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 Regulation of CFTR activity (norm and CF). 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.