| Gene Symbol | ent-gene-96ed1757 |
| Chromosome | 3q28 |
| Subcellular Localization | , reducing its endosomal enrichment |
| J domain | Positions 1-70 — recruits Hsc70 (HSPA8) via HPD motif |
| N-terminal domain | Positions 71-450 — protein-protein interactions |
| SDF domain | Positions 1400-1550 — sorting nexin interaction |
| C-terminal region | Positions 1551-2328 — retromer and WASH complex interactions |
| Reduced Hsc70 recruitment | The N855S substitution in the J domain impairs the interaction with Hsc70, reducing the availability of chaperone activity on endosomal membranes |
| Disrupted membrane association | Some mutations alter the protein's subcellular localization, reducing its endosomal enrichment |
| Impaired protein-protein interactions | Mutations in the NPH and C-terminal domains disrupt interactions with retromer, WASH, and sorting nexins |
| KG Connections | 2 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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