Aliases for DENND5A Gene
External Ids for DENND5A Gene
Previous HGNC Symbols for DENND5A Gene
Previous GeneCards Identifiers for DENND5A Gene
This gene encodes a DENN-domain-containing protein that functions as a RAB-activating guanine nucleotide exchange factor (GEF). This protein catalyzes the conversion of GDP to GTP and thereby converts inactive GDP-bound Rab proteins into their active GTP-bound form. The encoded protein is recruited by RAB6 onto Golgi membranes and is therefore referred to as RAB6-interacting protein 1. This protein binds with RAB39 as well. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene are associated with early infantile epileptic encephalopathy-49. [provided by RefSeq, Feb 2017]
GeneCards Summary for DENND5A Gene
DENND5A (DENN Domain Containing 5A) is a Protein Coding gene. Diseases associated with DENND5A include Developmental And Epileptic Encephalopathy 49 and Encephalopathy. 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 GTPase binding and Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is DENND5B.
UniProtKB/Swiss-Prot Summary for DENND5A Gene
Guanine nucleotide exchange factor (GEF) which may activate RAB6A and RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. Involved in the negative regulation of neurite outgrowth (By similarity).