| Gene Information | |
|---|---|
| Gene Name | DES |
| Organism | Homo sapiens (Human) |
| Gene Length | 470 |
| Protein Names | Desmin |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000175084 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | P17661 |
| Gene Card | DES |
| Uniprot ID | P17661 |
| Pfam | PF00038; PF04732 |
| In ASD | no |
| Allosteric Prediction | yes (0.115499162) |
| Ortholog in Animals | Alpaca_ DES ( ortholog_one2one ) Dog_ DES ( ortholog_one2one ) GuineaPig_ DES ( ortholog_one2one ) Macaque_ DES ( ortholog_one2one ) Mouse_ Des ( ortholog_one2one ) Pig_ DES ( ortholog_one2one ) Rat_ Des ( ortholog_one2one ) Rabbit_ DES ( ortholog_one2one ) |
| Ohnologs | KRT33A, VIM, NEFH, NEFM, KRT18, GFAP, PRPH, KRT7, KRT84, KRT82, KRT80, KRT1, KRT8, KRT86, KRT75, KRT6C, KRT4, KRT83, KRT19, KRT15, KRT2, KRT6B, KRT79, KRT5, KRT10, KRT17P2, KRT16, KRT14, KRT77, KRT6A |
| Paralogs | VIM, KRT12, KRT74, INA, NEFM, KRT39, SYNM, KRT13, KRT80, KRT33B, KRT31, KRT77, KRT26, KRT32, KRT73, KRT28, KRT37, KRT38, KRT6B, KRT6A, KRT6C, KRT72, KRT20, KRT5, KRT222, LMNB1, PRPH, KRT23, KRT4, KRT36, KRT7, KRT34, KRT75, KRT25, KRT76, KRT35, KRT78, KRT24, KRT40, KRT86, KRT83, KRT81, NES, KRT2, KRT9, KRT27, KRT3, KRT84, LMNB2, KRT33A, KRT82, BFSP2, KRT14, KRT16, KRT85, LMNA, KRT8, GFAP, KRT17, KRT79, KRT71, KRT1, KRT19, LMNTD1, NEFL, KRT15, KRT18, KRT10 |
| Tissue | NA |
| Tissue Specificity | NA |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.022222(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs58999456 rs903985237 rs62636495 rs60798368 rs60794845 rs60794845 rs267607499 rs1954373010 rs397516695 rs41272699 rs201945924 rs267607486 rs59962885 rs57496341 rs267607482 rs57639980 rs57965306 rs61368398 rs58898021 rs121913000 rs59308628 rs57955682 rs121913004 rs121913001 rs61130669 rs57694264 rs121913003 rs62635763 rs121913005 rs267607485 rs121913002 rs267607488 rs267607490 rs267607491 |
| Subcellular location [CC] | Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:24200904, ECO:0000269|PubMed:26724190, ECO:0000269|PubMed:30262925}. Cytoplasm {ECO:0000269|PubMed:25394388}. Cell membrane, sarcolemma {ECO:0000269|PubMed:25394388}. Nucleus {ECO:0000250|UniProtKB:P31001}. Note=Localizes in the intercalated disks which occur at the Z line of cardiomyocytes (PubMed:24200904, PubMed:26724190). Localizes in the nucleus exclusively in differentiating cardiac progenitor cells and premature cardiomyocytes (By similarity). {ECO:0000250|UniProtKB:P31001, ECO:0000269|PubMed:24200904, ECO:0000269|PubMed:26724190}. |
| Mouse PG classification | HPG |
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