ITSN1

Chr 21

intersectin 1

Also known as: ITSN, SH3D1A, SH3P17

NCBI Gene: 6453ENSG00000205726UniProt: Q15811OMIM: 602442

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]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
1
Active trials
19
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.22
LOEUF· LoF intol.
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.22LOEUF
pLI 1.000
Z-score 8.30
OE 0.15 (0.10–0.22)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
3.61Z-score
OE missense 0.67 (0.63–0.72)
644 obs / 958.9 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.15 (0.10–0.22)
0≤0.351.4
Missense OE?0.67 (0.63–0.72)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 16 / 109.9Missense obs/exp: 644 / 958.9Syn Z: 0.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ITSN1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients