Entrez Summary: The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008].
UniProt Summary: Type-VI intermediate filament (IF) which plays an important cytoskeletal role within the muscle cell cytoskeleton. It forms heteropolymeric IFs with desmin and/or vimentin, and via its interaction with cytoskeletal proteins alpha-dystrobrevin, dystrophin, talin-1, utrophin and vinculin, is able to link these heteropolymeric IFs to adherens-type junctions, such as to the costameres, neuromuscular junctions, and myotendinous junctions within striated muscle cells. {ECO:0000269|PubMed:11353857, ECO:0000269|PubMed:16777071, ECO:0000269|PubMed:18028034}.
Pfam DomainsGO Terms
Pfam Domains
Filament
GO Terms
fast-twitch skeletal muscle fiber contraction
neurofilament cytoskeleton
voluntary skeletal muscle contraction
twitch skeletal muscle contraction
intermediate filament binding
vinculin binding
costamere
skeletal muscle contraction
musculoskeletal movement
multicellular organismal movement
structural constituent of muscle
intermediate filament cytoskeleton organization
intermediate filament-based process
adherens junction
sarcolemma
structural constituent of cytoskeleton
striated muscle contraction
intermediate filament
muscle contraction
muscle system process
cytoskeleton organization
system process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)