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DENND5A - DENN domain containing 5A Gene

Also Known as DEE49; EIEE49; RAB6IP1

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 23258

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	参考文献	由来
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	参考文献	由来
involved in retrograde transport, endosome to Golgi	IMP IMP: Inferred from mutant phenotype	19619496	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
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	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
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

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS03690	DENND5A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	DENND5A	NCBI