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 | ||
|
* 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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