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P17661

- DESM_HUMAN

UniProt

P17661 - DESM_HUMAN

Protein

Desmin

Gene

DES

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 158 (01 Oct 2014)
      Sequence version 3 (23 Jan 2007)
      Previous versions | rss
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    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

    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

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

    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.20 Publications
    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 (PubMed:19879535).1 Publication
    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. 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.
    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. 2 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. 2 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. 2 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. 2 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. 2 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. 2 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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. 2 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.1 Publication
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    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 – 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 residuei58 – 581ADP-ribosylarginineBy similarity
    Modified residuei60 – 601Phosphoserine; by AURKB1 Publication
    Modified residuei68 – 681PhosphoserineBy 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-2DPAGEIPI00465084.
    P17661.
    SWISS-2DPAGEP17661.
    UCD-2DPAGEP17661.

    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.By similarity1 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.
    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

    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

    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; 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. 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.
    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. 2 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. 2 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. 2 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. 2 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. 2 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. 2 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 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...
    MobiDBi 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-2DPAGE IPI00465084.
    P17661.
    SWISS-2DPAGE P17661.
    UCD-2DPAGE 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 ]
    ProtoNeti Search...

    Publicationsi

    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: October 1, 2014
    This is version 158 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