ITSN1

Chr 21q22.11

intersectin 1

Aliases:: SH3P17, MGC134948, MGC134949
MANE:: ENST00000381318.8

OMIM: 602442 ↗NCBI: 6453 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ITSN1 · Q15811

v62025-08-01

Predicted Aligned Error matrix for ITSN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

72.3/ 100

Confident

1,721 residues

Confidence breakdown

Very high(≥ 90)34%
Confident(70–90)33%
Low(50–70)9%
Very low(< 50)24%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hereditary disease
0.53
neurodevelopmental disorder
0.45
Autistic behavior
0.40
Intellectual disability
0.38
autosomal dominant non-syndromic intellectual disability
0.37
neurodegenerative disease
0.35
2q23.1 microdeletion syndrome
0.34
Generalized-onset seizure
0.27
esophageal atresia/tracheoesophageal fistula
0.26
Tracheoesophageal fistula
0.26

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Intersectin-1

Adapter protein that provides a link between the endocytic membrane traffic and the actin assembly machinery (PubMed:11584276, PubMed:29887380). Acts as a 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)