HIP1
Chr 7huntingtin interacting protein 1
Also known as: HIP-I, ILWEQ, SHON, SHONbeta, SHONgamma
The HIP1 protein functions in clathrin-mediated endocytosis and regulates AMPA receptor trafficking in the central nervous system. Pathogenic variants in HIP1 cause intellectual disability with seizures and characteristic dysmorphic features, inherited in an autosomal dominant pattern. The gene shows significant constraint against loss-of-function variants (LOEUF 0.33), indicating intolerance to protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
268 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 23 | 0 | 23 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 130 | 18 | 0 | 148 |
Likely Benign | 0 | 3 | 5 | 18 | 26 |
Benign | 0 | 7 | 4 | 7 | 18 |
Conflicting | — | 1 | |||
| Total | 0 | 140 | 54 | 25 | 220 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
HIP1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools