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 Tracheomalacia and Retinitis Pigmentosa 58. Among its related pathways are p75 NTR receptor-mediated signalling and Developmental Biology. 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 for ITSN1 Gene
Acts as guanine nucleotide exchange factor (GEF) specific for the CDC42 GTPase (By similarity). Adapter protein that may provide indirect link between the endocytic membrane traffic and the actin assembly machinery. May regulate the formation of clathrin-coated vesicles. 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. Isoform 1 could be involved in brain-specific synaptic vesicle recycling. Inhibits ARHGAP31 activity toward RAC1.