| Gene Information | |
|---|---|
| Gene Name | MYOT |
| Organism | Homo sapiens (Human) |
| Gene Length | 498 |
| Protein Names | Myotilin (57 kDa cytoskeletal protein) (Myofibrillar titin-like Ig domains protein) (Titin immunoglobulin domain protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 454 ( ENSG00000120729 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | Q9UBF9 |
| Gene Card | MYOT |
| Uniprot ID | Q9UBF9 |
| Pfam | PF07679 |
| In ASD | no |
| Allosteric Prediction | no (-0.674759527) |
| Ortholog in Animals | Alpaca_ MYOT ( ortholog_one2one ) Dog_ MYOT ( ortholog_one2one ) GuineaPig_ MYOT ( ortholog_one2one ) Mouse_ Myot ( ortholog_one2one ) Pig_ MYOT ( ortholog_one2one ) Rat_ Myot ( ortholog_one2one ) Rabbit_ MYOT ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | OBSCN, PALLD, MYPN, HMCN1, IGFN1, CCDC141, ALPK3, SPEG, SPEGNB |
| Tissue | skeletal.muscle, artery, tongue |
| Tissue Specificity | Expressed in skeletal muscle (at protein level). Expressed in skeletal muscle, heart, bone marrow and thyroid gland. {ECO:0000269|PubMed:10369880, ECO:0000269|PubMed:10486214}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
|
| PDB | 2KDG (NMR - ) 2KKQ (NMR - ) |
| DBSNP | rs34717730 rs28937597 rs6890689 |
| Subcellular location [CC] | Cell membrane, sarcolemma {ECO:0000269|PubMed:10369880}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10369880}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:16076904}. Note=Sarcomeric, also localized to the sarcolemma (PubMed:10369880). Colocalizes with MYOZ1 at the Z-lines in skeletal muscle (PubMed:16076904). {ECO:0000269|PubMed:10369880, ECO:0000269|PubMed:16076904}. |
| Mouse PG classification | NA |
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