DENND5A, Official Symbol DENND5Aprovided by HGNC Official Full Name DENN domain containing 5Aprovided by HGNC Primary source HGNC:HGNC:19344 See related Ensembl:ENSG00000184014 MIM:617278; AllianceGenome:HGNC:19344 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEE49; EIEE49; RAB6IP1 Summary 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] Expression Ubiquitous expression in brain (RPKM 36.4), heart (RPKM 21.0) and 25 other tissues See more Orthologs mouse all