| UniProt ID | DYSF_MOUSE | |
|---|---|---|
| UniProt AC | Q9ESD7 | |
| Protein Name | Dysferlin | |
| Gene Name | Dysf | |
| Organism | Mus musculus (Mouse). | |
| Sequence Length | 2090 | |
| Subcellular Localization |
Cell membrane, sarcolemma Single-pass type II membrane protein. Cytoplasmic vesicle membrane Single-pass type II membrane protein. Cell membrane. Colocalizes, during muscle differentiation, with BIN1 in the T-tubule system of myotubules and at the |
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| Protein Description | 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.. | |
| Protein Sequence | MLRVFILFAENVHTPDSDISDAYCSAVFAGVKKRTKVIKNSVNPVWNEGFEWDLKGIPLDQSSELLVVVKDHETMGRNRFLGEAKIPLQEVLATPSLSASFNAPLLDAKQQPTGASLVLQVSYTPPPGAVPLFPPPASLAPSPTLPDMDLVPDTGGEEDTEDQGLTGDEAEPFLDQSAAVGPGGPTTPRKPPSHPPPHYPGAKRKRSSAPPRKLLSDKPQDFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIQKGNSPLFNETLFFNVFDSPLELFDEPIFITVVDSRSLRTDALLGEFRMDVGTVYREPRHAYLRKWLLLSDPDDFSAGARGYLKASLCVLGPGDEAPLDKKDPSEDKEDIEGNLLRPTGVALRGAHFCLKLFRAEDLPQMDDAVMDNVKQIFGFDSNKKNLVDPFVEVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRVMDWDRLTHNDTVATTYLGMSKISATGGEIEEEPAGVLKSPQATDLDDNLGFLPTFGPCYVNLYGSPREFTGFPDPYAELNTGKGEGVAYRGRVLLSLETKLVEHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYSATMLQDVDDAIQFEVSIGNYGNKFDTTCLPLASTTQYSRAVFDGGSLPLPVGCHYYYLPWGNVKPVVVLSSYWEDISHRIEIQNQLLRVADRLEANLEQVHLALKAQCSSEDVDALVAQLTDELLADCSQPLCDIHEIPSATHLDQYLLRLRTRHLSQIKEAALALKLGHSELSTALEQAEDWLLHLRALAEEPQNSLPDIIIWMLQGDKRVAYQRVPAHEVLFSRRGPSYCGRNCGKLQTIFLKYPMEGMPGARMPVQIRIKLWFGLSVDEKEFNQFAEGKLSVFAETYENQTKLALVGNWGTTGLTYPKFSDVTGKIKLPKDSFRPSAGWAWAGDWFVCPEKTLLHDADAGHLSFVEEVFENQTRLPGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPPDRKPKHWVPVEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWKFHLEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGMVDDKSEDSMSVSTLSFGVNRPTISCIFDYGNRYHLRCYLYQARDLPAMDKDSFSDPYAIVSFLHQSQKTVVEKNTLNPTWDQTLIFYEIEIFGEPASIAEHPPCIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPLTRGSQPAGELLAAFELIQREKPAIHHIPGFEMHETSRILDETEDTDLPYPPPQREANIYMVPQNIKPALQRTAIEILAWGLRNMKSYQMASISSPSLVVECGGQTVQSCVIRNLRKNPNFDVCTLFMEVMLPREDLYCPPIVVKVIDNRQFGRRPVVGQCTIRSLENFLCDPYSAESPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPVQEEEFIDWWSKFFASVGEREKCGSYLEKDFDTLKVYDTQLENVEAFGGLSDFCNTFKLYRGRTQEETDDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIGETVIDLENRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQHRIKAPVYRTDRVTFQDKDYTIEEIEAGRLPNPHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPDIEQGKLQMWIDIFPKVLGRPGPPFNITPRKARRFFLRCIIWNTKDVILDDLSLTGEKMSDIYVKGWMVGFEEHKQKTDVHYRSLGGEGNFNWRFVFPFDYLPAEQVCAVAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAEKCSLDQLDDTFHPEWFVSLFEQKTVKGWWPCVTEEGEKKMLAGKLEMTLEIVAESEHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRFRCAIILFIILFILLLFLGVFVYAFPNYAAMKLVKPFR | |
| Overview of Protein Modification Sites with Functional and Structural Information | ||
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* ASA = Accessible Surface Area
| Locations | Modification | Substrate Peptides & Secondary Structure |
ASA (%) | Reference | Orthologous Protein Cluster |
|---|---|---|---|---|---|
| 160 | Phosphorylation | DTGGEEDTEDQGLTG CCCCCCCCCCCCCCC | 44.75 | 21183079 | |
| 162 (in isoform 2) | Phosphorylation | - | 50.36 | 23737553 | |
| 164 (in isoform 2) | Phosphorylation | - | 37.21 | 27180971 | |
| 166 | Phosphorylation | DTEDQGLTGDEAEPF CCCCCCCCCCCCCCC | 49.78 | 21183079 | |
| 167 (in isoform 2) | Phosphorylation | - | 35.49 | 27180971 | |
| 169 (in isoform 2) | Phosphorylation | - | 57.17 | 23737553 | |
| 170 (in isoform 2) | Phosphorylation | - | 34.21 | 23737553 | |
| 173 (in isoform 2) | Phosphorylation | - | 9.88 | 23737553 | |
| 176 (in isoform 2) | Phosphorylation | - | 36.80 | 25338131 | |
| 177 | Phosphorylation | AEPFLDQSAAVGPGG CCCCCCCCCCCCCCC | 20.19 | 21183079 | |
| 184 (in isoform 2) | Phosphorylation | - | 21.37 | 23737553 | |
| 186 (in isoform 2) | Phosphorylation | - | 53.35 | 23737553 | |
| 187 | Phosphorylation | VGPGGPTTPRKPPSH CCCCCCCCCCCCCCC | 24.99 | 21183079 | |
| 192 (in isoform 2) | Phosphorylation | - | 48.59 | 23737553 | |
| 193 | Phosphorylation | TTPRKPPSHPPPHYP CCCCCCCCCCCCCCC | 58.09 | 26824392 | |
| 198 (in isoform 2) | Phosphorylation | - | 47.39 | 29514104 | |
| 199 | Phosphorylation | PSHPPPHYPGAKRKR CCCCCCCCCCCCCCC | 14.77 | 20469934 | |
| 207 | Phosphorylation | PGAKRKRSSAPPRKL CCCCCCCCCCCCCHH | 33.61 | 23684622 | |
| 209 (in isoform 2) | Phosphorylation | - | 21.25 | 23984901 | |
| 213 (in isoform 2) | Ubiquitination | - | 60.60 | 22790023 | |
| 213 | Ubiquitination | RSSAPPRKLLSDKPQ CCCCCCCHHCCCCCC | 60.60 | 22790023 | |
| 218 (in isoform 2) | Phosphorylation | - | 41.00 | 25338131 | |
| 218 (in isoform 2) | Ubiquitination | - | 41.00 | 22790023 | |
| 218 | Ubiquitination | PRKLLSDKPQDFQIR CCHHCCCCCCCEEEE | 41.00 | 22790023 | |
| 219 (in isoform 2) | Phosphorylation | - | 43.92 | 23984901 | |
| 245 (in isoform 2) | Ubiquitination | - | 2.73 | - | |
| 250 (in isoform 2) | Ubiquitination | - | 38.84 | - | |
| 251 | Phosphorylation | KVTAAGQTKRTRIQK EEEECCCCCCCCCCC | 22.90 | 21183079 | |
| 344 | S-nitrosocysteine | GYLKASLCVLGPGDE HHCEEEEEEECCCCC | 1.89 | - | |
| 344 | S-nitrosylation | GYLKASLCVLGPGDE HHCEEEEEEECCCCC | 1.89 | 20925432 | |
| 449 | Phosphorylation | PQWNQNITLPAMFPS CCCCCCCCCCHHCHH | 33.95 | 27566939 | |
| 535 | Phosphorylation | YGSPREFTGFPDPYA CCCCCCCCCCCCCCC | 32.91 | 25168779 | |
| 541 | Phosphorylation | FTGFPDPYAELNTGK CCCCCCCCCCCCCCC | 21.79 | 25168779 | |
| 546 | Phosphorylation | DPYAELNTGKGEGVA CCCCCCCCCCCCCCC | 53.55 | 25168779 | |
| 548 | Ubiquitination | YAELNTGKGEGVAYR CCCCCCCCCCCCCHH | 52.31 | 22790023 | |
| 548 (in isoform 2) | Ubiquitination | - | 52.31 | 22790023 | |
| 566 (in isoform 2) | Ubiquitination | - | 7.74 | - | |
| 594 | Phosphorylation | KYLRRRKYSLFAAFY HHHHHHCHHHHHHHH | 14.59 | 25293948 | |
| 595 | Phosphorylation | YLRRRKYSLFAAFYS HHHHHCHHHHHHHHH | 21.75 | 25293948 | |
| 601 | Phosphorylation | YSLFAAFYSATMLQD HHHHHHHHHHHHCCC | 7.83 | 25293948 | |
| 602 | Phosphorylation | SLFAAFYSATMLQDV HHHHHHHHHHHCCCC | 15.71 | 25293948 | |
| 604 | Phosphorylation | FAAFYSATMLQDVDD HHHHHHHHHCCCCCH | 16.69 | 25293948 | |
| 618 | Phosphorylation | DAIQFEVSIGNYGNK HHHEEEEECCCCCCC | 19.99 | 25293948 | |
| 622 | Phosphorylation | FEVSIGNYGNKFDTT EEEECCCCCCCCCCC | 19.50 | 25293948 | |
| 834 | S-nitrosocysteine | SRRGPSYCGRNCGKL CCCCCCCCCCCCCCC | 4.91 | - | |
| 834 | S-nitrosylation | SRRGPSYCGRNCGKL CCCCCCCCCCCCCCC | 4.91 | 21278135 | |
| 871 | Phosphorylation | IKLWFGLSVDEKEFN EEEEECCCCCHHHHH | 28.09 | 25338131 | |
| 1067 | Ubiquitination | LSQMEALKRHRQAEA HHHHHHHHHHHHHHH | 53.88 | 22790023 | |
| 1067 (in isoform 2) | Ubiquitination | - | 53.88 | 22790023 | |
| 1077 (in isoform 2) | Ubiquitination | - | 53.27 | - | |
| 1532 | Glutathionylation | FGGLSDFCNTFKLYR CCCHHHHHHHHHHHC | 5.87 | 24333276 | |
| 1542 | Phosphorylation | FKLYRGRTQEETDDP HHHHCCCCCCCCCCC | 43.06 | 27742792 | |
| 1550 | Phosphorylation | QEETDDPSVIGEFKG CCCCCCCHHHHEECC | 33.10 | 28464351 | |
| 1556 | Ubiquitination | PSVIGEFKGLFKIYP CHHHHEECCCEEEEE | 50.86 | 22790023 | |
| 1556 (in isoform 2) | Ubiquitination | - | 50.86 | 22790023 | |
| 1566 (in isoform 2) | Ubiquitination | - | 81.79 | - | |
| 1619 | Ubiquitination | YIKISIGKKSVSDQD CEEEEECCCCCCCCC | 39.96 | - | |
| 1668 | Acetylation | DLLSKDEKIGETVID CCCCCCCCCCCHHHH | 67.17 | 23236377 | |
| 1683 | Ubiquitination | LENRLLSKFGARCGL HHHHHHHHHCCCCCC | 48.03 | 22790023 | |
| 1683 (in isoform 2) | Ubiquitination | - | 48.03 | 22790023 | |
| 1693 (in isoform 2) | Ubiquitination | - | 19.56 | - | |
| 1736 | Ubiquitination | DRVTFQDKDYTIEEI CCEEECCCCCEEEEH | 41.68 | 22790023 | |
| 1736 (in isoform 2) | Ubiquitination | - | 41.68 | 22790023 | |
| 1746 (in isoform 2) | Ubiquitination | - | 20.90 | - | |
| 1781 | Phosphorylation | HVESRPLYSPLQPDI CCCCCCCCCCCCCCH | 15.78 | 29233185 | |
| 1782 | Phosphorylation | VESRPLYSPLQPDIE CCCCCCCCCCCCCHH | 27.15 | 29233185 | |
| 1839 | Phosphorylation | DVILDDLSLTGEKMS CEEEHHCCCCCCCHH | 30.77 | 25338131 | |
| 1841 | Phosphorylation | ILDDLSLTGEKMSDI EEHHCCCCCCCHHHE | 39.66 | 25338131 |
| Modified Location | Modified Residue | Modification | Type of Upstream Proteins | Gene Name of Upstream Proteins | UniProt AC of Upstream Proteins | Sources |
|---|---|---|---|---|---|---|
Oops, there are no upstream regulatory protein records of DYSF_MOUSE !! | ||||||
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of DYSF_MOUSE !! | ||||||
* Distance = the distance between SAP position and PTM sites.
| Modified Location | Modification | Variant Position (Distance <= 10) |
Residue Change | SAP | Related Disease | Reference |
|---|---|---|---|---|---|---|
Oops, there are no SNP-PTM records of DYSF_MOUSE !! | ||||||
| Interacting Protein | Gene Name | Interaction Type | PPI Reference | Domain-Domain Interactions |
|---|---|---|---|---|
| ANXA1_MOUSE | Anxa1 | physical | 14506282 | |
| ANXA2_MOUSE | Anxa2 | physical | 14506282 | |
| RIPR2_MOUSE | Fam65b | physical | 24687993 |
| Kegg Drug | ||||||
|---|---|---|---|---|---|---|
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
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