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P17661

- DESM_HUMAN

UniProt

P17661 - DESM_HUMAN

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Protein
Desmin
Gene
DES
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

GO - Molecular functioni

  1. cytoskeletal protein binding Source: BHF-UCL
  2. identical protein binding Source: IntAct
  3. protein binding Source: UniProtKB
  4. structural constituent of cytoskeleton Source: ProtInc
Complete GO annotation...

GO - Biological processi

  1. cytoskeleton organization Source: ProtInc
  2. muscle contraction Source: ProtInc
  3. muscle filament sliding Source: Reactome
  4. regulation of heart contraction Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Muscle protein

Enzyme and pathway databases

ReactomeiREACT_16969. Striated Muscle Contraction.

Names & Taxonomyi

Protein namesi
Recommended name:
Desmin
Gene namesi
Name:DES
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:2770. DES.

Subcellular locationi

GO - Cellular componenti

  1. Z disc Source: MGI
  2. cytosol Source: Reactome
  3. fascia adherens Source: Ensembl
  4. intermediate filament Source: ProtInc
  5. neuromuscular junction Source: Ensembl
  6. sarcolemma Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Intermediate filament

Pathology & Biotechi

Involvement in diseasei

Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]: A 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.
Note: 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 (1 Publication).20 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21S → I in MFM1; entirely similar expression patterns as the wild-type. 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
VAR_067208
Natural varianti46 – 461S → F in MFM1; entirely similar expression patterns as the wild-type. 1 Publication
Corresponds to variant rs60794845 [ dbSNP | Ensembl ].
VAR_042449
Natural varianti46 – 461S → Y in MFM1; entirely similar expression patterns as the wild-type. 1 Publication
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.
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.
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
VAR_067209
Natural varianti342 – 3421N → D in MFM1; unable to form a filamentous network; abolishes binding to MTM1. 3 Publications
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. 2 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.
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
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
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
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
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
VAR_069074
Natural varianti442 – 4421T → I in MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments. 1 Publication
VAR_042459
Natural varianti449 – 4491K → M in MFM1.
VAR_042460
Natural varianti449 – 4491K → T in MFM1; entirely similar expression patterns as the wild-type. 1 Publication
VAR_042461
Natural varianti451 – 4511I → M in CMD1I and MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments. 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, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments. 2 Publications
VAR_042462
Natural varianti460 – 4601S → I in MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments. 1 Publication
VAR_042463
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti451 – 4511I → M in CMD1I and MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments. 3 Publications
Corresponds to variant rs121913002 [ dbSNP | Ensembl ].
VAR_018773
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.
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. 2 Publications
Corresponds to variant rs57965306 [ dbSNP | Ensembl ].
VAR_042454
Limb-girdle muscular dystrophy 2R (LGMD2R) [MIM:615325]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Keywords - Diseasei

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

Organism-specific databases

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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 470470Desmin
PRO_0000063771Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei12 – 121Phosphoserine; by AURKB1 Publication
Modified residuei17 – 171Phosphothreonine; by AURKB1 Publication
Modified residuei58 – 581ADP-ribosylarginine By similarity
Modified residuei60 – 601Phosphoserine; by AURKB1 Publication
Modified residuei68 – 681Phosphoserine By similarity

Post-translational modificationi

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

Keywords - PTMi

ADP-ribosylation, Phosphoprotein

Proteomic databases

MaxQBiP17661.
PaxDbiP17661.
PRIDEiP17661.

2D gel databases

REPRODUCTION-2DPAGEiIPI00465084.
P17661.
SWISS-2DPAGEiP17661.
UCD-2DPAGEiP17661.

PTM databases

PhosphoSiteiP17661.

Expressioni

Gene expression databases

ArrayExpressiP17661.
BgeeiP17661.
GenevestigatoriP17661.

Organism-specific databases

HPAiCAB000034.
HPA018803.

Interactioni

Subunit structurei

Homopolymer. Interacts with DST By similarity. Interacts with MTM1.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
itself2EBI-1055572,EBI-1055572
DYSFO759233EBI-1055572,EBI-2799016
MLH1P406927EBI-1055572,EBI-744248
MTM1Q1349613EBI-1055572,EBI-2864109

Protein-protein interaction databases

BioGridi108038. 28 interactions.
IntActiP17661. 13 interactions.
MINTiMINT-215829.

Structurei

3D structure databases

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

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 108108Head
Add
BLAST
Regioni109 – 412304Rod
Add
BLAST
Regioni109 – 14133Coil 1A
Add
BLAST
Regioni142 – 15110Linker 1
Regioni152 – 252101Coil 1B
Add
BLAST
Regioni253 – 26816Linker 12
Add
BLAST
Regioni269 – 28719Coil 2A
Add
BLAST
Regioni288 – 2958Linker 2
Regioni296 – 412117Coil 2B
Add
BLAST
Regioni413 – 47058Tail
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG147125.
HOVERGENiHBG013015.
InParanoidiP17661.
KOiK07610.
OMAiSSEMHSK.
OrthoDBiEOG7FV3Q8.
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]
PROSITEiPS00226. IF. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P17661-1 [UniParc]FASTAAdd to Basket

« Hide

MSQAYSSSQR VSSYRRTFGG APGFPLGSPL SSPVFPRAGF GSKGSSSSVT    50
SRVYQVSRTS GGAGGLGSLR ASRLGTTRTP SSYGAGELLD FSLADAVNQE 100
FLTTRTNEKV ELQELNDRFA NYIEKVRFLE QQNAALAAEV NRLKGREPTR 150
VAELYEEELR ELRRQVEVLT NQRARVDVER DNLLDDLQRL KAKLQEEIQL 200
KEEAENNLAA FRADVDAATL ARIDLERRIE SLNEEIAFLK KVHEEEIREL 250
QAQLQEQQVQ VEMDMSKPDL TAALRDIRAQ YETIAAKNIS EAEEWYKSKV 300
SDLTQAANKN NDALRQAKQE MMEYRHQIQS YTCEIDALKG TNDSLMRQMR 350
ELEDRFASEA SGYQDNIARL EEEIRHLKDE MARHLREYQD LLNVKMALDV 400
EIATYRKLLE GEESRINLPI QTYSALNFRE TSPEQRGSEV HTKKTVMIKT 450
IETRDGEVVS EATQQQHEVL 470
Length:470
Mass (Da):53,536
Last modified:January 23, 2007 - v3
Checksum:i1B5D9EA93C3BB319
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21S → I in MFM1; entirely similar expression patterns as the wild-type. 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
VAR_067208
Natural varianti46 – 461S → F in MFM1; entirely similar expression patterns as the wild-type. 1 Publication
Corresponds to variant rs60794845 [ dbSNP | Ensembl ].
VAR_042449
Natural varianti46 – 461S → Y in MFM1; entirely similar expression patterns as the wild-type. 1 Publication
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.
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.
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
VAR_067209
Natural varianti342 – 3421N → D in MFM1; unable to form a filamentous network; abolishes binding to MTM1. 3 Publications
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. 2 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.
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
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
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
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
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
VAR_069074
Natural varianti442 – 4421T → I in MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments. 1 Publication
VAR_042459
Natural varianti449 – 4491K → M in MFM1.
VAR_042460
Natural varianti449 – 4491K → T in MFM1; entirely similar expression patterns as the wild-type. 1 Publication
VAR_042461
Natural varianti451 – 4511I → M in CMD1I and MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments. 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, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments. 2 Publications
VAR_042462
Natural varianti460 – 4601S → I in MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments. 1 Publication
VAR_042463

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti23 – 253GFP → VFS1 Publication
Sequence conflicti23 – 253GFP → VFS in AAA99221. 1 Publication
Sequence conflicti39 – 391G → P1 Publication
Sequence conflicti39 – 391G → P in AAA99221. 1 Publication
Sequence conflicti119 – 1235FANYI → SPIYM1 Publication
Sequence conflicti119 – 1235FANYI → SPIYM in AAA99221. 1 Publication
Sequence conflicti134 – 1341Missing1 Publication
Sequence conflicti134 – 1341Missing in AAA99221. 1 Publication
Sequence conflicti134 – 1341Missing in AAC50680. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UCSCiuc002vll.3. human.

Polymorphism databases

DMDMi6686280.

Cross-referencesi

Web resourcesi

Human Intermediate Filament Mutation Database
Wikipedia

Desmin entry

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS33383.1.
PIRi JE0063. DMHU.
RefSeqi NP_001918.3. NM_001927.3.
UniGenei Hs.594952.

3D structure databases

ProteinModelPortali P17661.
SMRi P17661. Positions 104-253, 268-411.
ModBasei Search...

Protein-protein interaction databases

BioGridi 108038. 28 interactions.
IntActi P17661. 13 interactions.
MINTi MINT-215829.

PTM databases

PhosphoSitei P17661.

Polymorphism databases

DMDMi 6686280.

2D gel databases

REPRODUCTION-2DPAGEi IPI00465084.
P17661.
SWISS-2DPAGEi P17661.
UCD-2DPAGEi P17661.

Proteomic databases

MaxQBi P17661.
PaxDbi P17661.
PRIDEi P17661.

Protocols and materials databases

DNASUi 1674.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000373960 ; ENSP00000363071 ; ENSG00000175084 .
GeneIDi 1674.
KEGGi hsa:1674.
UCSCi uc002vll.3. human.

Organism-specific databases

CTDi 1674.
GeneCardsi GC02P220283.
GeneReviewsi DES.
HGNCi HGNC:2770. DES.
HPAi CAB000034.
HPA018803.
MIMi 125660. gene.
181400. phenotype.
601419. phenotype.
604765. phenotype.
615325. phenotype.
neXtProti NX_P17661.
Orphaneti 34517. 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.
PharmGKBi PA27253.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG147125.
HOVERGENi HBG013015.
InParanoidi P17661.
KOi K07610.
OMAi SSEMHSK.
OrthoDBi EOG7FV3Q8.
PhylomeDBi P17661.
TreeFami TF330122.

Enzyme and pathway databases

Reactomei REACT_16969. Striated Muscle Contraction.

Miscellaneous databases

ChiTaRSi DES. human.
GeneWikii Desmin.
GenomeRNAii 1674.
NextBioi 6888.
PROi P17661.
SOURCEi Search...

Gene expression databases

ArrayExpressi P17661.
Bgeei P17661.
Genevestigatori P17661.

Family and domain databases

InterProi IPR027698. DES.
IPR001664. IF.
IPR006821. Intermed_filament_DNA-bd.
IPR018039. Intermediate_filament_CS.
[Graphical view ]
PANTHERi PTHR23239. PTHR23239. 1 hit.
PTHR23239:SF28. PTHR23239:SF28. 1 hit.
Pfami PF00038. Filament. 1 hit.
PF04732. Filament_head. 1 hit.
[Graphical view ]
PROSITEi PS00226. IF. 1 hit.
[Graphical view ]
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Publicationsi

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  1. "Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development."
    Li Z., Lilienbaum A., Butler-Browne G., Paulin D.
    Gene 78:243-254(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "High level desmin expression depends on a muscle-specific enhancer."
    Li Z., Paulin D.
    J. Biol. Chem. 266:6562-6570(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy."
    Vicart P., Dupret J.-M., Hazan J., Li Z., Gyapay G., Krishnamoorthy R., Weissenbach J., Fardeau M., Paulin D.
    Hum. Genet. 98:422-429(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Muscle.
  4. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS MFM1 PRO-337; PRO-360 AND ILE-393.
  5. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CMD1I MET-451.
  6. "Structural and functional analysis of a new desmin variant causing desmin-related myopathy."
    Goudeau B., Dagvadorj A., Rodrigues-Lima F., Nedellec P., Casteras-Simon M., Perret E., Langlois S., Goldfarb L., Vicart P.
    Hum. Mutat. 18:388-396(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT MFM1 PRO-389.
  7. "Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy."
    Kaminska A., Strelkov S.V., Goudeau B., Olive M., Dagvadorj A., Fidzianska A., Simon-Casteras M., Shatunov A., Dalakas M.C., Ferrer I., Kwiecinski H., Vicart P., Goldfarb L.G.
    Hum. Genet. 114:306-313(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS MFM1 ASP-342; PRO-357; 359-GLU--SER-361 DEL; ASN-366 DEL AND PRO-370, VARIANT VAL-213.
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Muscle.
  9. "A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation."
    Sjoeberg G., Saavedra-Matiz C.A., Rosen D.R., Wijsman E.M., Borg K., Horowitz S.H., Sejersen T.
    Hum. Mol. Genet. 8:2191-2198(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 337-353, VARIANT MFM1 PRO-345, CHARACTERIZATION OF VARIANT MFM1 PRO-345.
    Tissue: Skeletal muscle.
  10. "Functional significance of the specific sites phosphorylated in desmin at cleavage furrow: Aurora-B may phosphorylate and regulate type III intermediate filaments during cytokinesis coordinatedly with Rho-kinase."
    Kawajiri A., Yasui Y., Goto H., Tatsuka M., Takahashi M., Nagata K., Inagaki M.
    Mol. Biol. Cell 14:1489-1500(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-12; THR-17 AND SER-60.
  11. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. "Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle."
    Hnia K., Tronchere H., Tomczak K.K., Amoasii L., Schultz P., Beggs A.H., Payrastre B., Mandel J.L., Laporte J.
    J. Clin. Invest. 121:70-85(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH MTM1, CHARACTERIZATION OF VARIANTS ASP-342; PRO-357; PRO-360 AND PRO-370.
  13. Cited for: REVIEW ON VARIANTS MFM1.
  14. Cited for: REVIEW ON VARIANTS MFM1.
  15. "A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies."
    Cetin N., Balci-Hayta B., Gundesli H., Korkusuz P., Purali N., Talim B., Tan E., Selcen D., Erdem-Ozdamar S., Dincer P.
    J. Med. Genet. 50:437-443(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN LGMD2R.
  16. Cited for: VARIANT MFM1 173-ARG--GLU-179 DEL.
  17. "Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation."
    Park K.-Y., Dalakas M.C., Semino-Mora C., Lee H.-S., Litvak S., Takeda K., Ferrans V.J., Goldfarb L.G.
    Clin. Genet. 57:423-429(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MFM1 TRP-406.
  18. "A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates."
    Sugawara M., Kato K., Komatsu M., Wada C., Kawamura K., Shindo P.S., Yoshioka P.N., Tanaka K., Watanabe S., Toyoshima I.
    Neurology 55:986-990(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MFM1 PRO-385.
  19. "Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene."
    Dalakas M.C., Park K.-Y., Semino-Mora C., Lee H.S., Sivakumar K., Goldfarb L.G.
    N. Engl. J. Med. 342:770-780(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MFM1 PRO-337; ASP-342; PRO-360; ILE-393; TRP-406 AND MET-451, CHARACTERIZATION OF VARIANTS MFM1 PRO-337; ASP-342; PRO-360; ILE-393; TRP-406 AND MET-451.
  20. "On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria."
    Schroeder R., Goudeau B., Simon M.C., Fischer D., Eggermann T., Clemen C.S., Li Z., Reimann J., Xue Z., Rudnik-Schoeneborn S., Zerres K., van der Ven P.F., Fuerst D.O., Kunz W.S., Vicart P.
    Hum. Mol. Genet. 12:657-669(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MFM1 LYS-240 DEL, CHARACTERIZATION OF VARIANT MFM1 LYS-240 DEL.
  21. "Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin C-terminal alpha-helical segment."
    Dagvadorj A., Goudeau B., Hilton-Jones D., Blancato J.K., Shatunov A., Simon-Casteras M., Squier W., Nagle J.W., Goldfarb L.G., Vicart P.
    Muscle Nerve 27:669-675(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MFM1 PRO-357 AND PRO-370, CHARACTERIZATION OF VARIANTS MFM1 PRO-357 AND PRO-370.
  22. "Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients."
    Selcen D., Ohno K., Engel A.G.
    Brain 127:439-451(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MFM1 ILE-2; TYR-46; PHE-46 AND THR-449, CHARACTERIZATION OF VARIANTS MFM1 ILE-2; TYR-46; PHE-46 AND THR-449.
  23. "Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro."
    Baer H., Fischer D., Goudeau B., Kley R.A., Clemen C.S., Vicart P., Herrmann H., Vorgerd M., Schroeder R.
    Hum. Mol. Genet. 14:1251-1260(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MFM1 PRO-350, CHARACTERIZATION OF VARIANT MFM1 PRO-350.
  24. Cited for: VARIANT MFM1 PRO-355.
  25. Cited for: VARIANTS MFM1 ARG-338; TYR-399 AND LYS-401, VARIANT VAL-213, CHARACTERIZATION OF VARIANTS MFM1 ARG-338; PRO-360; ILE-393; TYR-399 AND LYS-401, CHARACTERIZATION OF VARIANT VAL-213.
  26. "Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P."
    Walter M.C., Reilich P., Huebner A., Fischer D., Schroeder R., Vorgerd M., Kress W., Born C., Schoser B.G., Krause K.H., Klutzny U., Bulst S., Frey J.R., Lochmueller H.
    Brain 130:1485-1496(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT KAESER SYNDROME PRO-350.
  27. Cited for: VARIANTS MFM1 ILE-442; TRP-454 AND ILE-460, CHARACTERIZATION OF VARIANTS MFM1 ILE-442; MET-451; TRP-454 AND ILE-460.
  28. "Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family."
    Pica E.C., Kathirvel P., Pramono Z.A., Lai P.S., Yee W.C.
    Neuromuscul. Disord. 18:178-182(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MFM1 PHE-13.
  29. Cited for: VARIANT MFM1 PHE-13, PHENOTYPIC VARIABILITY IN MFM1 PATIENTS.
  30. Cited for: VARIANT MFM1 SER-116, CHARACTERIZATION OF VARIANT MFM1 SER-116.
  31. "Desmin A213V substitution represents a rare polymorphism but not a mutation and is more prevalent in patients with heart dilation of various origins."
    Kostareva A., Sjoberg G., Gudkova A., Smolina N., Semernin E., Shlyakhto E., Sejersen T.
    Acta Myol. 30:42-45(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VAL-213.
  32. "Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy."
    Vattemi G., Neri M., Piffer S., Vicart P., Gualandi F., Marini M., Guglielmi V., Filosto M., Tonin P., Ferlini A., Tomelleri G.
    Acta Myol. 30:121-126(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MFM1 PHE-7 AND TRP-454.
  33. "Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation."
    Hedberg C., Melberg A., Kuhl A., Jenne D., Oldfors A.
    Eur. J. Hum. Genet. 20:984-985(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MFM1 SER-419.
  34. Cited for: VARIANTS VAL-213 AND GLU-241.

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 3, 2014
This is version 157 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

External Data

Dasty 3

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