Sequence Detail

ID/Version

P31001 (UniProt | EBI)

Last sequence update: 2007-01-23
Last annotation update: 2025-02-05

Sequence description from provider

RecName: Full=Desmin;

Provider

SWISS-PROT

Sequence

Polypeptide 469 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Des	desmin	66	205	4	22

Sequence references in MGI

J:3738 Li H, et al., Regulation of the mouse desmin gene: transactivated by MyoD, myogenin, MRF4 and Myf5. Nucleic Acids Res. 1993 Jan 25;21(2):335-43
J:17021 Li H, et al., Inhibition of desmin expression blocks myoblast fusion and interferes with the myogenic regulators MyoD and myogenin. J Cell Biol. 1994 Mar;124(5):827-41
J:55704 Dalpe G, et al., Dystonin-deficient mice exhibit an intrinsic muscle weakness and an instability of skeletal muscle cytoarchitecture. Dev Biol. 1999 Jun 15;210(2):367-80
J:113898 Hofmann I, et al., Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis. J Cell Sci. 2000 Jul;113(Pt 13):2471-83
J:219616 Clemen CS, et al., The toxic effect of R350P mutant desmin in striated muscle of man and mouse. Acta Neuropathol. 2015 Feb;129(2):297-315
J:229453 Fuchs C, et al., Desmin enters the nucleus of cardiac stem cells and modulates Nkx2.5 expression by participating in transcription factor complexes that interact with the nkx2.5 gene. Biol Open. 2016;5(2):140-53
J:239026 Makihara H, et al., Desmin phosphorylation by Cdk1 is required for efficient separation of desmin intermediate filaments in mitosis and detected in murine embryonic/newborn muscle and human rhabdomyosarcoma tissues. Biochem Biophys Res Commun. 2016 Sep 23;478(3):1323-9
J:251576 Thottakara T, et al., The E3 ubiquitin ligase Asb2beta is downregulated in a mouse model of hypertrophic cardiomyopathy and targets desmin for proteasomal degradation. J Mol Cell Cardiol. 2015 Oct;87:214-24
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89
J:306378 Guo A, et al., Immunoaffinity enrichment and mass spectrometry analysis of protein methylation. Mol Cell Proteomics. 2014 Jan;13(1):372-87
J:322687 Bouameur JE, et al., Interaction of plectin with keratins 5 and 14: dependence on several plectin domains and keratin quaternary structure. J Invest Dermatol. 2014 Nov;134(11):2776-2783
J:337416 Perez-Hernandez M, et al., Loss of Nuclear Envelope Integrity and Increased Oxidant Production Cause DNA Damage in Adult Hearts Deficient in PKP2: A Molecular Substrate of ARVC. Circulation. 2022 Sep 13;146(11):851-867
J:347151 Kuwabara Y, et al., A human FLII gene variant alters sarcomeric actin thin filament length and predisposes to cardiomyopathy. Proc Natl Acad Sci U S A. 2023 May 9;120(19):e2213696120