Entity Details

Primary name DESM_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP17661
EntryNameDESM_HUMAN
FullNameDesmin
TaxID9606
Evidenceevidence at protein level
Length470
SequenceStatuscomplete
DateCreated1990-08-01
DateModified2021-06-02

Ontological Relatives

GenesDES

GO terms

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GOName
GO:0005200 structural constituent of cytoskeleton
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005882 intermediate filament
GO:0005916 fascia adherens
GO:0006936 muscle contraction
GO:0007010 cytoskeleton organization
GO:0008016 regulation of heart contraction
GO:0008092 cytoskeletal protein binding
GO:0014704 intercalated disc
GO:0030018 Z disc
GO:0030049 muscle filament sliding
GO:0031594 neuromuscular junction
GO:0042383 sarcolemma
GO:0042802 identical protein binding
GO:0045109 intermediate filament organization
GO:0045111 intermediate filament cytoskeleton
GO:0070062 extracellular exosome
GO:0097512 cardiac myofibril

Subcellular Location

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Subcellular Location
Cell membrane
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR006821 Intermediate filament head, DNA-binding domainDomainDomain
IPR018039 Intermediate filament protein, conserved siteSiteConserved site
IPR039008 Intermediate filament, rod domainDomainDomain

Diseases

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Disease IDSourceNameDescription
601419 OMIMMyopathy, myofibrillar, 1 (MFM1)A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM1 is characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, restrictive heart failure, and accumulation of desmin-reactive deposits in cardiac and skeletal muscle cells. The disease is caused by variants affecting the gene represented in this entry. Mutations in the DES gene are associated with a variable clinical phenotype which encompasses isolated myopathies, pure cardiac phenotypes (including dilated cardiomyopathy, restrictive cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy), cardiac conduction disease, and combinations of these disorders. If both cardiologic and neurologic features occur, they can manifest in any order, as cardiologic features can precede, occur simultaneously with, or follow manifestation of generalized neuromuscular disease (PubMed:19879535).
604765 OMIMCardiomyopathy, dilated 1I (CMD1I)A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry.
181400 OMIMNeurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

73 interactions

InteractorPartnerSourcesPublicationsLink
DESM_HUMANTRI63_HUMANBioGRID, MINT18157088 details
DESM_HUMANSMUF2_HUMANMINT18157088 details
DESM_HUMANMLH1_HUMANBioGRID, IntAct20706999 details
DESM_HUMANDYSF_HUMANBioGRID, IntAct23414517 details
DESM_HUMANCLIP4_HUMANBioGRID, IntAct23414517 details
DESM_HUMANENOA_HUMANBioGRID, IntAct23414517 details
DESM_HUMANSNAPN_HUMANBioGRID, IntAct23414517 details
DESM_HUMANMTM1_HUMANUniProt21135508 details
DESM_HUMANDESM_HUMANBioGRID, IntAct, UniProt21135508 32296183 details
DESM_HUMANHSPB1_HUMANBioGRID, IntAct25277244 details
DESM_HUMANECHP_HUMANBioGRID, IntAct25416956 32296183 details
DESM_HUMANPPR18_HUMANBioGRID, IntAct25416956 30886144 32296183 details
DESM_HUMANNFL_HUMANBioGRID, IntAct26871637 27107012 32296183 details
DESM_HUMANDUX1_HUMANBioGRID, IntAct26816005 details
DESM_HUMANDUX4C_HUMANIntAct26816005 details
DESM_HUMANDUX4_HUMANBioGRID, IntAct26816005 details
DESM_HUMANVIME_HUMANBioGRID, IntAct27107012 28514442 32296183 details
DESM_HUMANNEK6_HUMANBioGRID, IntAct32296183 details
DESM_HUMANTFP11_HUMANBioGRID, IntAct32296183 details
DESM_HUMANTCEA2_HUMANBioGRID, IntAct32296183 details
DESM_HUMANC19L2_HUMANBioGRID, IntAct32296183 details
DESM_HUMANDDX6_HUMANBioGRID, IntAct32296183 details
DESM_HUMANLONF3_HUMANBioGRID, IntAct32296183 details
DESM_HUMANK1C13_HUMANBioGRID, IntAct32296183 details
DESM_HUMANGFAP_HUMANBioGRID, IntAct28514442 32296183 32814053 34079125 details
DESM_HUMANM1AP_HUMANBioGRID, IntAct32296183 details
DESM_HUMANK2C75_HUMANBioGRID, IntAct32296183 details
DESM_HUMANCT55_HUMANBioGRID, IntAct32296183 details
DESM_HUMANPIAS2_HUMANBioGRID, IntAct32296183 details
DESM_HUMANPIHD2_HUMANBioGRID, IntAct32296183 details
DESM_HUMANRNF4_HUMANBioGRID, IntAct32296183 details
DESM_HUMANPERI_HUMANBioGRID, IntAct32296183 32814053 details
DESM_HUMANLMO4_HUMANBioGRID, IntAct32296183 details
DESM_HUMANLENG1_HUMANBioGRID, IntAct32296183 details
DESM_HUMANLBX1_HUMANBioGRID, IntAct32296183 details
DESM_HUMANGG6L9_HUMANBioGRID, IntAct32296183 details
DESM_HUMANKRT37_HUMANBioGRID, IntAct32296183 details
DESM_HUMANBAG5_HUMANBioGRID, IntAct32296183 details
DESM_HUMANK1C15_HUMANBioGRID, IntAct32296183 details
DESM_HUMANPEPL_HUMANBioGRID, IntAct32296183 details
DESM_HUMANK1C20_HUMANBioGRID, IntAct32296183 details
DESM_HUMANCA216_HUMANBioGRID, IntAct32296183 details
DESM_HUMANYES_HUMANBioGRID, IntAct32296183 details
DESM_HUMANKT33B_HUMANBioGRID, IntAct32296183 details
DESM_HUMANRPB7_HUMANBioGRID, IntAct32296183 details
DESM_HUMANZMYM5_HUMANBioGRID, IntAct32296183 details
DESM_HUMANSYNCI_HUMANBioGRID, HPRD, IntAct11694502 28514442 details
DESM_HUMANJPH3_HUMANIntAct32814053 details
DESM_HUMANHD_HUMANIntAct32814053 details
DESM_HUMANSYNEM_HUMANBioGRID, HPRD11353857 details
DESM_HUMANNEBU_HUMANBioGRID, HPRD11309420 12064939 details
DESM_HUMANDESP_HUMANBioGRID, HPRD9261168 details
DESM_HUMANS10A1_HUMANBioGRID, HPRD8641565 details
DESM_HUMANPKHA5_HUMANBioGRID20936779 details
DESM_HUMANITSN1_HUMANBioGRID22558309 details
DESM_HUMANSHBG_HUMANBioGRID, HPRD15862967 details
DESM_HUMANCRYAB_HUMANBioGRID17590381 details
DESM_HUMANAURKB_HUMANBioGRID, HPRD12686604 31586073 details
DESM_HUMANCAN1_HUMANBioGRID, HPRD12358155 details
DESM_HUMANMAPK2_HUMANBioGRID15094067 details
DESM_HUMANTRI55_HUMANBioGRID18157088 details
DESM_HUMANUBC9_HUMANBioGRID25416956 details
DESM_HUMANBRCA1_HUMANBioGRID25184681 details
DESM_HUMANDUX5_HUMANBioGRID26816005 details
DESM_HUMANTRIM7_HUMANHPRD11916970 details
DESM_HUMANPKD1_HUMANHPRD11581269 details
DESM_HUMANSAP18_HUMANIntAct17353931 details
DESM_HUMANSPTN1_HUMANBioGRID, HPRD2939097 details
DESM_HUMAN1433T_HUMANBioGRID20618440 details
DESM_HUMANPABP4_HUMANBioGRID26816005 details
DESM_HUMANDTNA_HUMANBioGRID20111909 details
DESM_HUMANS100B_HUMANHPRD10510252 details
DESM_HUMANROCK1_HUMANHPRD10574968 details