Target intelligence / Profile preview

Ras-related protein Rab-5C (RAB5C)

Target
RAB5C
Molecular classification
Small GTPase, Ras superfamily, Rab family, Enzyme (GTPase activity)
01

Overview

Ras-related protein Rab-5C (RAB5C) is a small GTPase of the Rab family within the Ras superfamily, acting as a key regulator of intracellular membrane trafficking, particularly endocytosis and vesicle fusion[1][7]. RAB5C cycles between inactive (GDP-bound) and active (GTP-bound) forms, coordinating the docking and/or fusion of vesicles to their correct membrane compartments[1][2][7]. It plays a master role in the endocytic pathway, including the uptake of extracellular materials, recycling or degradation of membrane proteins and signal transduction, notably through growth factor receptors such as EGF and VEGF[2]. RAB5C is expressed broadly in human tissues including the nervous system, vasculature, and various organ systems[8]. Pathogenic variants in RAB5C are associated with neurodevelopmental disorders, most notably macrocephaly, developmental delay, and epilepsy, and have also been implicated in cancer cell proliferation and response to viral infection[1][2][6][9].

Other names
RABLRAB5CLRAB5LL1880RAB5Cmember RAS oncogene familyras-related protein Rab-5C
02

Mechanism of action

No known approved drugs with direct mechanism of action; implicated in disease modulation through regulation of endocytosis, trafficking, and signal transduction

03

Biological functions

Regulation of intracellular membrane traffickingEndocytosis and endocytic pathwayVesicle docking and fusionSignal transductionMembrane protein recyclingCell motility and adhesion
04

Disease associations

Neurodevelopmental disorders (e.g., macrocephaly, developmental delay, epilepsy)Cancer (notably in the context of cell proliferation, e.g., breast cancer)Infection (e.g., respiratory syncytial virus and adenovirus replication in respiratory epithelial cells)
05

Safety considerations

None specific to current therapeutic attempts; importance in fundamental vesicle trafficking may pose risks if broadly inhibited (inferred from known biology)
06

Biomarkers

Variants as genetic biomarkers for neurodevelopmental disorders (macrocephaly, developmental delay, epilepsy)

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