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Target intelligence / Profile preview
USP6 N-terminal-like protein (USP6NL)
- Target
- USP6NL
- Molecular classification
- Enzyme (GTPase-activating protein), Other (Trafficking regulator)
01
Overview
USP6 N-terminal-like protein (USP6NL) is a GTPase-activating protein involved in regulating membrane trafficking, particularly retrograde transport from endosomes to the Golgi apparatus. It inactivates the small GTPases RAB5A and RAB43 and plays a role in the regulation of cilium assembly, Golgi structure, and receptor trafficking, notably inhibiting EGFR internalization when complexed with EPS8. USP6NL is implicated in diseases ranging from neurodegeneration and metabolic myopathies to certain cancers, but is not currently a direct therapeutic drug target[2][3][4][5].
- Other names
- RNTRETRE2NLUSP6NL-IT1KIAA0019RN-treRelated to the N-terminus of tre
02
Biological functions
Retrograde transport (endocytic pathway to Golgi)Regulation of cilium assemblyRegulation of Golgi organizationReceptor traffickingGTPase regulation (activator for RAB5A and RAB43)Inhibits EGFR internalization (in complex with EPS8)Transport of Shiga toxin to trans-Golgi network
03
Disease associations
Alzheimer diseaseIsolated asymptomatic elevation of creatine phosphokinasePlasma fibronectin deficiencyFollicular lymphomaPentosuriaMyopathy due to calsequestrin and SERCA1 protein overloadMetabolic myopathy due to lactate transporter defect
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