Aliases for ITSN1 Gene
External Ids for ITSN1 Gene
Previous HGNC Symbols for ITSN1 Gene
Previous GeneCards Identifiers for ITSN1 Gene
The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008]
GeneCards Summary for ITSN1 Gene
ITSN1 (Intersectin 1) is a Protein Coding gene. Diseases associated with ITSN1 include Vaccinia and Schizophrenia 1. Among its related pathways are p75 NTR receptor-mediated signalling and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include calcium ion binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ITSN2.
UniProtKB/Swiss-Prot Summary for ITSN1 Gene
Adapter protein that provides a link between the endocytic membrane traffic and the actin assembly machinery (PubMed:11584276, PubMed:29887380). Acts as guanine nucleotide exchange factor (GEF) for CDC42, and thereby stimulates actin nucleation mediated by WASL and the ARP2/3 complex (PubMed:11584276). Plays a role in the assembly and maturation of clathrin-coated vesicles (By similarity). Recruits FCHSD2 to clathrin-coated pits (PubMed:29887380). Involved in endocytosis of activated EGFR, and probably also other growth factor receptors (By similarity). Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR may involve association with DAB2 (PubMed:22648170). Promotes ubiquitination and subsequent degradation of EGFR, and thereby contributes to the down-regulation of EGFR-dependent signaling pathways. In chromaffin cells, required for normal exocytosis of catecholamines. Required for rapid replenishment of release-ready synaptic vesicles at presynaptic active zones (By similarity). Inhibits ARHGAP31 activity toward RAC1 (PubMed:11744688).
[Isoform 1]: Plays a role in synaptic vesicle endocytosis in brain neurons.