| Gene Information | |
|---|---|
| Gene Name | MYOF |
| Organism | Homo sapiens (Human) |
| Gene Length | 2061 |
| Protein Names | Myoferlin (Fer-1-like protein 3) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 680 ( ENSG00000138119 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | Q9NZM1 |
| Gene Card | MYOF |
| Uniprot ID | Q9NZM1 |
| Pfam | PF00168; PF08165; PF08150; PF08151; PF16165 |
| In ASD | no |
| Allosteric Prediction | yes (0.265128482) |
| Ortholog in Animals | Alpaca_ MYOF ( ortholog_one2one ) Dog_ MYOF ( ortholog_one2one ) GuineaPig_ MYOF ( ortholog_one2one ) Macaque_ MYOF ( ortholog_one2one ) Mouse_ Myof ( ortholog_one2one ) Pig_ MYOF ( ortholog_one2one ) Rat_ Myof ( ortholog_one2one ) Rabbit_ MYOF ( ortholog_one2one ) |
| Ohnologs | DYSF, FER1L6 |
| Paralogs | OTOF, DYSF, FER1L5, FER1L6 |
| Tissue | NA |
| Tissue Specificity | Expressed in myoblast and endothelial cells (at protein level). Highly expressed in cardiac and skeletal muscles. Also present in lung, and at very low levels in kidney, placenta and brain. {ECO:0000269|PubMed:11959863, ECO:0000269|PubMed:17702744, ECO:0000269|PubMed:18502764}. |
| Pharmacological Animal Models | 0.117047(Chimpanzee);NULL(Mouse);NULL(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 2DMH (NMR - ) 2K2O (NMR - ) 6EEL (X-ray 1.93A ) |
| DBSNP | rs36032890 rs12256834 rs11187393 rs34000599 rs11594445 |
| Subcellular location [CC] | Cell membrane; Single-pass type II membrane protein. Nucleus membrane; Single-pass type II membrane protein. Cytoplasmic vesicle membrane; Single-pass type II membrane protein. Note=Concentrated at the membrane sites of both myoblast-myoblast and myoblast-myotube fusions. Detected at the plasmalemma in endothelial cells lining intact blood vessels (By similarity). Found at nuclear and plasma membranes. Enriched in undifferentiated myoblasts near the plasma membrane in puncate structures. {ECO:0000250}. |
| Mouse PG classification | NA |
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