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desmin (DES)
Function:
- class-3 intermediate filament proteins
- in adult striated muscle desmin forms a fibrous network connecting myofibrils to each other & to the plasma membrane from the periphery of the Z-line structures
Structure:
- homopolymer
- belongs to the intermediate filament family
Compartment: cytoplasm
Expression:
- found in muscle cells
Pathology:
- defects in desmin are the cause of
a) desmin-related myofibrillar myopathy
b) dilated cardiomyopathy type 1I
c) neurogenic scapuloperoneal syndrome Kaeser type
Interactions
molecular events
Related
desmin Ab in serum/plasma
desmin Ag in tissue
General
intermediate filament protein
phosphoprotein
Properties
SIZE: entity length = 470 aa
MW = 54 kD
COMPARTMENT: cytoplasm
MOTIF: Head {2-108}
O-glycosylation site {N-TERMINAL}
rod-like {central-region}
MOTIF: alpha helix
coiled coil
phosphorylation site
Rod {109-412}
MOTIF: Coil 1A {109-141}
Linker 1 {142-151}
Coil 1B {152-252}
Linker 12 {253-268}
Coil 2A {269-287}
Linker 2 {288-295}
Coil 2B {296-412}
Tail {413-470}
Database Correlations
OMIM correlations
MORBIDMAP 125660
UniProt P17661
PFAM correlations
Entrez Gene 1674
Kegg hsa:1674
References
- UniProt :accession P17661
- Human intermediate Filament mutation Database
http://www.interfil.org
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=DES
- Wikipedia; Note: desmin entry
http://en.wikipedia.org/wiki/desmin
- Entrez Gene :accession 1674