Dysf
entrez
26903
canonical
uniprot
Q9ESD7
canonical
ensembl
ENSMUSG00000033788
resolver
ensp
ENSMUSP00000080579
resolver
ensp
ENSMUSP00000087022
resolver
ensp
ENSMUSP00000109449
resolver
ensp
ENSMUSP00000109452
resolver
ensp
ENSMUSP00000109454
resolver
ensp
ENSMUSP00000144705
resolver
ensp
ENSMUSP00000144748
resolver
ensp
ENSMUSP00000144970
resolver
ensp
ENSMUSP00000145292
resolver
ensp
ENSMUSP00000145511
resolver
ensp
ENSMUSP00000145518
resolver
enst
ENSMUST00000089595
resolver
enst
ENSMUST00000113821
resolver
enst
ENSMUST00000113823
resolver
enst
ENSMUST00000153860
resolver
enst
ENSMUST00000203695
resolver
enst
ENSMUST00000204354
resolver
enst
ENSMUST00000204591
resolver
enst
ENSMUST00000204987
resolver
genesymbol
Dysf
resolver
genesymbol_syn
Fer1l1
resolver
uniprot
A0A0N4SUJ2
resolver
uniprot
A0A0N4SUN3
resolver
uniprot
A0A0N4SV63
resolver
uniprot
A0A0N4SVX9
resolver
uniprot
A0A0N4SWH3
resolver
uniprot
E9PXU9
resolver
uniprot
E9Q423
resolver
uniprot
E9QL12
resolver
uniprot
Q6KAR3
resolver
uniprot
Q80VT0
resolver
uniprot
Q9QXC0
resolver
uniprot_entry
A0A0N4SUJ2_MOUSE
resolver
uniprot_entry
A0A0N4SUN3_MOUSE
resolver
uniprot_entry
A0A0N4SV63_MOUSE
resolver
uniprot_entry
A0A0N4SVX9_MOUSE
resolver
uniprot_entry
A0A0N4SWH3_MOUSE
resolver
uniprot_entry
DYSF_MOUSE
resolver
uniprot_entry
E9PXU9_MOUSE
resolver
uniprot_entry
E9Q423_MOUSE
resolver
uniprot_entry
E9QL12_MOUSE
resolver
uniprot_sec
Q6KAR3
resolver
uniprot_sec
Q80VT0
resolver
uniprot_sec
Q9QXC0
resolver
amino_acid_sequence
MLRVFILFAENVHTPDSDISDAYCSAVFAGVKKRTKVIKNSVNPVWNEGFEWDLKGIPLDQSSELLVVVKDHETMGRNRFLGEAKIPLQEVLATPSLSASFNAPLLDAKQQPTGASLVLQVSYTPPPGAVPLFPPPASLAPSPTLPDMDLVPDTGGEEDTEDQGLTGDEAEPFLDQSAAVGPGGPTTPRKPPSHPPPHYPGAKRKRSSAPPRKLLSDKPQDFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIQKGNSPLFNETLFFNVFDSPLELFDEPIFITVVDSRSLRTDALLGEFRMDVGTVYREPRHAYLRKWLLLSDPDDFSAGARGYLKASLCVLGPGDEAPLDKKDPSEDKEDIEGNLLRPTGVALRGAHFCLKLFRAEDLPQMDDAVMDNVKQIFGFDSNKKNLVDPFVEVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRVMDWDRLTHNDTVATTYLGMSKISATGGEIEEEPAGVLKSPQATDLDDNLGFLPTFGPCYVNLYGSPREFTGFPDPYAELNTGKGEGVAYRGRVLLSLETKLVEHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYSATMLQDVDDAIQFEVSIGNYGNKFDTTCLPLASTTQYSRAVFDGGSLPLPVGCHYYYLPWGNVKPVVVLSSYWEDISHRIEIQNQLLRVADRLEANLEQVHLALKAQCSSEDVDALVAQLTDELLADCSQPLCDIHEIPSATHLDQYLLRLRTRHLSQIKEAALALKLGHSELSTALEQAEDWLLHLRALAEEPQNSLPDIIIWMLQGDKRVAYQRVPAHEVLFSRRGPSYCGRNCGKLQTIFLKYPMEGMPGARMPVQIRIKLWFGLSVDEKEFNQFAEGKLSVFAETYENQTKLALVGNWGTTGLTYPKFSDVTGKIKLPKDSFRPSAGWAWAGDWFVCPEKTLLHDADAGHLSFVEEVFENQTRLPGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPPDRKPKHWVPVEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWKFHLEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGMVDDKSEDSMSVSTLSFGVNRPTISCIFDYGNRYHLRCYLYQARDLPAMDKDSFSDPYAIVSFLHQSQKTVVEKNTLNPTWDQTLIFYEIEIFGEPASIAEHPPCIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPLTRGSQPAGELLAAFELIQREKPAIHHIPGFEMHETSRILDETEDTDLPYPPPQREANIYMVPQNIKPALQRTAIEILAWGLRNMKSYQMASISSPSLVVECGGQTVQSCVIRNLRKNPNFDVCTLFMEVMLPREDLYCPPIVVKVIDNRQFGRRPVVGQCTIRSLENFLCDPYSAESPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPVQEEEFIDWWSKFFASVGEREKCGSYLEKDFDTLKVYDTQLENVEAFGGLSDFCNTFKLYRGRTQEETDDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIGETVIDLENRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQHRIKAPVYRTDRVTFQDKDYTIEEIEAGRLPNPHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPDIEQGKLQMWIDIFPKVLGRPGPPFNITPRKARRFFLRCIIWNTKDVILDDLSLTGEKMSDIYVKGWMVGFEEHKQKTDVHYRSLGGEGNFNWRFVFPFDYLPAEQVCAVAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAEKCSLDQLDDTFHPEWFVSLFEQKTVKGWWPCVTEEGEKKMLAGKLEMTLEIVAESEHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRFRCAIILFIILFILLLFLGVFVYAFPNYAAMKLVKPFR
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Dysf are the cause of a slowly progressive muscular dystrophy observed in SJL mice. It affects primarily the proximal muscles and it is inherited as autosomal recessive trait. {ECO:0000269|PubMed:10508505, ECO:0000269|PubMed:11234777}.
uniprot
proteins
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. {ECO:0000269|PubMed:12736685, ECO:0000269|PubMed:14506282, ECO:0000269|PubMed:17607357}.
uniprot
proteins
mass_dalton
237911
uniprot
proteins
protein_family
Ferlin family
uniprot
proteins
pubmed
10508505
uniprot
proteins
pubmed
11234777
uniprot
proteins
pubmed
12736685
uniprot
proteins
pubmed
14506282
uniprot
proteins
pubmed
15449545
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15835269
uniprot
proteins
pubmed
16550931
uniprot
proteins
pubmed
17607357
uniprot
proteins
pubmed
18096699
uniprot
proteins
pubmed
19380584
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
21183079
uniprot
proteins
sequence_length
2090
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane, sarcolemma {ECO:0000269|PubMed:12736685}; Single-pass type IV membrane protein {ECO:0000305}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:12736685}; Single-pass type IV membrane protein {ECO:0000305}. Cell membrane {ECO:0000250|UniProtKB:O75923}; Single-pass type IV membrane protein {ECO:0000305}. Late endosome membrane {ECO:0000250|UniProtKB:O75923}; Single-pass type IV membrane protein {ECO:0000305}. 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|UniProtKB:O75923}.
uniprot
proteins
transmembrane_region
TRANSMEM 2057..2077; /note="Helical; Anchor for type IV membrane protein"; /evidence="ECO:0000255
uniprot
proteins