Aliases for SVIL Gene
External Ids for SVIL Gene
Previous GeneCards Identifiers for SVIL Gene
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. Several transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Apr 2016]
GeneCards Summary for SVIL Gene
SVIL (Supervillin) is a Protein Coding gene. Diseases associated with SVIL include Myofibrillar Myopathy 10 and Myofibrillar Myopathy. Among its related pathways are Coregulation of Androgen receptor activity. Gene Ontology (GO) annotations related to this gene include actin binding and actin filament binding. An important paralog of this gene is FLII.
UniProtKB/Swiss-Prot Summary for SVIL Gene
[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).