Des
entrez
13346
canonical
uniprot
P31001
canonical
ensembl
ENSMUSG00000026208
resolver
ensp
ENSMUSP00000027409
resolver
enst
ENSMUST00000027409
resolver
genesymbol
Des
resolver
uniprot
Q3V1K9
resolver
uniprot_entry
DESM_MOUSE
resolver
uniprot_entry
Q3V1K9_MOUSE
resolver
amino_acid_sequence
MSQAYSSSQRVSSYRRTFGGAPGFSLGSPLSSPVFPRAGFGTKGSSSSMTSRVYQVSRTSGGAGGLGSLRSSRLGTTRAPSYGAGELLDFSLADAVNQEFLATRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEEMRELRRQVEVLTNQRARVDVERDNLIDDLQRLKAKLQEEIQLREEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLKKVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALRQAKQEMMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFASEANGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRKLLEGEESRINLPIQTFSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL
uniprot
proteins
function
FUNCTION: 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 (By similarity). 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 (PubMed:25394388). May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction (PubMed:27102488). Required for nuclear membrane integrity, via anchoring at the cell tip and nuclear envelope, resulting in maintenance of microtubule-derived intracellular mechanical forces (PubMed:35959657). 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 (PubMed:27733623). {ECO:0000250|UniProtKB:P17661, ECO:0000269|PubMed:25394388, ECO:0000269|PubMed:27102488, ECO:0000269|PubMed:27733623, ECO:0000269|PubMed:35959657}.
uniprot
proteins
mass_dalton
53498
uniprot
proteins
mutagenesis
MUTAGEN 7; /note="S->A: Reduced phosphorylation. Almost complete loss of phosphorylation; when associated with A-28 and A-32."; /evidence="ECO:0000269|PubMed:27565725"; MUTAGEN 28; /note="S->A: Reduced phosphorylation. Almost complete loss of phosphorylation; when associated with A-7 and A-32."; /evidence="ECO:0000269|PubMed:27565725"; MUTAGEN 32; /note="S->A: Reduced phosphorylation and formation of unusual long bridge-like intermediate filament structures between two daughter cells during cytokinesis. Almost complete loss of phosphorylation; when associated with A-7 and A-28. Increased formation of unusual long bridge-like intermediate filament structures between two daughter cells during cytokinesis; when associated with A-60 and A-76."; /evidence="ECO:0000269|PubMed:27565725"; MUTAGEN 60; /note="S->A: Formation of unusual long bridge-like intermediate filament structures between two daughter cells during cytokinesis; when associated with A-76. Increased formation of unusual long bridge-like intermediate filament structures between two daughter cells during cytokinesis; when associated with A-32 and A-76."; /evidence="ECO:0000269|PubMed:27565725"; MUTAGEN 76; /note="T->A: Formation of unusual long bridge-like intermediate filament structures between two daughter cells during cytokinesis; when associated with A-60. Increased formation of unusual long bridge-like intermediate filament structures between two daughter cells during cytokinesis; when associated with A-32 and A-60."; /evidence="ECO:0000269|PubMed:27565725"; MUTAGEN 349; /note="R->P: Increases protein decay. forms subsarcolemmal aggregates. Changes the subcellular localization and turnover of its direct, extrasarcomeric binding partners. Knockin mice develop age-dependent desmin-positive protein aggregation pathology, skeletal muscle weakness, dilated cardiomyopathy, as well as cardiac arrhythmias and conduction defects. Knockin mice exhibit altered axial myofibrillar lattice arrangement in fast- and slow-twitch muscle fibers, increased axial stiffness and stretch-induced vulnerability in soleus muscle fiber bundles, reduced Ca(2+)-sensitivity in heterozygous fiber bundles and increased Ca(2+)-sensitivity in homozygous fiber bundles."; /evidence="ECO:0000269|PubMed:25394388
uniprot
proteins
post_translational_modification
PTM: ADP-ribosylation prevents ability to form intermediate filaments. {ECO:0000250|UniProtKB:P48675}.; PTM: Phosphorylation at Ser-7, Ser-28 and Ser-32 by CDK1, phosphorylation at Ser-60 by AURKB and phosphorylation at Thr-76 by ROCK1 contribute to efficient separation of desmin intermediate filaments during mitosis. {ECO:0000269|PubMed:27565725}.; PTM: Ubiquitination by a SCF-like complex containing ASB2 isoform 1 leads to proteasomal degradation. {ECO:0000269|PubMed:26343497}.
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
10357897
uniprot
proteins
pubmed
10852826
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17242355
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24940650
uniprot
proteins
pubmed
25394388
uniprot
proteins
pubmed
25733715
uniprot
proteins
pubmed
26343497
uniprot
proteins
pubmed
26787680
uniprot
proteins
pubmed
27102488
uniprot
proteins
pubmed
27565725
uniprot
proteins
pubmed
27733623
uniprot
proteins
pubmed
28469177
uniprot
proteins
pubmed
31721615
uniprot
proteins
pubmed
35959657
uniprot
proteins
pubmed
37126682
uniprot
proteins
pubmed
8120103
uniprot
proteins
pubmed
8382796
uniprot
proteins
sequence_length
469
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:26343497, ECO:0000269|PubMed:26787680, ECO:0000269|PubMed:28469177}. Cytoplasm {ECO:0000269|PubMed:25394388, ECO:0000269|PubMed:25733715, ECO:0000269|PubMed:26787680}. Cell membrane, sarcolemma {ECO:0000269|PubMed:25394388}. Nucleus {ECO:0000269|PubMed:26787680}. Cell tip {ECO:0000269|PubMed:35959657}. Nucleus envelope {ECO:0000269|PubMed:35959657}. Note=Localizes in the intercalated disks which occur at the Z line of cardiomyocytes (By similarity). Localizes in the nucleus exclusively in differentiating cardiac progenitor cells and premature cardiomyocytes (PubMed:26787680). PKP2 is required for correct anchoring of DES at the cell tip and nuclear envelope (PubMed:35959657). {ECO:0000250|UniProtKB:P17661, ECO:0000269|PubMed:26787680, ECO:0000269|PubMed:35959657}.
uniprot
proteins