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Protein

Desmin

Gene

DES

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Desmin are class-III intermediate filaments found in muscle cells. 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, PubMed:24200904, PubMed:26724190).3 Publications

GO - Molecular functioni

  • cytoskeletal protein binding Source: BHF-UCL
  • identical protein binding Source: IntAct
  • structural constituent of cytoskeleton Source: ProtInc

GO - Biological processi

  • cytoskeleton organization Source: ProtInc
  • intermediate filament organization Source: UniProtKB
  • muscle contraction Source: ProtInc
  • muscle filament sliding Source: Reactome
  • regulation of heart contraction Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Muscle protein

Enzyme and pathway databases

ReactomeiR-HSA-390522. Striated Muscle Contraction.
SIGNORiP17661.

Names & Taxonomyi

Protein namesi
Recommended name:
Desmin
Gene namesi
Name:DES
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:2770. DES.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
  • fascia adherens Source: Ensembl
  • intercalated disc Source: UniProtKB
  • intermediate filament Source: ProtInc
  • intermediate filament cytoskeleton Source: HPA
  • neuromuscular junction Source: Ensembl
  • sarcolemma Source: UniProtKB
  • Z disc Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Intermediate filament, Membrane

Pathology & Biotechi

Involvement in diseasei

Myopathy, myofibrillar, 1 (MFM1)21 Publications
The disease is caused by mutations 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).1 Publication
Disease descriptionA neuromuscular disorder characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, restrictive heart failure, and by myofibrillar destruction with intracytoplasmic accumulation of desmin-reactive deposits in cardiac and skeletal muscle cells.
See also OMIM:601419
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21S → I in MFM1. 1 Publication
Corresponds to variant rs58999456 [ dbSNP | Ensembl ].
VAR_042448
Natural varianti7 – 71S → F in MFM1. 1 Publication
VAR_067207
Natural varianti13 – 131S → F in MFM1; some patients manifest a severe cardiac phenotype with right ventricular predominance. 2 Publications
Corresponds to variant rs62636495 [ dbSNP | Ensembl ].
VAR_067208
Natural varianti46 – 461S → F in MFM1. 1 Publication
Corresponds to variant rs60794845 [ dbSNP | Ensembl ].
VAR_042449
Natural varianti46 – 461S → Y in MFM1. 1 Publication
Corresponds to variant rs60794845 [ dbSNP | Ensembl ].
VAR_042450
Natural varianti116 – 1161N → S in MFM1; the clinical picture is dominated by arrhythmogenic right ventricular cardiomyopathy and terminal heart failure; results in impaired filaments formation. 1 Publication
Corresponds to variant rs267607499 [ dbSNP | Ensembl ].
VAR_069191
Natural varianti173 – 1797Missing in MFM1; severe form. 1 Publication
VAR_009188
Natural varianti240 – 2401Missing in MFM1; the mutant cannot form de novo desmin intermediate filaments causing disruption of the endogenous intermediate filament network and formation of pathologic aggregates. 1 Publication
VAR_070101
Natural varianti245 – 2451E → D in MFM1.
Corresponds to variant rs267607486 [ dbSNP | Ensembl ].
VAR_042452
Natural varianti337 – 3371A → P in MFM1; mild adult-onset; unable to form a functional filamentous network. 2 Publications
Corresponds to variant rs59962885 [ dbSNP | Ensembl ].
VAR_007900
Natural varianti338 – 3381L → R in MFM1; results in the formation of a filamentous network disrupted by multiple breaks and clumps or large aggregates. 1 Publication
Corresponds to variant rs57496341 [ dbSNP | Ensembl ].
VAR_067209
Natural varianti342 – 3421N → D in MFM1; unable to form a filamentous network; abolishes binding to MTM1. 3 Publications
Corresponds to variant rs267607482 [ dbSNP | Ensembl ].
VAR_042453
Natural varianti345 – 3451L → P in MFM1; distal onset; incapable of forming filamentous networks. 1 Publication
Corresponds to variant rs57639980 [ dbSNP | Ensembl ].
VAR_009189
Natural varianti350 – 3501R → P in Kaeser syndrome and MFM1; incapable of de novo formation of a desmin intermediate filaments network; exerts a dominant negative effect on the ordered lateral arrangement of desmin subunits; may produce structural changes; forms subsarcolemmal aggregates. 3 Publications
Corresponds to variant rs57965306 [ dbSNP | Ensembl ].
VAR_042454
Natural varianti355 – 3551R → P in MFM1. 1 Publication
Corresponds to variant rs61368398 [ dbSNP | Ensembl ].
VAR_042455
Natural varianti357 – 3571A → P in MFM1; unable to polymerize and form an intracellular filamentous network; abolishes binding to MTM1. 3 Publications
Corresponds to variant rs58898021 [ dbSNP | Ensembl ].
VAR_042456
Natural varianti359 – 3613Missing in MFM1. 1 Publication
VAR_018769
Natural varianti360 – 3601A → P in MFM1; heterozygous with I-393 gives a severe childhood-onset; unable to form a functional filamentous network in the presence of I-393; abolishes binding to MTM1. 4 Publications
Corresponds to variant rs121913000 [ dbSNP | Ensembl ].
VAR_007901
Natural varianti366 – 3661Missing in MFM1. 1 Publication
VAR_018770
Natural varianti370 – 3701L → P in MFM1; unable to polymerize and form an intracellular filamentous network; does not affect binding to MTM1. 3 Publications
Corresponds to variant rs59308628 [ dbSNP | Ensembl ].
VAR_042457
Natural varianti385 – 3851L → P in MFM1. 1 Publication
Corresponds to variant rs57955682 [ dbSNP | Ensembl ].
VAR_018771
Natural varianti389 – 3891Q → P in MFM1. 1 Publication
Corresponds to variant rs28930075 [ dbSNP | Ensembl ].
VAR_018772
Natural varianti393 – 3931N → I in MFM1; heterozygous with P-360 gives a severe childhood-onset; unable to form a functional filamentous network in the presence of P-360. 3 Publications
Corresponds to variant rs121913001 [ dbSNP | Ensembl ].
VAR_007902
Natural varianti399 – 3991D → Y in MFM1; results in the formation of a filamentous network disrupted by multiple breaks and clumps or large aggregates. 1 Publication
Corresponds to variant rs61130669 [ dbSNP | Ensembl ].
VAR_067210
Natural varianti401 – 4011E → K in MFM1; results in the formation of a filamentous network disrupted by multiple breaks and clumps or large aggregates. 1 Publication
Corresponds to variant rs57694264 [ dbSNP | Ensembl ].
VAR_067211
Natural varianti406 – 4061R → W in MFM1; unable to form a filamentous network. 2 Publications
Corresponds to variant rs61726465 [ dbSNP | Ensembl ].
VAR_042458
Natural varianti419 – 4191P → S in MFM1; found in a family with myofibrillar myopathy and arrhythmogenic right ventricular cardiomyopathy. 1 Publication
Corresponds to variant rs62635763 [ dbSNP | Ensembl ].
VAR_069074
Natural varianti442 – 4421T → I in MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions. 1 Publication
Corresponds to variant rs121913005 [ dbSNP | Ensembl ].
VAR_042459
Natural varianti449 – 4491K → M in MFM1.
VAR_042460
Natural varianti449 – 4491K → T in MFM1. 1 Publication
Corresponds to variant rs267607485 [ dbSNP | Ensembl ].
VAR_042461
Natural varianti451 – 4511I → M in CMD1I and MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions. 3 Publications
Corresponds to variant rs121913002 [ dbSNP | Ensembl ].
VAR_018773
Natural varianti454 – 4541R → W in MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions. 2 Publications
Corresponds to variant rs267607490 [ dbSNP | Ensembl ].
VAR_042462
Natural varianti460 – 4601S → I in MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions. 1 Publication
Corresponds to variant rs267607491 [ dbSNP | Ensembl ].
VAR_042463
Cardiomyopathy, dilated 1I (CMD1I)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
See also OMIM:604765
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti120 – 1201A → D in CMD1I; results in impaired filaments formation, does not localize at intercalated disks. 1 Publication
VAR_075228
Natural varianti136 – 1361L → P in CMD1I; results in impaired filaments formation, does not localize at intercalated disks. 1 Publication
VAR_075229
Natural varianti451 – 4511I → M in CMD1I and MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions. 3 Publications
Corresponds to variant rs121913002 [ dbSNP | Ensembl ].
VAR_018773
Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal 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.
See also OMIM:181400
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti350 – 3501R → P in Kaeser syndrome and MFM1; incapable of de novo formation of a desmin intermediate filaments network; exerts a dominant negative effect on the ordered lateral arrangement of desmin subunits; may produce structural changes; forms subsarcolemmal aggregates. 3 Publications
Corresponds to variant rs57965306 [ dbSNP | Ensembl ].
VAR_042454
Limb-girdle muscular dystrophy 2R (LGMD2R)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of limb-girdle muscular dystrophy, a disease characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy.
See also OMIM:615325

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi120 – 1201A → E or R: Results in impaired filaments formation. 1 Publication
Mutagenesisi120 – 1201A → K, L or V: Does not result in impaired filaments formation. 1 Publication

Keywords - Diseasei

Cardiomyopathy, Desmin-related myopathy, Disease mutation, Limb-girdle muscular dystrophy, Myofibrillar myopathy

Organism-specific databases

MalaCardsiDES.
MIMi181400. phenotype.
601419. phenotype.
604765. phenotype.
615325. phenotype.
Orphaneti34517. Autosomal dominant limb-girdle muscular dystrophy type 1E.
363543. Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency.
98909. Desminopathy.
154. Familial isolated dilated cardiomyopathy.
85146. Scapuloperoneal amyotrophy.
PharmGKBiPA27253.

Polymorphism and mutation databases

BioMutaiDES.
DMDMi6686280.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 470470DesminPRO_0000063771Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei12 – 121Phosphoserine; by AURKB1 Publication
Modified residuei17 – 171Phosphothreonine; by AURKB1 Publication
Modified residuei28 – 281PhosphoserineCombined sources
Modified residuei31 – 311PhosphoserineBy similarity
Modified residuei32 – 321PhosphoserineBy similarity
Modified residuei45 – 451PhosphoserineBy similarity
Modified residuei58 – 581ADP-ribosylarginineBy similarity
Modified residuei60 – 601Phosphoserine; by AURKB1 Publication
Modified residuei68 – 681PhosphoserineBy similarity
Modified residuei81 – 811PhosphoserineBy similarity
Modified residuei290 – 2901PhosphoserineBy similarity
Modified residuei358 – 3581PhosphoserineBy similarity
Modified residuei361 – 3611PhosphoserineBy similarity
Modified residuei424 – 4241PhosphoserineBy similarity

Post-translational modificationi

ADP-ribosylation prevents ability to form intermediate filaments.By similarity

Keywords - PTMi

ADP-ribosylation, Phosphoprotein

Proteomic databases

EPDiP17661.
PaxDbiP17661.
PeptideAtlasiP17661.
PRIDEiP17661.

2D gel databases

REPRODUCTION-2DPAGEIPI00465084.
P17661.
SWISS-2DPAGEP17661.
UCD-2DPAGEP17661.

PTM databases

iPTMnetiP17661.
PhosphoSiteiP17661.
SwissPalmiP17661.

Expressioni

Gene expression databases

BgeeiENSG00000175084.
ExpressionAtlasiP17661. baseline and differential.
GenevisibleiP17661. HS.

Organism-specific databases

HPAiCAB000034.
HPA018803.

Interactioni

Subunit structurei

Homopolymer. Interacts with DST (By similarity). Interacts with MTM1.By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
itself2EBI-1055572,EBI-1055572
DUX1O438124EBI-1055572,EBI-11599346
DUX4Q9UBX23EBI-1055572,EBI-11600078
DUX4L9Q6RFH84EBI-1055572,EBI-11599882
DYSFO759233EBI-1055572,EBI-2799016
EHHADHQ084263EBI-1055572,EBI-2339219
MLH1P406927EBI-1055572,EBI-744248
MTM1Q1349613EBI-1055572,EBI-2864109
PPP1R18Q6NYC83EBI-1055572,EBI-2557469
UBE2IQ7KZS03EBI-1055572,EBI-10180829

GO - Molecular functioni

  • cytoskeletal protein binding Source: BHF-UCL
  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi108038. 39 interactions.
IntActiP17661. 24 interactions.
MINTiMINT-215829.
STRINGi9606.ENSP00000363071.

Structurei

3D structure databases

ProteinModelPortaliP17661.
SMRiP17661. Positions 104-253, 268-411.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 108108HeadAdd
BLAST
Regioni109 – 412304RodAdd
BLAST
Regioni109 – 14133Coil 1AAdd
BLAST
Regioni142 – 15110Linker 1
Regioni152 – 252101Coil 1BAdd
BLAST
Regioni253 – 26816Linker 12Add
BLAST
Regioni269 – 28719Coil 2AAdd
BLAST
Regioni288 – 2958Linker 2
Regioni296 – 412117Coil 2BAdd
BLAST
Regioni413 – 47058TailAdd
BLAST

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IFZ1. Eukaryota.
ENOG410XRBS. LUCA.
GeneTreeiENSGT00830000128228.
HOVERGENiHBG013015.
InParanoidiP17661.
KOiK07610.
OMAiHIHTHAG.
OrthoDBiEOG091G12MK.
PhylomeDBiP17661.
TreeFamiTF330122.

Family and domain databases

InterProiIPR027698. DES.
IPR001664. IF.
IPR006821. Intermed_filament_DNA-bd.
IPR018039. Intermediate_filament_CS.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PTHR23239:SF28. PTHR23239:SF28. 1 hit.
PfamiPF00038. Filament. 1 hit.
PF04732. Filament_head. 1 hit.
[Graphical view]
SMARTiSM01391. Filament. 1 hit.
[Graphical view]
PROSITEiPS00226. IF. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P17661-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSQAYSSSQR VSSYRRTFGG APGFPLGSPL SSPVFPRAGF GSKGSSSSVT
60 70 80 90 100
SRVYQVSRTS GGAGGLGSLR ASRLGTTRTP SSYGAGELLD FSLADAVNQE
110 120 130 140 150
FLTTRTNEKV ELQELNDRFA NYIEKVRFLE QQNAALAAEV NRLKGREPTR
160 170 180 190 200
VAELYEEELR ELRRQVEVLT NQRARVDVER DNLLDDLQRL KAKLQEEIQL
210 220 230 240 250
KEEAENNLAA FRADVDAATL ARIDLERRIE SLNEEIAFLK KVHEEEIREL
260 270 280 290 300
QAQLQEQQVQ VEMDMSKPDL TAALRDIRAQ YETIAAKNIS EAEEWYKSKV
310 320 330 340 350
SDLTQAANKN NDALRQAKQE MMEYRHQIQS YTCEIDALKG TNDSLMRQMR
360 370 380 390 400
ELEDRFASEA SGYQDNIARL EEEIRHLKDE MARHLREYQD LLNVKMALDV
410 420 430 440 450
EIATYRKLLE GEESRINLPI QTYSALNFRE TSPEQRGSEV HTKKTVMIKT
460 470
IETRDGEVVS EATQQQHEVL
Length:470
Mass (Da):53,536
Last modified:January 23, 2007 - v3
Checksum:i1B5D9EA93C3BB319
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti23 – 253GFP → VFS (PubMed:2673923).Curated
Sequence conflicti23 – 253GFP → VFS in AAA99221 (PubMed:2007603).Curated
Sequence conflicti39 – 391G → P (PubMed:2673923).Curated
Sequence conflicti39 – 391G → P in AAA99221 (PubMed:2007603).Curated
Sequence conflicti119 – 1235FANYI → SPIYM (PubMed:2673923).Curated
Sequence conflicti119 – 1235FANYI → SPIYM in AAA99221 (PubMed:2007603).Curated
Sequence conflicti134 – 1341Missing (PubMed:2673923).Curated
Sequence conflicti134 – 1341Missing in AAA99221 (PubMed:2007603).Curated
Sequence conflicti134 – 1341Missing in AAC50680 (PubMed:8792816).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21S → I in MFM1. 1 Publication
Corresponds to variant rs58999456 [ dbSNP | Ensembl ].
VAR_042448
Natural varianti7 – 71S → F in MFM1. 1 Publication
VAR_067207
Natural varianti13 – 131S → F in MFM1; some patients manifest a severe cardiac phenotype with right ventricular predominance. 2 Publications
Corresponds to variant rs62636495 [ dbSNP | Ensembl ].
VAR_067208
Natural varianti46 – 461S → F in MFM1. 1 Publication
Corresponds to variant rs60794845 [ dbSNP | Ensembl ].
VAR_042449
Natural varianti46 – 461S → Y in MFM1. 1 Publication
Corresponds to variant rs60794845 [ dbSNP | Ensembl ].
VAR_042450
Natural varianti116 – 1161N → S in MFM1; the clinical picture is dominated by arrhythmogenic right ventricular cardiomyopathy and terminal heart failure; results in impaired filaments formation. 1 Publication
Corresponds to variant rs267607499 [ dbSNP | Ensembl ].
VAR_069191
Natural varianti120 – 1201A → D in CMD1I; results in impaired filaments formation, does not localize at intercalated disks. 1 Publication
VAR_075228
Natural varianti136 – 1361L → P in CMD1I; results in impaired filaments formation, does not localize at intercalated disks. 1 Publication
VAR_075229
Natural varianti173 – 1797Missing in MFM1; severe form. 1 Publication
VAR_009188
Natural varianti213 – 2131A → V Rare polymorphism; may play a role in cardiomyopathies and distal myopathies if combined with other DES mutations or mutations in other genes; does not affect the formation of a normal complete filamentous network. 4 Publications
Corresponds to variant rs41272699 [ dbSNP | Ensembl ].
VAR_042451
Natural varianti240 – 2401Missing in MFM1; the mutant cannot form de novo desmin intermediate filaments causing disruption of the endogenous intermediate filament network and formation of pathologic aggregates. 1 Publication
VAR_070101
Natural varianti241 – 2411K → E Found in a patient with severe arrhythmogenic right ventricular cardiomyopathy also carrying a pathogenic frameshift mutation in PKP2. 1 Publication
Corresponds to variant rs201945924 [ dbSNP | Ensembl ].
VAR_069192
Natural varianti245 – 2451E → D in MFM1.
Corresponds to variant rs267607486 [ dbSNP | Ensembl ].
VAR_042452
Natural varianti326 – 3261H → R Rare polymorphism; does not result in impaired filaments formation. 1 Publication
VAR_075230
Natural varianti337 – 3371A → P in MFM1; mild adult-onset; unable to form a functional filamentous network. 2 Publications
Corresponds to variant rs59962885 [ dbSNP | Ensembl ].
VAR_007900
Natural varianti338 – 3381L → R in MFM1; results in the formation of a filamentous network disrupted by multiple breaks and clumps or large aggregates. 1 Publication
Corresponds to variant rs57496341 [ dbSNP | Ensembl ].
VAR_067209
Natural varianti342 – 3421N → D in MFM1; unable to form a filamentous network; abolishes binding to MTM1. 3 Publications
Corresponds to variant rs267607482 [ dbSNP | Ensembl ].
VAR_042453
Natural varianti345 – 3451L → P in MFM1; distal onset; incapable of forming filamentous networks. 1 Publication
Corresponds to variant rs57639980 [ dbSNP | Ensembl ].
VAR_009189
Natural varianti350 – 3501R → P in Kaeser syndrome and MFM1; incapable of de novo formation of a desmin intermediate filaments network; exerts a dominant negative effect on the ordered lateral arrangement of desmin subunits; may produce structural changes; forms subsarcolemmal aggregates. 3 Publications
Corresponds to variant rs57965306 [ dbSNP | Ensembl ].
VAR_042454
Natural varianti355 – 3551R → P in MFM1. 1 Publication
Corresponds to variant rs61368398 [ dbSNP | Ensembl ].
VAR_042455
Natural varianti357 – 3571A → P in MFM1; unable to polymerize and form an intracellular filamentous network; abolishes binding to MTM1. 3 Publications
Corresponds to variant rs58898021 [ dbSNP | Ensembl ].
VAR_042456
Natural varianti359 – 3613Missing in MFM1. 1 Publication
VAR_018769
Natural varianti360 – 3601A → P in MFM1; heterozygous with I-393 gives a severe childhood-onset; unable to form a functional filamentous network in the presence of I-393; abolishes binding to MTM1. 4 Publications
Corresponds to variant rs121913000 [ dbSNP | Ensembl ].
VAR_007901
Natural varianti366 – 3661Missing in MFM1. 1 Publication
VAR_018770
Natural varianti370 – 3701L → P in MFM1; unable to polymerize and form an intracellular filamentous network; does not affect binding to MTM1. 3 Publications
Corresponds to variant rs59308628 [ dbSNP | Ensembl ].
VAR_042457
Natural varianti385 – 3851L → P in MFM1. 1 Publication
Corresponds to variant rs57955682 [ dbSNP | Ensembl ].
VAR_018771
Natural varianti389 – 3891Q → P in MFM1. 1 Publication
Corresponds to variant rs28930075 [ dbSNP | Ensembl ].
VAR_018772
Natural varianti393 – 3931N → I in MFM1; heterozygous with P-360 gives a severe childhood-onset; unable to form a functional filamentous network in the presence of P-360. 3 Publications
Corresponds to variant rs121913001 [ dbSNP | Ensembl ].
VAR_007902
Natural varianti399 – 3991D → Y in MFM1; results in the formation of a filamentous network disrupted by multiple breaks and clumps or large aggregates. 1 Publication
Corresponds to variant rs61130669 [ dbSNP | Ensembl ].
VAR_067210
Natural varianti401 – 4011E → K in MFM1; results in the formation of a filamentous network disrupted by multiple breaks and clumps or large aggregates. 1 Publication
Corresponds to variant rs57694264 [ dbSNP | Ensembl ].
VAR_067211
Natural varianti406 – 4061R → W in MFM1; unable to form a filamentous network. 2 Publications
Corresponds to variant rs61726465 [ dbSNP | Ensembl ].
VAR_042458
Natural varianti419 – 4191P → S in MFM1; found in a family with myofibrillar myopathy and arrhythmogenic right ventricular cardiomyopathy. 1 Publication
Corresponds to variant rs62635763 [ dbSNP | Ensembl ].
VAR_069074
Natural varianti442 – 4421T → I in MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions. 1 Publication
Corresponds to variant rs121913005 [ dbSNP | Ensembl ].
VAR_042459
Natural varianti449 – 4491K → M in MFM1.
VAR_042460
Natural varianti449 – 4491K → T in MFM1. 1 Publication
Corresponds to variant rs267607485 [ dbSNP | Ensembl ].
VAR_042461
Natural varianti451 – 4511I → M in CMD1I and MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions. 3 Publications
Corresponds to variant rs121913002 [ dbSNP | Ensembl ].
VAR_018773
Natural varianti454 – 4541R → W in MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions. 2 Publications
Corresponds to variant rs267607490 [ dbSNP | Ensembl ].
VAR_042462
Natural varianti460 – 4601S → I in MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions. 1 Publication
Corresponds to variant rs267607491 [ dbSNP | Ensembl ].
VAR_042463

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M63391 Genomic DNA. Translation: AAA99221.1.
U59167 mRNA. Translation: AAC50680.1.
AF055081 mRNA. Translation: AAC39938.1.
AF055082 mRNA. Translation: AAC39939.1.
AF055083 mRNA. Translation: AAC39940.1.
AF137053 mRNA. Translation: AAF15400.1.
AF486807 mRNA. Translation: AAL93205.1.
AF487828 mRNA. Translation: AAL99078.1.
AF521879 mRNA. Translation: AAN15036.1.
AF527578 mRNA. Translation: AAN37810.1.
AY083345 mRNA. Translation: AAL99215.1.
AY114212 Genomic DNA. Translation: AAM47026.1.
AY125465 mRNA. Translation: AAM95238.1.
BC032116 mRNA. Translation: AAH32116.1.
AJ132926 mRNA. Translation: CAB62389.1.
CCDSiCCDS33383.1.
PIRiJE0063. DMHU.
RefSeqiNP_001918.3. NM_001927.3.
UniGeneiHs.594952.

Genome annotation databases

EnsembliENST00000373960; ENSP00000363071; ENSG00000175084.
GeneIDi1674.
KEGGihsa:1674.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Human Intermediate Filament Mutation Database
Wikipedia

Desmin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M63391 Genomic DNA. Translation: AAA99221.1.
U59167 mRNA. Translation: AAC50680.1.
AF055081 mRNA. Translation: AAC39938.1.
AF055082 mRNA. Translation: AAC39939.1.
AF055083 mRNA. Translation: AAC39940.1.
AF137053 mRNA. Translation: AAF15400.1.
AF486807 mRNA. Translation: AAL93205.1.
AF487828 mRNA. Translation: AAL99078.1.
AF521879 mRNA. Translation: AAN15036.1.
AF527578 mRNA. Translation: AAN37810.1.
AY083345 mRNA. Translation: AAL99215.1.
AY114212 Genomic DNA. Translation: AAM47026.1.
AY125465 mRNA. Translation: AAM95238.1.
BC032116 mRNA. Translation: AAH32116.1.
AJ132926 mRNA. Translation: CAB62389.1.
CCDSiCCDS33383.1.
PIRiJE0063. DMHU.
RefSeqiNP_001918.3. NM_001927.3.
UniGeneiHs.594952.

3D structure databases

ProteinModelPortaliP17661.
SMRiP17661. Positions 104-253, 268-411.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108038. 39 interactions.
IntActiP17661. 24 interactions.
MINTiMINT-215829.
STRINGi9606.ENSP00000363071.

PTM databases

iPTMnetiP17661.
PhosphoSiteiP17661.
SwissPalmiP17661.

Polymorphism and mutation databases

BioMutaiDES.
DMDMi6686280.

2D gel databases

REPRODUCTION-2DPAGEIPI00465084.
P17661.
SWISS-2DPAGEP17661.
UCD-2DPAGEP17661.

Proteomic databases

EPDiP17661.
PaxDbiP17661.
PeptideAtlasiP17661.
PRIDEiP17661.

Protocols and materials databases

DNASUi1674.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373960; ENSP00000363071; ENSG00000175084.
GeneIDi1674.
KEGGihsa:1674.

Organism-specific databases

CTDi1674.
GeneCardsiDES.
GeneReviewsiDES.
HGNCiHGNC:2770. DES.
HPAiCAB000034.
HPA018803.
MalaCardsiDES.
MIMi125660. gene.
181400. phenotype.
601419. phenotype.
604765. phenotype.
615325. phenotype.
neXtProtiNX_P17661.
Orphaneti34517. Autosomal dominant limb-girdle muscular dystrophy type 1E.
363543. Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency.
98909. Desminopathy.
154. Familial isolated dilated cardiomyopathy.
85146. Scapuloperoneal amyotrophy.
PharmGKBiPA27253.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFZ1. Eukaryota.
ENOG410XRBS. LUCA.
GeneTreeiENSGT00830000128228.
HOVERGENiHBG013015.
InParanoidiP17661.
KOiK07610.
OMAiHIHTHAG.
OrthoDBiEOG091G12MK.
PhylomeDBiP17661.
TreeFamiTF330122.

Enzyme and pathway databases

ReactomeiR-HSA-390522. Striated Muscle Contraction.
SIGNORiP17661.

Miscellaneous databases

ChiTaRSiDES. human.
GeneWikiiDesmin.
GenomeRNAii1674.
PROiP17661.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000175084.
ExpressionAtlasiP17661. baseline and differential.
GenevisibleiP17661. HS.

Family and domain databases

InterProiIPR027698. DES.
IPR001664. IF.
IPR006821. Intermed_filament_DNA-bd.
IPR018039. Intermediate_filament_CS.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PTHR23239:SF28. PTHR23239:SF28. 1 hit.
PfamiPF00038. Filament. 1 hit.
PF04732. Filament_head. 1 hit.
[Graphical view]
SMARTiSM01391. Filament. 1 hit.
[Graphical view]
PROSITEiPS00226. IF. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDESM_HUMAN
AccessioniPrimary (citable) accession number: P17661
Secondary accession number(s): Q15787
, Q549R7, Q549R8, Q549R9, Q8IZR1, Q8IZR6, Q8NES2, Q8NEU6, Q8TAC4, Q8TCX2, Q8TD99, Q9UHN5, Q9UJ80
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: January 23, 2007
Last modified: September 7, 2016
This is version 180 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.