UniProt ID | DYSF_MOUSE | |
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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 | ||
* 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 |
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Oops, there are no upstream regulatory protein records of DYSF_MOUSE !! |
Modified Location | Modified Residue | Modification | Function | Reference | ||
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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 | ||||||
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DrugBank | ||||||
There are no disease associations of PTM sites. |
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