RABEP1

RABEP1 (Rabaptin, RAB GTPase Binding Effector Protein 1) is a Protein Coding gene. Diseases associated with RABEP1 include Tuberous Sclerosis 2. Among its related pathways are Delta508-CFTR traffic / Sorting endosome formation in CF and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and growth factor activity. An important paralog of this gene is RABEP2.

Full Name

rabaptin, RAB GTPase binding effector protein 1

Function

Rab effector protein acting as linker between gamma-adaptin, RAB4A and RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Involved in KCNH1 channels trafficking to and from the cell membrane (PubMed:22841712).
Stimulates RABGEF1 mediated nucleotide exchange on RAB5A. Mediates the traffic of PKD1:PKD2 complex from the endoplasmic reticulum through the Golgi to the cilium (By similarity).

Biological Process

Biological Process apoptotic processIEA:UniProtKB-KW
Biological Process endocytosisManual Assertion Based On ExperimentTAS:ProtInc
Biological Process Golgi to plasma membrane transportISS:UniProtKB
Biological Process membrane fusionManual Assertion Based On ExperimentTAS:ProtInc
Biological Process protein localization to ciliary membraneISS:UniProtKB
Biological Process protein transportIEA:UniProtKB-KW
Biological Process vesicle-mediated transportManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Cytoplasm
Early endosome
Recycling endosome
Cytoplasmic vesicle

PTM

Proteolytic cleavage by caspases in apoptotic cells causes loss of endosome fusion activity.