE 801_ EREQK 806_ RKEEE 811_ RQKQE 816_ ELRRE 821_ KEQSE 826_ KLRTL 831_ GYDES 836_ KLAPW 841_ QRQVI 846_LKKGD

Protein annotations

Protein functions:

1: Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimension, dynamics and signaling capacities of the actin filament-rich microvilli in the mechanosensory and chemosensory cells (PubMed:29572253). Required for the assembly and stabilization of the stereociliary parallel actin bundles. Plays a crucial role in the formation and maintenance of inner ear hair cell stereocilia (By similarity). Involved in the elongation of actin in stereocilia (PubMed:29572253). In extrastriolar hair cells, required for targeting MYO3B to stereocilia tips, and for regulation of stereocilia diameter and staircase formation