FEATURES

DESCRIPTION

Also known as ITSN1_HUMAN, ITSN1, ITSN, SH3D1A. 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)., Plays a role in synaptic vesicle endocytosis in brain neurons. Interacts (via DH domain) with CDC42 (PubMed:11584276, PubMed:12006984). Interacts (via SH3 domain 1) with WASL (PubMed:11584276). Interacts with dynamin, SNAP25 and SNAP23 (By similarity). Interacts with clathrin-associated proteins and other components of the endocytic machinery, such as SPIN90, EPS15, EPN1, EPN2, STON2, FCHO1, FCHO2 and DAB2 (PubMed:20448150, PubMed:22484487, PubMed:22648170). Interacts (via SH3 domains) with REPS1 and SGIP1 (PubMed:20946875). Interacts with ARHGAP31 (PubMed:11744688). Interacts with ADAM15 (PubMed:19718658). Interacts with PRRT2 (By similarity). Interacts (via SH3 domain 4) with FCHSD2 (via SH3 domain 2) (PubMed:29887380). Interacts (via SH3 domain 1) with DENND2B (PubMed:29030480). Interacts (via SH3 domains) with CBL (By similarity). Isoform 2: Interacts with CBL and DNM1 (PubMed:21712076). Isoform 2: Interacts with LMNA (PubMed:29599122). Isoform 2: Interacts with importin subunit KPNA1; this is likely to mediate its import into the nucleus (PubMed:29599122).

EXTERNAL LINKS

ITSN1

Mutations

Mutation(s) distribution

Mutations table