RABEP1


Description

The RABEP1 (rabaptin, RAB GTPase binding effector protein 1) is a protein-coding gene located on chromosome 17.

Rab GTPase-binding effector protein 1 is an enzyme that in humans is encoded by the RABEP1 gene. It belongs to rabaptin protein family.

RABEP1 acts as a linker between gamma-adaptin, RAB4A, and RAB5A, playing a crucial role in endocytic membrane fusion and the trafficking of recycling endosomes. It is involved in the trafficking of KCNH1 channels to and from the cell membrane, and stimulates RABGEF1-mediated nucleotide exchange on RAB5A. RABEP1 mediates the movement of the PKD1:PKD2 complex from the endoplasmic reticulum to the Golgi and eventually to the cilium. (ECO:0000250|UniProtKB:O35551, ECO:0000269|PubMed:10698684, ECO:0000269|PubMed:11452015, ECO:0000269|PubMed:12773381, ECO:0000269|PubMed:22841712, ECO:0000269|PubMed:8521472)

RABEP1 is also known as RAB5EP, RABPT5.

Associated Diseases



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