DES
entrez
1674
canonical
uniprot
P17661
canonical
ensembl
ENSG00000175084
resolver
ensp
ENSP00000363071
resolver
ensp
ENSP00000539057
resolver
ensp
ENSP00000539061
resolver
ensp
ENSP00000793981
resolver
enst
ENST00000373960
resolver
genesymbol
DES
resolver
hgnc
HGNC:2770
resolver
uniprot
Q15787
resolver
uniprot
Q549R7
resolver
uniprot
Q549R8
resolver
uniprot
Q549R9
resolver
uniprot
Q8IZR1
resolver
uniprot
Q8IZR6
resolver
uniprot
Q8NES2
resolver
uniprot
Q8NEU6
resolver
uniprot
Q8TAC4
resolver
uniprot
Q8TCX2
resolver
uniprot
Q8TD99
resolver
uniprot
Q9UHN5
resolver
uniprot
Q9UJ80
resolver
uniprot_entry
DESM_HUMAN
resolver
uniprot_sec
Q15787
resolver
uniprot_sec
Q549R7
resolver
uniprot_sec
Q549R8
resolver
uniprot_sec
Q549R9
resolver
uniprot_sec
Q8IZR1
resolver
uniprot_sec
Q8IZR6
resolver
uniprot_sec
Q8NES2
resolver
uniprot_sec
Q8NEU6
resolver
uniprot_sec
Q8TAC4
resolver
uniprot_sec
Q8TCX2
resolver
uniprot_sec
Q8TD99
resolver
uniprot_sec
Q9UHN5
resolver
uniprot_sec
Q9UJ80
resolver
amino_acid_sequence
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTPSSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELRELRRQVEVLTNQRARVDVERDNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLKKVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALRQAKQEMMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFASEASGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRKLLEGEESRINLPIQTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL
uniprot
proteins
disease_involvement
DISEASE: Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM1 is characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, restrictive heart failure, and accumulation of desmin-reactive deposits in cardiac and skeletal muscle cells. {ECO:0000269|PubMed:10545598, ECO:0000269|PubMed:10717012, ECO:0000269|PubMed:10905661, ECO:0000269|PubMed:11061256, ECO:0000269|PubMed:11668632, ECO:0000269|PubMed:12620971, ECO:0000269|PubMed:12766977, ECO:0000269|PubMed:14648196, ECO:0000269|PubMed:14711882, ECO:0000269|PubMed:14724127, ECO:0000269|PubMed:15495235, ECO:0000269|PubMed:15800015, ECO:0000269|PubMed:16009553, ECO:0000269|PubMed:16376610, ECO:0000269|PubMed:16865695, ECO:0000269|PubMed:17221859, ECO:0000269|PubMed:18061454, ECO:0000269|PubMed:19879535, ECO:0000269|PubMed:20829228, ECO:0000269|PubMed:22106715, ECO:0000269|PubMed:22395865, ECO:0000269|PubMed:23615443, ECO:0000269|PubMed:23687351, ECO:0000269|PubMed:25208129, ECO:0000269|PubMed:25394388, ECO:0000269|PubMed:27733623, ECO:0000269|PubMed:28470624, ECO:0000269|PubMed:9697706, ECO:0000269|PubMed:9736733}. Note=The disease is caused by variants affecting the gene represented in this entry. Mutations in the DES gene are associated with a variable clinical phenotype which encompasses isolated myopathies, pure cardiac phenotypes (including dilated cardiomyopathy, restrictive cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy), cardiac conduction disease, and combinations of these disorders. If both cardiologic and neurologic features occur, they can manifest in any order, as cardiologic features can precede, occur simultaneously with, or follow manifestation of generalized neuromuscular disease (PubMed:19879535). {ECO:0000269|PubMed:19879535}.; DISEASE: Cardiomyopathy, dilated, 1I (CMD1I) [MIM:604765]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:10430757, ECO:0000269|PubMed:24200904, ECO:0000269|PubMed:26724190, ECO:0000269|PubMed:30262925}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [MIM:181400]: Autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy. A large clinical variability is observed ranging from scapuloperoneal, limb grindle and distal phenotypes with variable cardiac or respiratory involvement. Facial weakness, dysphagia and gynaecomastia are frequent additional symptoms. Affected men seemingly bear a higher risk of sudden, cardiac death as compared to affected women. Histological and immunohistochemical examination of muscle biopsy specimens reveal a wide spectrum of findings ranging from near normal or unspecific pathology to typical, myofibrillar changes with accumulation of desmin. {ECO:0000269|PubMed:17439987, ECO:0000269|PubMed:25394388}. Note=The disease is caused by variants affecting the gene represented in this entry.
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 (PubMed:25358400). 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:24200904, PubMed:25394388, PubMed:26724190). May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction. Required for nuclear membrane integrity, via anchoring at the cell tip and nuclear envelope, resulting in maintenance of microtubule-derived intracellular mechanical forces (By similarity). 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 (By similarity). {ECO:0000250|UniProtKB:P31001, ECO:0000269|PubMed:24200904, ECO:0000269|PubMed:25394388, ECO:0000269|PubMed:26724190, ECO:0000303|PubMed:25358400}.
uniprot
proteins
mass_dalton
53536
uniprot
proteins
mutagenesis
MUTAGEN 120; /note="A->E,R: Results in impaired filaments formation."; /evidence="ECO:0000269|PubMed:24200904"; MUTAGEN 120; /note="A->K,L,V: Does not result in impaired filaments formation."; /evidence="ECO:0000269|PubMed:24200904
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:0000250|UniProtKB:P31001}.; PTM: Ubiquitination by a SCF-like complex containing ASB2 isoform 1 leads to proteasomal degradation. {ECO:0000250|UniProtKB:P31001}.
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
10430757
uniprot
proteins
pubmed
10545598
uniprot
proteins
pubmed
10717012
uniprot
proteins
pubmed
10852826
uniprot
proteins
pubmed
10905661
uniprot
proteins
pubmed
11061256
uniprot
proteins
pubmed
11668632
uniprot
proteins
pubmed
12620971
uniprot
proteins
pubmed
12686604
uniprot
proteins
pubmed
12766977
uniprot
proteins
pubmed
14648196
uniprot
proteins
pubmed
14711882
uniprot
proteins
pubmed
14724127
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15495235
uniprot
proteins
pubmed
15800015
uniprot
proteins
pubmed
16009553
uniprot
proteins
pubmed
16376610
uniprot
proteins
pubmed
16865695
uniprot
proteins
pubmed
16923132
uniprot
proteins
pubmed
17221859
uniprot
proteins
pubmed
17439987
uniprot
proteins
pubmed
18061454
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19879535
uniprot
proteins
pubmed
2007603
uniprot
proteins
pubmed
20829228
uniprot
proteins
pubmed
21135508
uniprot
proteins
pubmed
21842594
uniprot
proteins
pubmed
22106715
uniprot
proteins
pubmed
22395865
uniprot
proteins
pubmed
23168288
uniprot
proteins
pubmed
23615443
uniprot
proteins
pubmed
23687351
uniprot
proteins
pubmed
24200904
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24413773
uniprot
proteins
pubmed
24940650
uniprot
proteins
pubmed
25208129
uniprot
proteins
pubmed
25358400
uniprot
proteins
pubmed
25394388
uniprot
proteins
pubmed
26724190
uniprot
proteins
pubmed
2673923
uniprot
proteins
pubmed
27565725
uniprot
proteins
pubmed
27733623
uniprot
proteins
pubmed
28470624
uniprot
proteins
pubmed
30262925
uniprot
proteins
pubmed
8792816
uniprot
proteins
pubmed
9697706
uniprot
proteins
pubmed
9736733
uniprot
proteins
pubmed
9875213
uniprot
proteins
sequence_length
470
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: 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}. Cell tip {ECO:0000250|UniProtKB:P31001}. Nucleus envelope {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). PKP2 is required for correct anchoring of DES at the cell tip and nuclear envelope (By similarity). {ECO:0000250|UniProtKB:P31001, ECO:0000269|PubMed:24200904, ECO:0000269|PubMed:26724190}.
uniprot
proteins