| UniProt ID | MYOTI_HUMAN | |
|---|---|---|
| UniProt AC | Q9UBF9 | |
| Protein Name | Myotilin | |
| Gene Name | MYOT | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 498 | |
| Subcellular Localization | Cell membrane, sarcolemma . Cytoplasm, cytoskeleton . Cytoplasm, myofibril, sarcomere, Z line . Sarcomeric, also localized to the sarcolemma (PubMed:10369880). Colocalizes with MYOZ1 at the Z-lines in skeletal muscle (PubMed:16076904). | |
| Protein Description | Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells.. | |
| Protein Sequence | MFNYERPKHFIQSQNPCGSRLQPPGPETSSFSSQTKQSSIIIQPRQCTEQRFSASSTLSSHITMSSSAFPASPKQHAGSNPGQRVTTTYNQSPASFLSSILPSQPDYNSSKIPSAMDSNYQQSSAGQPINAKPSQTANAKPIPRTPDHEIQGSKEALIQDLERKLKCKDTLLHNGNQRLTYEEKMARRLLGPQNAAAVFQAQDDSGAQDSQQHNSEHARLQVPTSQVRSRSTSRGDVNDQDAIQEKFYPPRFIQVPENMSIDEGRFCRMDFKVSGLPAPDVSWYLNGRTVQSDDLHKMIVSEKGLHSLIFEVVRASDAGAYACVAKNRAGEATFTVQLDVLAKEHKRAPMFIYKPQSKKVLEGDSVKLECQISAIPPPKLFWKRNNEMVQFNTDRISLYQDNTGRVTLLIKDVNKKDAGWYTVSAVNEAGVTTCNTRLDVTARPNQTLPAPKQLRVRPTFSKYLALNGKGLNVKQAFNPEGEFQRLAAQSGLYESEEL | |
| 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 |
|---|---|---|---|---|---|
| 20 | Methylation | SQNPCGSRLQPPGPE CCCCCCCCCCCCCCC | 23.72 | - | |
| 30 | Phosphorylation | PPGPETSSFSSQTKQ CCCCCCCCCCCCCCC | 36.25 | 26437602 | |
| 38 | Phosphorylation | FSSQTKQSSIIIQPR CCCCCCCCEEEECCC | 25.67 | 23909892 | |
| 39 | Phosphorylation | SSQTKQSSIIIQPRQ CCCCCCCEEEECCCC | 18.47 | 26437602 | |
| 88 | Phosphorylation | PGQRVTTTYNQSPAS CCCCEEEEECCCHHH | 15.88 | 19845377 | |
| 92 | Phosphorylation | VTTTYNQSPASFLSS EEEEECCCHHHHHHH | 20.85 | 26437602 | |
| 99 | Phosphorylation | SPASFLSSILPSQPD CHHHHHHHHCCCCCC | 30.23 | 19845377 | |
| 107 | Phosphorylation | ILPSQPDYNSSKIPS HCCCCCCCCCCCCCC | 24.51 | 19845377 | |
| 109 | Phosphorylation | PSQPDYNSSKIPSAM CCCCCCCCCCCCCCC | 27.12 | 19845377 | |
| 118 | Phosphorylation | KIPSAMDSNYQQSSA CCCCCCCCCCCCCCC | 25.09 | 25072903 | |
| 120 | Phosphorylation | PSAMDSNYQQSSAGQ CCCCCCCCCCCCCCC | 16.33 | 25072903 | |
| 123 | Phosphorylation | MDSNYQQSSAGQPIN CCCCCCCCCCCCCCC | 13.46 | 25072903 | |
| 124 | Phosphorylation | DSNYQQSSAGQPINA CCCCCCCCCCCCCCC | 31.89 | 25072903 | |
| 145 | Phosphorylation | NAKPIPRTPDHEIQG CCCCCCCCCCHHCCC | 27.93 | 26437602 | |
| 153 | Phosphorylation | PDHEIQGSKEALIQD CCHHCCCCHHHHHHH | 15.79 | 22673903 | |
| 180 | Phosphorylation | HNGNQRLTYEEKMAR CCCCCCCCHHHHHHH | 30.95 | 26437602 | |
| 224 | Phosphorylation | HARLQVPTSQVRSRS HCEEECCHHHHHCCC | 32.70 | 26437602 | |
| 225 | Phosphorylation | ARLQVPTSQVRSRST CEEECCHHHHHCCCC | 22.17 | 26437602 | |
| 229 | Phosphorylation | VPTSQVRSRSTSRGD CCHHHHHCCCCCCCC | 31.55 | 19764811 | |
| 231 | Phosphorylation | TSQVRSRSTSRGDVN HHHHHCCCCCCCCCC | 31.79 | 19764811 | |
| 232 | Phosphorylation | SQVRSRSTSRGDVND HHHHCCCCCCCCCCC | 22.72 | 19764811 | |
| 233 | Phosphorylation | QVRSRSTSRGDVNDQ HHHCCCCCCCCCCCH | 35.20 | 19764811 | |
| 272 | Acetylation | RFCRMDFKVSGLPAP CCCCCEEEECCCCCC | 31.09 | 7378747 | |
| 274 | Phosphorylation | CRMDFKVSGLPAPDV CCCEEEECCCCCCCE | 34.89 | - | |
| 284 | Phosphorylation | PAPDVSWYLNGRTVQ CCCCEEEEECCEEEC | 5.25 | - | |
| 289 | Phosphorylation | SWYLNGRTVQSDDLH EEEECCEEECCHHHH | 25.05 | 26437602 | |
| 353 | Phosphorylation | KRAPMFIYKPQSKKV CCCCEEEECCCCCCE | 12.83 | 22817900 | |
| 397 | Phosphorylation | QFNTDRISLYQDNTG EEECCEEEEEECCCC | 23.17 | 20068231 | |
| 399 | Phosphorylation | NTDRISLYQDNTGRV ECCEEEEEECCCCCE | 13.66 | 20068231 | |
| 403 | Phosphorylation | ISLYQDNTGRVTLLI EEEEECCCCCEEEEE | 34.35 | 20068231 | |
| 407 | Phosphorylation | QDNTGRVTLLIKDVN ECCCCCEEEEEEECC | 17.93 | 20068231 | |
| 461 | Phosphorylation | LRVRPTFSKYLALNG EEECCCHHHHHHHCC | 23.91 | 26437602 | |
| 463 | Phosphorylation | VRPTFSKYLALNGKG ECCCHHHHHHHCCCC | 8.94 | - |
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of MYOTI_HUMAN !! | ||||||
* 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 MYOTI_HUMAN !! | ||||||
| Interacting Protein | Gene Name | Interaction Type | PPI Reference | Domain-Domain Interactions |
|---|---|---|---|---|
| FLNC_HUMAN | FLNC | physical | 11038172 | |
| MYOTI_HUMAN | MYOT | physical | 11038172 | |
| A4_HUMAN | APP | physical | 21832049 | |
| TFG_HUMAN | TFG | physical | 21988832 | |
| NDK7_HUMAN | NME7 | physical | 25416956 |
| Kegg Disease | ||||||
|---|---|---|---|---|---|---|
| H00593 | Limb-girdle muscular dystrophy (LGMD) | |||||
| H00594 | Distal muscular dystrophies, including: Welander distal myopathy (WDM); Tibial muscular dystrophy (T | |||||
| H00595 | Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myot | |||||
| H01291 | Spheroid body myopathy (SBM) | |||||
| OMIM Disease | ||||||
| 159000 | Limb-girdle muscular dystrophy 1A (LGMD1A) | |||||
| 609200 | Myopathy, myofibrillar, 3 (MFM3) | |||||
| 182920 | Spheroid body myopathy (SBM) | |||||
| Kegg Drug | ||||||
| There are no disease associations of PTM sites. | ||||||
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
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