Usher syndrome type-1G protein (Scaffold protein containing ankyrin repeats and SAM domain)
1_MNDQY 6_ HRAAR 11_ DGYLE 16_ LLKEA 21_ TRKEL 26_ NAPDE 31_ DGMTP 36_ TLWAA 41_ YHGNL 46_ ESLRL 51_ IVSRG 56_ GDPDK 61_ CDIWG 66_ NTPLH 71_ LAASN 76_ GHLHC 81_ LSFLV 86_ SFGAN 91_ IWCLD 96_ NDYHT 101_ PLDMA 106_ AMKGH 111_ MECVR 116_ YLDSI 121_ AAKQS 126_ SLNPK 131_ LVGKL 136_ KDKAF 141_ REAER 146_ RIREC 151_ AKLQR 156_ RHHER 161_ MERRY 166_ RRELA 171_ ERSDT 176_ LSFSS 181_ LTSST 186_ LSRRL 191_ QHLAL 196_ GSHLP 201_ YSQAT 206_ LHGTA 211_ RGKTK 216_ MQKKL 221_ ERRKQ 226_ GGEGT 231_ FKVSE 236_ DGRKS 241_ ARSLS 246_ GLQLG 251_ SDVMF 256_ VRQGT 261_ YANPK 266_ EWGRA 271_ PLRDM 276_ FLSDE 281_ DSVSR 286_ ATLAA 291_ EPAHS 296_ EVSTD 301_ SGHDS 306_ LFTRP 311_ GLGTM 316_ VFRRN 321_ YLSSG 326_ LHGLG 331_ REDGG 336_ LDGVG 341_ APRGR 346_ LQSSP 351_ SLDDD 356_ SLGSA 361_ NSLQD 366_ RSCGE 371_ ELPWD 376_ ELDLG 381_ LDEDL 386_ EPETS 391_ PLETF 396_ LASLH 401_ MEDFA 406_ ALLRQ 411_ EKIDL 416_ EALML 421_ CSDLD 426_ LRSIS 431_ VPLGP 436_ RKKIL 441_ GAVRR 446_ RRQAM 451_ ERPPA 456_LEDTE
1: Plays a role in pre-mRNA splicing by regulating the release and transfer of U4/U6.U5 tri-small nuclear ribonucleoprotein (tri-snRNP) complexes from their assembly site in Cajal bodies to nuclear speckles, thereby contributing to the assembly of the pre-catalytic spliceosome on target pre-mRNAs (PubMed:34023904). May also participate in recycling of snRNPs back to Cajal bodies during splicing (PubMed:34023904). Plays a role in regulating MAGI2-mediated endocytosis (PubMed:24608321). Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles. Required for normal hearing