SVIL

This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Two transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq]

Full Name

supervillin

Function

Isoform 1
Forms a high-affinity link between the actin cytoskeleton and the membrane. Is among the first costameric proteins to assemble during myogenesis and it contributes to myogenic membrane structure and differentiation (PubMed:12711699).
Appears to be involved in myosin II assembly. May modulate myosin II regulation through MLCK during cell spreading, an initial step in cell migration. May play a role in invadopodial function (PubMed:19109420).
Isoform 2
May be involved in modulation of focal adhesions. Supervillin-mediated down-regulation of focal adhesions involves binding to TRIP6. Plays a role in cytokinesis through KIF14 interaction (By similarity).

Biological Process

Biological Process actin filament severingIBA:GO_Central1 Publication
Biological Process actin polymerization or depolymerizationIBA:GO_Central1 Publication
Biological Process barbed-end actin filament cappingIBA:GO_Central1 Publication
Biological Process positive regulation of cytokinesisISS:UniProtKB
Biological Process skeletal muscle tissue developmentIMP:UniProtKB1 Publication

Cellular Location

Cell membrane
Cytoplasm, cytoskeleton
Cell projection, invadopodium
Cell projection, podosome
Midbody
Cleavage furrow
Tightly associated with both actin filaments and plasma membranes.

Involvement in disease

Myopathy, myofibrillar, 10 (MFM10):
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. MFM10 is an autosomal recessive disorder characterized by muscle pain, cramping, exercise fatigue, and progressive muscle rigidity.