| Gene Information | |
|---|---|
| Gene Name | EXP |
| Organism | Homo sapiens (Human) |
| Gene Length | 388 |
| Protein Names | Muscleblind-like protein 1 (Triplet-expansion RNA-binding protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q9NR56 |
| Gene Card | MBNL1 |
| Uniprot ID | Q9NR56 |
| Pfam | PF00642 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Highly expressed in cardiac, skeletal muscle and during myoblast differentiation. Weakly expressed in other tissues (at protein level). Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:10970838, ECO:0000269|PubMed:11929853}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 3D2N (X-ray 2.70A ) 3D2Q (X-ray 1.50A ) 3D2S (X-ray 1.70A ) 5U6H (NMR - ) 5U6L (NMR - ) 5U9B (NMR - ) |
| DBSNP | rs185894411 |
| Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:10970838, ECO:0000269|PubMed:11590133, ECO:0000269|PubMed:11929853}. Cytoplasm {ECO:0000269|PubMed:18335541}. Cytoplasmic granule {ECO:0000269|PubMed:18335541}. Note=Localized with DDX1, TIAL1 and YBX1 in stress granules upon stress (PubMed:18335541). Localized in the cytoplasm of multinucleated myotubes (PubMed:18335541). Colocalizes with nuclear foci of retained expanded-repeat transcripts in myotubes from patients affected by myotonic dystrophy (PubMed:10970838, PubMed:11590133, PubMed:11929853). |
| Mouse PG classification | NA |
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