Aliases for RAB3IL1 Gene
External Ids for RAB3IL1 Gene
Previous GeneCards Identifiers for RAB3IL1 Gene
This gene encodes a guanine nucleotide exchange factor for the ras-related protein Rab3A. The encoded protein binds Rab3a and the inositol hexakisphosphate kinase InsP6K1. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2012]
GeneCards Summary for RAB3IL1 Gene
RAB3IL1 (RAB3A Interacting Protein Like 1) is a Protein Coding gene. Diseases associated with RAB3IL1 include Inflammatory Bowel Disease 2 and Spinocerebellar Ataxia 20. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. Gene Ontology (GO) annotations related to this gene include Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is RAB3IP.
UniProtKB/Swiss-Prot Summary for RAB3IL1 Gene
Guanine nucleotide exchange factor (GEF) which may activate RAB3A, a GTPase that regulates synaptic vesicle exocytosis. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. May also activate RAB8A and RAB8B.