Names & Taxonomy
- Uniprot ID:
- O75923
- Entry Name:
- DYSF_HUMAN
- Status:
- reviewed
- Protein Names:
- Dysferlin (Dystrophy-associated fer-1-like protein) (Fer-1-like protein 1)
- Gene Names:
- DYSF FER1L1
- Gene Names Primary:
- DYSF
- Organism:
- Homo sapiens (Human)
Structure
- Length:
- 2080
- Sequence:
- MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNPVWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASFNAPLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVADTGGEEDTEDQGLTGDEAEPFLDQSGGPGAPTTPRKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQDFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPGELFDEPIFITVVDSRSLRTDALLGEFRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDEAPLERKDPSEDKEDIESNLLRPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDPFVEVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDRLTHNDIVATTYLSMSKISAPGGEIEEEPAGAVKPSKASDLDDYLGFLPTFGPCYINLYGSPREFTGFPDPYTELNTGKGEGVAYRGRLLLSLETKLVEHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYSATMLQDVDDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVVLSSYWEDISHRIETQNQLLGIADRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGCSQPLGDIHETPSATHLDQYLYQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLRALAEEPQNSLPDIVIWMLQGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYPMEKVPGARMPVQIRVKLWFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGTTGLTYPKFSDVTGKIKLPKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFENQTRLPGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPPERKPKHWVPAEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWKFHLEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSMSVSTLSFGVNRPTISCIFDYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQKTVVVKNTLNPTWDQTLIFYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPLTRGSQPSGELLASFELIQREKPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIYMVPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSLVVECGGQTVQSCVIRNLRKNPNFDICTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSAESPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPIQEEEFIDWWSKFFASIGEREKCGSYLEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEETEDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIGETVVDLENRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTDRVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPDIEQGKLQMWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNTRDVILDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYLPAEQVCTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAKKCSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVAEEGEKKILAGKLEMTLEIVAESEHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRFRWAIILFIILFILLLFLAIFIYAFPNYAAMKLVKPFS
- Proteomes:
- UP000005640
Subcellular location
- Subcellular Location:
- Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasmic vesicle membrane
Function
- 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 (By similarity).
- Gene Ontology Go:
- cytoplasmic vesicle membrane
early endosome
endocytic vesicle
endosome
extracellular exosome
integral component of membrane
lamellipodium
late endosome
plasma membrane
sarcolemma
T-tubule
calcium ion binding
calcium-dependent phospholipid binding
phospholipid binding
muscle contraction
plasma membrane repair
vesicle fusion - Gene Ontology Biological Process:
- muscle contraction
plasma membrane repair
vesicle fusion - Gene Ontology Molecular Function:
- calcium-dependent phospholipid binding
calcium ion binding
phospholipid binding - Gene Ontology Cellular Component:
- cytoplasmic vesicle membrane
early endosome
endocytic vesicle
endosome
extracellular exosome
integral component of membrane
lamellipodium
late endosome
plasma membrane
sarcolemma
T-tubule - Keywords:
- 3D-structure
Alternative promoter usage
Alternative splicing
Calcium
Cell membrane
Complete proteome
Cytoplasmic vesicle
Disease mutation
Limb-girdle muscular dystrophy
Lipid-binding
Membrane
Metal-binding
Phosphoprotein
Polymorphism
Reference proteome
Repeat
Signal-anchor
Transmembrane
Transmembrane helix - Interacts With:
- P35609; Q8TCU4; Q9UKG1; Q8N3K9; P17661; Q16760; O75190; Q14315; Q00872; P52179; P54296; P20929; Q96CV9; Q9Y3Z3; Q13326; O95295; Q8WZ42
Publication
- PubMed ID:
- 9731526 16896923 19221801 15815621 9731527 14702039 10196375 10496277 10196377 11198284 11532985 11959863 15318348 15835269 17554076 17185750 17363620 21269460 24461013 24275569 24438169 24239457 11134403 11468312 12796534 14678801 15477515 15469449 15116377 15515206 16010686 16100712 16705711 16996541 16959974 17287450 18306167 18853459