Protein: Dysferlin (Dystrophy-associated fer-1-like protein) (Fer-1-like protein 1) (Q9ESD7)
Organism: Mus musculus (Mouse)
Function: Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress.
Subcellular location: Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasmic vesicle membrane; Single-pass type II membrane protein. Cell membrane {ECO:0000250}. Note=Colocalizes, during muscle differentiation, with BIN1 in the T-tubule system of myotubules and at the site of contact between two myotubes or a myoblast and a myotube (By similarity). Accumulates and colocalizes with fusion vesicles at the sarcolemma disruption sites. Wounding of myotubes led to its focal enrichment to the site of injury and to its relocalization in a Ca(2+)-dependent manner toward the plasma membrane (By similarity). Colocalizes with ANXA1 and ANXA2 at the sarcolemma in skeletal muscle. Colocalizes with PARVB at the sarcolemma of skeletal muscle (By similarity). Retained by caveolin at the plasmma membrane. Reaches the plasmma membrane through a caveolin-independent mechanism. Colocalizes, during muscle differentiation, with CACNA1S in the T-tubule system of myotubules. Detected on the apical plasma membrane of the syncytiotrophoblast (By similarity). {ECO:0000250}.
Interaction partners:
- Caveolin-3
- Tripartite motif-containing protein 72
- Annexin A1
- Annexin A2
- AHNAK nucleoprotein
- Calpain-3
- Dystrophin
- EH domain-containing protein 2
- EH domain-containing protein 3
- Caveolae-associated protein 1
Sequence:
MLRVFILFAENVHTPDSDISDAYCSAVFAGVKKRTKVIKNSVNPVWNEGFEWDLKGIPLDQSSELLVVVKDHETMGRNRFLGEAKIPLQEVLATPSLSASFNAPLLDAKQQPTGASLVLQVSYTPPPGAVPLFPPPASLAPSPTLPDMDLVPDTGGEEDTEDQGLTGDEAEPFLDQSAAVGPGGPTTPRKPPSHPPPHYPGAKRKRSSAPPRKLLSDKPQDFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIQKGNSPLFNETLFFNVFDSPLELFDEPIFITVVDSRSLRTDALLGEFRMDVGTVYREPRHAYLRKWLLLSDPDDFSAGARGYLKASLCVLGPGDEAPLDKKDPSEDKEDIEGNLLRPTGVALRGAHFCLKLFRAEDLPQMDDAVMDNVKQIFGFDSNKKNLVDPFVEVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRVMDWDRLTHNDTVATTYLGMSKISATGGEIEEEPAGVLKSPQATDLDDNLGFLPTFGPCYVNLYGSPREFTGFPDPYAELNTGKGEGVAYRGRVLLSLETKLVEHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYSATMLQDVDDAIQFEVSIGNYGNKFDTTCLPLASTTQYSRAVFDGGSLPLPVGCHYYYLPWGNVKPVVVLSSYWEDISHRIEIQNQLLRVADRLEANLEQVHLALKAQCSSEDVDALVAQLTDELLADCSQPLCDIHEIPSATHLDQYLLRLRTRHLSQIKEAALALKLGHSELSTALEQAEDWLLHLRALAEEPQNSLPDIIIWMLQGDKRVAYQRVPAHEVLFSRRGPSYCGRNCGKLQTIFLKYPMEGMPGARMPVQIRIKLWFGLSVDEKEFNQFAEGKLSVFAETYENQTKLALVGNWGTTGLTYPKFSDVTGKIKLPKDSFRPSAGWAWAGDWFVCPEKTLLHDADAGHLSFVEEVFENQTRLPGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPPDRKPKHWVPVEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWKFHLEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGMVDDKSEDSMSVSTLSFGVNRPTISCIFDYGNRYHLRCYLYQARDLPAMDKDSFSDPYAIVSFLHQSQKTVVEKNTLNPTWDQTLIFYEIEIFGEPASIAEHPPCIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPLTRGSQPAGELLAAFELIQREKPAIHHIPGFEMHETSRILDETEDTDLPYPPPQREANIYMVPQNIKPALQRTAIEILAWGLRNMKSYQMASISSPSLVVECGGQTVQSCVIRNLRKNPNFDVCTLFMEVMLPREDLYCPPIVVKVIDNRQFGRRPVVGQCTIRSLENFLCDPYSAESPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPVQEEEFIDWWSKFFASVGEREKCGSYLEKDFDTLKVYDTQLENVEAFGGLSDFCNTFKLYRGRTQEETDDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIGETVIDLENRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQHRIKAPVYRTDRVTFQDKDYTIEEIEAGRLPNPHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPDIEQGKLQMWIDIFPKVLGRPGPPFNITPRKARRFFLRCIIWNTKDVILDDLSLTGEKMSDIYVKGWMVGFEEHKQKTDVHYRSLGGEGNFNWRFVFPFDYLPAEQVCAVAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAEKCSLDQLDDTFHPEWFVSLFEQKTVKGWWPCVTEEGEKKMLAGKLEMTLEIVAESEHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRFRCAIILFIILFILLLFLGVFVYAFPNYAAMKLVKPFR