Aliases for RABGEF1 Gene
External Ids for RABGEF1 Gene
Previous GeneCards Identifiers for RABGEF1 Gene
RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM, Mar 2010]
GeneCards Summary for RABGEF1 Gene
RABGEF1 (RAB Guanine Nucleotide Exchange Factor 1) is a Protein Coding gene. Diseases associated with RABGEF1 include Smith-Mccort Dysplasia 1 and Dyggve-Melchior-Clausen Disease. Among its related pathways are Delta508-CFTR traffic / ER-to-Golgi in CF and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity and Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is RIN2.
UniProtKB/Swiss-Prot Summary for RABGEF1 Gene
Rab effector protein acting as linker between gamma-adaptin, RAB4A or RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Stimulates nucleotide exchange on RAB5A. Can act as a ubiquitin ligase (By similarity).