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

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

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		/	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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