intersectin-1 (SH3 domain-containing protein 1A, SH3P17, ITSN1, ITSN, SH3D1A)

Function

• adapter protein
• indirect link between endocytic membrane traffic & actin assembly (putative)
• regulates formation of clathrin-coated vesicles
• isoform 1 may be involved in brain-specific synaptic vesicle recycling
• interacts with dynamin, CDC42, SNAP25, SNAP23, clathrin-associated proteins SPIN90, EPS15, EPN1, EPN2 & STN2

Compartment

cytoplasm, membrane, enriched in synaptosomes

Alternative splicing

named isoforms=4

Expression

• ubiquitous in adult & fetal tissues, except isoform 1
• expressed in skeletal muscle, heart, spleen, ovary, testis > thymus, blood, lung, liver, pancreas
• isoform 1 expressed almost exclusively in brain, expressed in all brain regions
• not expressed in spinal cord

Pathology

• overexpressed in brain from Down syndrome fetuses

More general terms

• phosphoprotein
• cytoskeletal protein
• Ca+2 binding protein

Additional terms

• Down's syndrome

Database

• OMIM: https://mirror.omim.org/entry/602442
• UniProt: http://www.uniprot.org/uniprot/Q15811.html