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desmin
Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only to the sarcolemmal cytoskeleton, but also to the nucleus and mitochondria, thus providing strength for the muscle fiber during activity. In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures. May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction. Contributes to the transcriptional regulation of the NKX2-5 gene in cardiac progenitor cells during a short period of cardiomyogenesis and in cardiac side population stem cells in the adult. Plays a role in maintaining an optimal conformation of nebulette (NEB) on heart muscle sarcomeres to bind and recruit cardiac alpha-actin. Belongs to the intermediate filament family. Note: This description may include information from UniProtKB.
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| Protein type: Cytoskeletal; Motility/polarity/chemotaxis |
| Chromosomal Location of human Ortholog: 2q35 |
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Cellular Component:
cardiac myofibril; cell-cell junction; cytosol; fascia adherens; intercalated disc; intermediate filament; intermediate filament cytoskeleton; neuromuscular junction; nucleus; sarcolemma; Z disc
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Molecular Function:
cytoskeletal protein binding; identical protein binding; protein binding; structural constituent of cytoskeleton
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Biological Process:
cytoskeleton organization; intermediate filament organization; muscle contraction; regulation of heart contraction; skeletal muscle organ development
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Disease: Cardiomyopathy, Dilated, 1i; Myopathy, Myofibrillar, 1; Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
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Reference #:
P17661
(UniProtKB)
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Alt. Names/Synonyms: cardiomyopathy, dilated 1F (autosomal dominant); CDCD3; CMD1I; CSM1; CSM2; DES; DESM; Desmin; epididymis secretory sperm binding protein; FLJ12025; FLJ39719; FLJ41013; FLJ41793; intermediate filament protein; LGMD1D; LGMD1E; LGMD2R
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Gene Symbols: DES
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Molecular weight:
53,536 Da
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Basal Isoelectric point:
5.21
Predict pI for various phosphorylation states
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Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology®
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