Aliases for RABEP1 Gene
External Ids for RABEP1 Gene
Previous GeneCards Identifiers for RABEP1 Gene
GeneCards Summary for RABEP1 Gene
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.
UniProtKB/Swiss-Prot for RABEP1 Gene
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.