DENND5A - DENN domain containing 5A Gene

Homo sapiens

Also known as DEE49; EIEE49; RAB6IP1

Gene ID: 23258 | Gene type: protein coding

About DENND5A

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:9,138,825-9,265,350 (from NCBI)

This gene has 40 transcripts (splice variants), 207 orthologues, 10 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 36.4), heart (RPKM 21.0) and 25 other tissues.

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]

DENND5A Products(4)

mRNA	Protein	Name
NM_001243254.2	NP_001230183.1	DENN domain-containing protein 5A isoform 2
NM_001348749.2	NP_001335678.1	DENN domain-containing protein 5A isoform 3
NM_001348750.2	NP_001335679.1	DENN domain-containing protein 5A isoform 4
NM_015213.4	NP_056028.2	DENN domain-containing protein 5A isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	20937701	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in retrograde transport, endosome to Golgi	IMP IMP: Inferred from mutant phenotype	19619496	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of retromer complex	IDA IDA: Inferred from direct assay	19619496	GOA
located in trans-Golgi network	IDA IDA: Inferred from direct assay	19619496	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DENND5A Protein Structure

uDENN

DENN

dDENN

RUN

PLAT

RUN

0
200
400
600
800
1000
1200
1287 a.a.

Protein Preferred Names

Protein Names

DENN domain-containing protein 5A

DENN/MADD domain containing 5A

DENND5A Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	DENND5A	Q6IQ26	GOLGA6L9	Homo sapiens	A6NEM1	Y2H Prey Pooling	32296183
Intra	DENND5A	Q6IQ26	GOLGA6L9	Homo sapiens	A6NEM1	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Developmental And Epileptic Encephalopathy 49

DEE49	Epileptic Encephalopathy, Early Infantile, 49
Eiee49	Developmental And Epileptic Encephalopathy, 49
Early Infantile Epileptic Encephalopathy 49

Encephalopathy

Brain Diseases	Encephalopathies
Toxic Encephalopathy	Toxic Brain Fever
Toxic Brain Inflammation	Toxic Brain Stem Inflammation
Toxic Cerebral Fever	Toxic Cerebrospinal Fever
Toxic Cerebrospinal Inflammation	Encephalopathy Nec
Encephalopathy Nos	Encephalopathy Disease
Encephalopathy Syndrome

Epilepsy, Idiopathic Generalized 14

EIG14	Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Idiopathic Generalized Epilepsy 14	{Epilepsy, Idiopathic Generalized, Susceptibility To, 14}

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Lissencephaly 8

LIS8

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Spinocerebellar Ataxia, Autosomal Recessive 24

SCAR24	Autosomal Recessive Spinocerebellar Ataxia 24
Spinocerebellar Ataxia, Autosomal Recessive, 24	Ataxia, Spinocerebellar, Autosomal Recessive, Type 24

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03690	DENND5A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DENND5A	RGD	RGD:1306759
Macaca mulatta	DENND5A	VGNC	VGNC:71674
Mus musculus	DENND5A	MGD	MGI:1201681
Bos taurus	DENND5A	VGNC	VGNC:54864
Canis familiaris	DENND5A	VGNC	VGNC:39893
Felis catus	DENND5A	VGNC	VGNC:61439

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