DENND5A

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]

Description

DENN domain containing 5A

Tissue specificity

Low tissue specificity

Subcell location

Golgi apparatus, Vesicles

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

11 (9138825 - 9265959)

Ensembl ID

ENSG00000184014  (ver. 103.38)

Orthologs

Mouse Dennd5a: ENSMUSG00000035901

UniProt

Q6IQ26

neXtProt

NX_Q6IQ26

Human splice variants
Mouse splice variants

Protein structure