Affinage

ITSN1

Intersectin-1 · UniProt Q15811

Length
1721 aa
Mass
195.4 kDa
Annotated
2026-06-10
34 papers in source corpus 17 papers cited in narrative 17 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

ITSN1 is a multi-domain scaffold that organizes clathrin-mediated endocytosis and synaptic vesicle recycling, expressed as a ubiquitous short isoform (two EH domains, coiled-coil, five SH3 domains) and a brain-specific long isoform that adds GEF/DH-PH, PH, and C2 domains (PMID:9799604, PMID:10482960). Loss of ITSN1 in vivo slows endocytosis, enlarges endosomes, reduces exocytosis and synaptic vesicle number, and lowers septal NGF, establishing its role in vesicle trafficking (PMID:18676989, PMID:18298590). At the synapse it operates within a regulatory hierarchy controlling the clathrin-coated vesicle life cycle, with Eps15/EHS-1 determining ITSN1 levels and ITSN1 in turn setting synaptojanin1 content in coated vesicles (PMID:18298590, PMID:33850201). Its SH3 domains engage proline-rich partners with selectivity tuned by neuron-specific microexon insertion into the SH3A n-Src loop, which is required for dynamin 1 binding and for neuronal morphogenesis (PMID:20659428), and by isoform-specific intramolecular regulation through alternative C-termini (PMID:21712076). SH3-mediated contacts extend ITSN1 to actin-cytoskeleton regulators including WIP/N-WASP, supporting transferrin-receptor recycling and filopodia formation (PMID:29958948), and to SAM68, whose solubility and nuclear-body dynamics ITSN1 modulates (PMID:32780150). The DH-PH module functions as a GEF, activating RhoJ in a FAK-sensitive, Cdc42-independent axis to drive endothelial sprouting (PMID:31980169). ITSN1 abundance is set by ubiquitination: AIP4/ITCH differentially stabilizes or degrades distinct isoforms (PMID:29851086), and Dlgap2 protects synaptic Itsn1 from proteasomal degradation (PMID:41673270). ITSN1 also intersects disease processes, modulating TGFβ-RI (Alk5) trafficking and the Smad-versus-Erk signaling balance in endothelial cells (PMID:25720380) and exacerbating α-synuclein toxicity when reduced (PMID:40056900).

Mechanistic history

Synthesis pass · year-by-year structured walk · 12 steps
  1. 1998 High

    Established the domain architecture and isoform diversity of ITSN1, defining it as a candidate multi-domain scaffold with a brain-specific signaling-capable long form.

    Evidence cDNA cloning and alternative splicing analysis identifying short and long isoforms

    PMID:10482960 PMID:9799604

    Open questions at the time
    • Domain architecture alone did not establish in vivo function
    • Partner repertoire of individual domains unresolved at this stage
  2. 2008 High

    Demonstrated that ITSN1 is required for endocytosis and vesicle trafficking in vivo, moving it from candidate scaffold to validated trafficking regulator.

    Evidence Itsn1 knockout mice with endocytosis imaging, chromaffin cell amperometry, EM endosome sizing, and NGF ELISA; parallel C. elegans null mutants with EM, electrophysiology, co-IP, and genetic epistasis

    PMID:18298590 PMID:18676989

    Open questions at the time
    • Molecular step within the coated-vesicle cycle that ITSN1 controls not pinpointed
    • Relationship between endocytic and exocytic phenotypes unclear
  3. 2010 Medium

    Showed that a neuron-specific microexon in the SH3A domain tunes partner binding, explaining how a single scaffold gene generates neuron-specialized interaction selectivity.

    Evidence Sequence/structural modeling and site-directed mutagenesis with binding assays for dynamin 1

    PMID:20659428

    Open questions at the time
    • Single-lab binding assay
    • Functional consequence of microexon insertion in vivo not addressed here
  4. 2011 Medium

    Revealed isoform-specific binding selectivity, where an alternative C-terminus mediates an intramolecular interaction that selectively gates SH3 partner engagement.

    Evidence cDNA cloning, co-IP, and in vitro pulldown of ITSN1-22a with amphiphysin1, Cbl, and dynamin1

    PMID:21712076

    Open questions at the time
    • Physiological role of ITSN1-22a not established
    • Structural basis of the intramolecular contact not resolved
  5. 2012 Medium

    Expanded the ITSN1 interactome and showed it engages viral and signaling adaptors plus GTPase pathways, and self-associates into homo/heteromeric complexes.

    Evidence Reciprocal co-IP with kinase inhibitors for LMP2A/Syk/Shb; high-throughput Y2H screen with co-IP validation implicating Rab/Arf and DISC1 networks

    PMID:22558309 PMID:22975684

    Open questions at the time
    • Most Y2H partners lack functional validation
    • Biological significance of ITSN1 oligomerization unknown
  6. 2015 Medium

    Connected ITSN1 endocytic function to growth-factor signaling output, showing its loss reroutes Alk5 toward degradation and shifts TGFβ signaling from Smad to Erk.

    Evidence shRNA knockdown in endothelial cells and mouse model with co-IP and signaling Western blots

    PMID:25720380

    Open questions at the time
    • Direct ITSN1-Alk5 contact versus indirect trafficking effect not separated
    • Single-lab readout
  7. 2017 Low

    Linked ITSN1 to the actin cytoskeleton via CR16, indicating scaffolding beyond endocytosis into cytoskeletal organization.

    Evidence Co-IP and confocal co-localization of CR16 with ITSN1/F-actin in cell lines

    PMID:28161632

    Open questions at the time
    • Single Co-IP and imaging without functional rescue
    • No in vivo relevance demonstrated
  8. 2018 Medium

    Defined how ITSN1 couples to actin-polymerization machinery and recycling endosomes through WIP/N-WASP, and how its protein levels are controlled by isoform-selective ubiquitination.

    Evidence Co-IP, transferrin recycling assay, and morphology analysis for WIP; ubiquitination assays with proteasome inhibitor for AIP4/ITCH

    PMID:29851086 PMID:29958948

    Open questions at the time
    • Whether WIP and endocytic scaffolding functions compete is unclear
    • In vivo consequence of AIP4-mediated isoform control not tested
  9. 2020 Medium

    Distinguished a Cdc42-independent ITSN1/RhoJ GEF axis and characterized ITSN1 as a chaperone for SAM68 in nuclear RNP complexes, broadening its mechanistic repertoire beyond endocytosis.

    Evidence Membrane-anchored DH-PH gain-of-function with dominant-negative and FAK inhibitor for RhoJ; in vitro solubility assays and nuclear-body imaging with domain mutants for SAM68

    PMID:31980169 PMID:32780150

    Open questions at the time
    • RhoJ activation shown with membrane-anchored construct, not full-length endogenous ITSN1
    • Physiological role of ITSN1-SAM68 chaperoning in vivo undefined
  10. 2021 Medium

    Placed ITSN1 in an ordered regulatory hierarchy controlling the synaptic coated-vesicle life cycle: Eps15 sets ITSN1 levels, which set synaptojanin1 levels.

    Evidence Quantitative CCV proteomics from mouse brain with AP knockout comparisons

    PMID:33850201

    Open questions at the time
    • Mechanism by which ITSN1 recruits synaptojanin1 to CCVs not structurally defined
    • Single-lab biochemical fractionation
  11. 2024 Medium

    Tied ITSN1 to neurodegeneration and confirmed the microexon's organismal role, showing reduced ITSN1 worsens α-synuclein toxicity and microexon loss disrupts neuritogenesis.

    Evidence Drosophila α-synuclein haploinsufficiency model with in vitro binding; CRISPR microexon deletion in zebrafish (preprint)

    PMID:40056900

    Open questions at the time
    • Mechanism connecting endocytic scaffolding to α-synuclein clearance unresolved
    • Zebrafish microexon result is preprint, single line
  12. 2026 Medium

    Identified a postsynaptic Dlgap2-Itsn1 axis where Dlgap2 stabilizes Itsn1 against proteasomal degradation, linking ITSN1 protein homeostasis to synaptic function and autism-like behavior.

    Evidence PSD proteomics, co-IP, ubiquitination assay, and Dlgap2 knockdown mouse behavior

    PMID:41673270

    Open questions at the time
    • E3 ligase acting on Itsn1 in this context not identified
    • Single-lab study

Open questions

Synthesis pass · forward-looking unresolved questions
  • How ITSN1's distinct activities — endocytic scaffolding, GEF-driven actin/GTPase signaling, RNA-binding chaperoning, and ubiquitin-controlled abundance — are integrated and partitioned across isoforms, tissues, and disease states remains unresolved.
  • No structural model of full-length ITSN1 coordinating multiple domains simultaneously
  • Causal mechanism linking endocytic dysfunction to α-synuclein and autism phenotypes not established
  • Division of labor between short and long isoforms in vivo undefined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 3 GO:0003723 RNA binding 1 GO:0098772 molecular function regulator activity 1
Localization
GO:0005768 endosome 2 GO:0031410 cytoplasmic vesicle 2 GO:0005634 nucleus 1 GO:0005886 plasma membrane 1
Pathway
R-HSA-5653656 Vesicle-mediated transport 3 R-HSA-112316 Neuronal System 2 R-HSA-162582 Signal Transduction 2
Complex memberships
clathrin-coated vesiclepostsynaptic density

Evidence

Reading pass · 17 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1998 Human ITSN1 encodes two isoforms by brain-specific alternative splicing: a ubiquitous short form (1220 aa) containing two EH domains, a coiled-coil region, and five SH3 domains, and a brain-specific long form (1721 aa) that additionally contains GEF, PH, and C2 domains. cDNA cloning, alternative splicing analysis, domain architecture characterization Genomics High 10482960 9799604
2008 In Itsn1 null mice, neurons show slowed endocytosis and increased endosome size, chromaffin cells show reduced exocytosis events, and NGF levels are reduced in the septal brain region, establishing ITSN1 as a regulator of endocytosis and vesicle trafficking in vivo. Knockout mouse generation, live-cell imaging of endocytosis, chromaffin cell amperometry, endosome size measurement by electron microscopy, NGF ELISA Human molecular genetics High 18676989
2008 In C. elegans, ITSN-1 forms a stable complex with EHS-1 (Eps15) and co-localizes with it at endocytic hotspots ~300 nm from the presynaptic density; itsn-1 null mutants accumulate large irregular vesicles and membrane-associated vesicles at these sites with reduced synaptic vesicle number and reduced NMJ event frequency. Double mutants with dab-1 (Disabled) show synthetic lethality, placing itsn-1 and ehs-1 in the same genetic pathway that functions in parallel with the clathrin-associated sorting protein Disabled. C. elegans genetic null mutants, electron microscopy, electrophysiology (NMJ recordings), co-immunoprecipitation, genetic epistasis (double mutants) Traffic High 18298590
2010 A neuron-specific microexon (exon 20) in ITSN1 encodes five amino acids inserted at the beginning of the n-Src loop of the SH3A domain, introducing negatively charged residues toward the interaction interface; mutational analysis confirmed that translocation of these charged residues is required for interaction with dynamin 1. Comparative sequence analysis, structural modeling, site-directed mutagenesis, pulldown/binding assays, zebrafish expression analysis Biochemical and biophysical research communications Medium 20659428
2011 A novel ITSN1 isoform (ITSN1-22a) with an alternative C-terminus (encoded by exon 22a) binds amphiphysin 1 SH3 domain and ITSN1 SH3A via its CTD; an intramolecular interaction within ITSN1-22a negatively regulates its binding to Cbl but not to dynamin 1, indicating isoform-specific binding selectivity controlled by the CTD. RT-PCR/cDNA cloning, co-immunoprecipitation, in vitro pulldown, Western blot Gene Medium 21712076
2012 ITSN1 interacts with Epstein-Barr virus LMP2A via the SH3 domains of ITSN1 binding to proline-rich motifs in both N- and C-tails of LMP2A. Syk kinase promotes phosphorylation of ITSN1 in LMP2A-expressing cells. The Shb adaptor bridges ITSN1 to LMP2A by simultaneously binding phosphorylated LMP2A tyrosines and ITSN1 SH3 domains. Co-immunoprecipitation, kinase inhibitor treatment, phosphorylation assays Cellular signalling Medium 22975684
2012 Yeast two-hybrid screening identified >100 new binding partners for ITSN1 and ITSN2, implicating ITSNs in regulation of Rab and Arf GTPase pathways and the DISC1 interactome; ITSN proteins also form homomeric (ITSN1-ITSN1) and heteromeric (ITSN1-ITSN2) complexes. High-throughput yeast two-hybrid screen, co-immunoprecipitation validation PloS one Medium 22558309
2015 ITSN-1s knockdown in endothelial cells impairs clathrin-mediated and caveolae-mediated endocytosis, causing TGFβ-RI (Alk5) to be internalized via compensatory enlarged endocytic structures leading to its ubiquitylation and degradation; this shifts Alk5 signaling from Smad2/3 toward Erk1/2 activation via preferential formation of the Alk5-mSos-Grb2 complex over the Alk5-Smad-SARA complex, promoting endothelial cell proliferation. shRNA knockdown in cultured endothelial cells and in vivo mouse model, co-immunoprecipitation, Western blot for signaling intermediates, microparticle transfer assays Journal of cell science Medium 25720380
2017 CR16 (a verprolin family member) forms complexes with ITSN1 and ITSN2 in human cell lines; overexpressed CR16 promotes co-localization of ITSN1 with F-actin in MCF-7 cells, indicating CR16 modulates ITSN1 association with the actin cytoskeleton. Co-immunoprecipitation, confocal immunofluorescence co-localization Biochemical and biophysical research communications Low 28161632
2018 WIP (WASP-interacting protein) interacts with ITSN1; the WIP/ITSN1 complex co-localizes with RAB4-positive fast recycling endosomes, participates in transferrin receptor recycling, and promotes formation of filopodia-like protrusions in MCF-7 cells. WIP enhances N-WASP interaction with ITSN1 and promotes ITSN1/β-actin association. Co-immunoprecipitation, confocal co-localization, transferrin recycling assay, overexpression/knockdown morphology analysis Gene Medium 29958948
2018 The E3 ubiquitin ligase AIP4/ITCH monoubiquitinates the major isoform ITSN1-s (stabilizing it) and mono- plus oligo-ubiquitinates the minor isoform ITSN1-22a (causing its proteasomal degradation), explaining the low cellular abundance of ITSN1-22a. Ubiquitination assays, proteasome inhibitor treatment, Western blot, co-immunoprecipitation FEBS letters Medium 29851086
2020 A membrane-anchored ITSN1 DH-PH construct directly activates RhoJ GTPase and promotes endothelial cell sprouting; this is sensitive to phosphorylation by focal adhesion kinase (FAK) and independent of Cdc42 activation, defining an ITSN1/RhoJ signaling axis distinct from the known ITSN1/Cdc42 pathway. Gain-of-function overexpression, dominant-negative RhoJ trapping, FAK inhibitor treatment, co-immunoprecipitation, cell sprouting assay Biochemical and biophysical research communications Medium 31980169
2020 ITSN1 SH3 domains interact with proline-rich motifs (PRMs) of SAM68; this interaction enhances SAM68 solubility in vitro and induces dissociation of SAM68 Nuclear Bodies (SNBs) in HeLa cells via SH3A binding to the P0 PRM. An additional SH3 domain (SH3D) of ITSN1 can bind mRNAs, suggesting ITSN1 acts as a chaperone for SAM68 within nuclear ribonucleoprotein complexes. In vitro binding/solubility assays, immunofluorescence/nuclear body imaging in HeLa cells, domain-mapping pulldowns Cellular and molecular life sciences Medium 32780150
2021 ITSN1 determines synaptojanin1 levels within clathrin-coated vesicles (CCVs) at synapses; Sgip1/AP2 excess hinders synaptojanin1 binding to ITSN1, lowering its CCV levels. ITSN1 levels in turn are determined by Eps15 (not Eps15L1), placing ITSN1 in a regulatory hierarchy: Eps15→ITSN1→synaptojanin1 for CCV life cycle control. CCV purification from mouse brain, quantitative proteomics of CCV interactome, AP1/σ1B knockout mouse comparison Scientific reports Medium 33850201
2024 In a Drosophila model expressing human α-synuclein, haploinsufficiency of Dap160 (ITSN1 ortholog) exacerbates α-synuclein-induced compound eye degeneration and motor deficits; in vitro assays further indicate a physical interaction between ITSN1 and α-synuclein. Drosophila genetic haploinsufficiency model, eye degeneration scoring, motor behavior assay, in vitro binding assay Cell reports Medium 40056900
2026 Dlgap2 interacts with Itsn1 at the postsynaptic density; Dlgap2 knockdown causes specific reduction of Itsn1 via ubiquitin-mediated proteasomal degradation, resulting in synaptic deficits and autism-like behaviors in mice, defining a Dlgap2-Itsn1 regulatory axis at the synapse. Proteomics of postsynaptic density fraction, co-immunoprecipitation, ubiquitination assay, Dlgap2 knockdown mouse behavior Scientific reports Medium 41673270
2024 Deletion of the itsn1 microexon in zebrafish produces defects in neuritogenesis, demonstrating that this alternatively spliced insert contributes a specific functional role in neuronal morphogenesis in vivo. CRISPR/Cas9 microexon deletion in zebrafish, neuritogenesis phenotype analysis bioRxivpreprint Low

Source papers

Stage 0 corpus · 34 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1998 Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon. Genomics 82 9799604
2008 Mice deficient for the chromosome 21 ortholog Itsn1 exhibit vesicle-trafficking abnormalities. Human molecular genetics 78 18676989
1999 Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome. European journal of human genetics : EJHG 63 10482960
2006 Alzheimer's disease and endocytic dysfunction: clues from the Down syndrome-related proteins, DSCR1 and ITSN1. Ageing research reviews 56 16442855
2020 Lnc-ITSN1-2, Derived From RNA Sequencing, Correlates With Increased Disease Risk, Activity and Promotes CD4+ T Cell Activation, Proliferation and Th1/Th17 Cell Differentiation by Serving as a ceRNA for IL-23R via Sponging miR-125a in Inflammatory Bowel Disease. Frontiers in immunology 54 32547537
2012 Intersectin (ITSN) family of scaffolds function as molecular hubs in protein interaction networks. PloS one 44 22558309
2008 ITSN-1 controls vesicle recycling at the neuromuscular junction and functions in parallel with DAB-1. Traffic (Copenhagen, Denmark) 43 18298590
2013 Emerging roles for intersectin (ITSN) in regulating signaling and disease pathways. International journal of molecular sciences 40 23574942
2020 Atractylodis macrocephalae polysaccharides protect against DSS-induced intestinal injury through a novel lncRNA ITSN1-OT1. International journal of biological macromolecules 34 33248053
2019 Downregulation of lncRNA ITSN1-2 correlates with decreased disease risk and activity of rheumatoid arthritis (RA), and reduces RA fibroblast-like synoviocytes proliferation and inflammation via inhibiting NOD2/RIP2 signaling pathway. American journal of translational research 27 31497189
2010 Microexon-based regulation of ITSN1 and Src SH3 domains specificity relies on introduction of charged amino acids into the interaction interface. Biochemical and biophysical research communications 24 20659428
2017 Circulating lnc-ITSN1-2 expression presents a high value in diagnosis of rheumatoid arthritis and correlates with disease activity. International journal of clinical and experimental pathology 23 31966382
2018 WIP/ITSN1 complex is involved in cellular vesicle trafficking and formation of filopodia-like protrusions. Gene 15 29958948
2012 The LMP2A protein of Epstein-Barr virus regulates phosphorylation of ITSN1 and Shb adaptors by tyrosine kinases. Cellular signalling 14 22975684
2021 ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum. European journal of human genetics : EJHG 13 34707297
2015 Endocytic deficiency induced by ITSN-1s knockdown alters the Smad2/3-Erk1/2 signaling balance downstream of Alk5. Journal of cell science 13 25720380
1998 Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2. Cytogenetics and cell genetics 12 10072581
2025 Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease. Cell reports 11 40056900
2024 Loss-of-function variants in ITSN1 confer high risk of Parkinson's disease. NPJ Parkinson's disease 11 39147844
2020 Endothelial cell sprouting driven by RhoJ directly activated by a membrane-anchored Intersectin 1 (ITSN1) RhoGEF module. Biochemical and biophysical research communications 8 31980169
2022 Longitudinal variation of circulating Inc-ITSN1-2: A novel biomarker reflecting disease severity, inflammation, recurrence, and death risk in acute ischemic stroke patients. Journal of clinical laboratory analysis 7 35500161
2021 Synaptic AP2 CCV life cycle regulation by the Eps15, ITSN1, Sgip1/AP2, synaptojanin1 interactome. Scientific reports 7 33850201
2021 LncRNA ITSN1-2 knockdown inhibits OGD/R-induced inflammation and apoptosis in mouse hippocampal neurons via sponging miR-195-5p. Neuroreport 7 34554938
2020 ITSN1 regulates SAM68 solubility through SH3 domain interactions with SAM68 proline-rich motifs. Cellular and molecular life sciences : CMLS 7 32780150
2011 Identification and characterization of a novel mammalian isoform of the endocytic adaptor ITSN1. Gene 7 21712076
1997 The SH3D1A gene maps to human chromosome 21q22.1-->q22.2. Cytogenetics and cell genetics 6 9465890
2024 Environmental enrichment improves social isolation-induced memory impairment: The possible role of ITSN1-Reelin-AMPA receptor signaling pathway. PloS one 4 38241230
2017 Mammalian verprolin CR16 acts as a modulator of ITSN scaffold proteins association with actin. Biochemical and biophysical research communications 4 28161632
2024 Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder. Clinical genetics 3 38346866
2025 CircITSN1/EIF4A3/Itsn1 axis mediates postoperative cognitive dysfunction in aged mice: A novel mechanism and therapeutic target. Molecular therapy. Nucleic acids 1 40487353
2025 Juanbi Qianggu Formula inhibits fibroblast-like synovicytes activation via repressing LncRNA ITSN1-2 to promote RIP2 K48 ubiquitination. Chinese medicine 1 40629453
2018 Ubiquitin-ligase AIP4 controls differential ubiquitination and stability of isoforms of the scaffold protein ITSN1. FEBS letters 1 29851086
2026 Dlgap2 deficiency disrupts synaptic homeostasis by promoting ubiquitin-mediated Itsn1 degradation in a valproic acid-induced autism-like model. Scientific reports 0 41673270
2025 Should ITSN1 be considered as a Mendelian Parkinson's disease gene? Description of three novel families. NPJ Parkinson's disease 0 41107259

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