Aliases for NCKAP1L Gene
External Ids for NCKAP1L Gene
Previous HGNC Symbols for NCKAP1L Gene
Previous GeneCards Identifiers for NCKAP1L Gene
This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010]
GeneCards Summary for NCKAP1L Gene
NCKAP1L (NCK Associated Protein 1 Like) is a Protein Coding gene. Diseases associated with NCKAP1L include Immunodeficiency 72 With Autoinflammation and Bronchus Cancer. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is NCKAP1.
UniProtKB/Swiss-Prot Summary for NCKAP1L Gene
Essential hematopoietic-specific regulator of the actin cytoskeleton (Probable). Controls lymphocyte development, activation, proliferation and homeostasis, erythrocyte membrane stability, as well as phagocytosis and migration by neutrophils and macrophages (PubMed:16417406, PubMed:17696648). Component of the WAVE2 complex which signals downstream of RAC to stimulate F-actin polymerization. Required for stabilization and/or translation of the WAVE2 complex proteins in hematopoietic cells (By similarity). Exhibits complex cycles of activation and inhibition to generate waves of propagating the assembly with actin (PubMed:16417406). Also involved in mechanisms WAVE-independent to regulate myosin and actin polymerization during neutrophil chemotaxis (PubMed:17696648).