Desmin

DES
Identifiers
Aliases	DES, CSM1, CSM2, LGMD2R, desmin
External IDs	OMIM: 125660 MGI: 94885 HomoloGene: 56469 GeneCards: DES
Gene ontology Molecular function • protein binding • structural constituent of cytoskeleton • identical protein binding • structural molecule activity • cytoskeletal protein binding Cellular component • intercalated disc • sarcolemma • intermediate filament cytoskeleton • cytoplasm • contractile fiber • cytosol • neuromuscular junction • membrane • Z disc • plasma membrane • fascia adherens • cytoskeleton • extracellular exosome • intermediate filament • cell-cell junction Biological process • muscle contraction • intermediate filament organization • cytoskeleton organization • muscle filament sliding • regulation of heart contraction Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1674	13346
Ensembl	ENSG00000175084	ENSMUSG00000026208
UniProt	P17661	P31001
RefSeq (mRNA)	NM_001927	NM_010043
RefSeq (protein)	NP_001918	NP_034173.1 NP_034173
Location (UCSC)	Chr 2: 219.42 – 219.43 Mb	Chr 1: 75.36 – 75.37 Mb
PubMed search

1674

13346

ENSG00000175084

ENSMUSG00000026208

P17661

P31001

NM_001927

NM_010043

NP_001918

NP_034173.1
NP_034173

Desmin is a protein that in humans is encoded by the DES gene. Desmin is a muscle-specific, type IIIintermediate filament that integrates the sarcolemma, Z disk, and nuclear membrane in sarcomeres and regulates sarcomere architecture.

Desmin is a 53.5 kD protein composed of 470 amino acids. There are three major domains to the desmin protein: a conserved alpha helix rod, a variable non alpha helix head, and a carboxy-terminal tail. Desmin, as all intermediate filaments, shows no polarity when assembled. The rod domain consists of 308 amino acids with parallel alpha helical coiled coil dimers and three linkers to disrupt it. The rod domain connects to the head domain. The head domain 84 amino acids with many arginine, serine, and aromatic residues is important in filament assembly and dimer-dimer interactions. The tail domain is responsible for the integration of filaments and interaction with proteins and organelles. Desmin is only expressed in vertebrates, however homologous proteins are found in many organisms. Desmin is a subunit of intermediate filaments in cardiac muscle, skeletal muscle and smooth muscle tissue. In cardiac muscle, desmin is present in Z-discs and intercalated discs. Desmin has been shown to interact with desmoplakin and αB-crystallin.

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