DPH3 - diphthamide biosynthesis 3 Gene

Homo sapiens

Also known as DESR1; DPH3A; KTI11; ZCSL2; DELGIP; DELGIP1

Gene ID: 285381 | Gene type: protein coding

About DPH3

Cytogenetic location: 3p25.1 Genomic coordinates (GRCh38): 3:16,257,061-16,264,943 (from NCBI)

This gene has 4 transcripts (splice variants) and 204 orthologues. Ubiquitous expression in thyroid (RPKM 7.2), small intestine (RPKM 6.5) and 25 other tissues.

Summary

This gene encodes a CSL zinc finger-containing protein that is required for dipthamide biosynthesis. The encoded protein is necessary for the initial step in the modification of a histidine residue in elongation factor-2 to diphthamide. This modified residue is a target for ADP ribosylation by the Bacterial toxins diphtheria toxin and Pseudomonas exotoxin A. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq, Feb 2009]

DPH3 Products(2)

mRNA	Protein	Name
NM_001047434.3	NP_001040899.1	diphthamide biosynthesis protein 3 isoform 2
NM_206831.3	NP_996662.1	diphthamide biosynthesis protein 3 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	14980502	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of protein secretion	IDA IDA: Inferred from direct assay	14980502	GOA
involved in positive regulation of binding	IDA IDA: Inferred from direct assay	14980502	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	14980502	GOA
located in nucleus	IDA IDA: Inferred from direct assay	14980502	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

DPH3 Protein Structure

zf-CSL

0
82 a.a.

Protein Preferred Names

Protein Names

diphthamide biosynthesis protein 3

CSL-type zinc finger-containing protein 2

Related Diseases

Diseases

Alias

Diphtheria

Corynebacterium Infections	Corynebacterium Infection
Diphtherial Infection	Infection Due To Corynebacterium Diphtheriae

Melanoacanthoma

Dermatosis Papulosa Nigra

Keratosis, Seborrheic

Seborrheic Keratosis	Keratosis, Seborrheic, Somatic
Basal Cell Papilloma	Keratosis Seborrheica
KERSEB

Hyperlipoproteinemia, Type Iii

Hyperlipoproteinemia Type Iii	Broad-Betalipoproteinemia
Floating-Betalipoproteinemia	Familial Type 3 Hyperlipoproteinemia
Broad Beta Disease	Familial Hyperbeta- And Prebetalipoproteinemia
Familial Hypercholesterolemia With Hyperlipemia	Hyperlipemia With Familial Hypercholesterolemic Xanthomatosis
Coronary Artery Disease, Severe, Susceptibility To	Coronary Artery Disease, Severe
Hyperlipidemia Type 3	Familial Dysbetalipoproteinemia
Hyperlipoproteinemia Type 3	Coronary Artery Disease
Apolipoprotein E, Deficiency Or Defect Of	Dysbetalipoproteinemia Due To Defect In Apolipoprotein E-D
Carbohydrate Induced Hyperlipemia	Familial Hypercholesterolaemia With Hyperlipaemia
Remnant Hyperlipidemia	Remnant Removal Disease
Dysbetalipoproteinemia	Broad-Beta Disease
Familial Dyslipidemia Type 3	Hlp Type 3
Remnant Hyperlipoproteinemia	Familial Hyperlipoproteinemia Type Iii
CAD	Hyperlipoproteinemia 3
HLPP3	Deficiency Or Defect Of Apolipoprotein E
Dysbetalipoproteinemia Due To Defect In Apolipoprotein E	Coronary Arteriosclerosis
Coronary Heart Disease

Acanthoma

Basal Cell Nevus Syndrome

Nevoid Basal Cell Carcinoma Syndrome	Gorlin Syndrome
Nbccs	BCNS
Gorlin-Goltz Syndrome	Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
Cerebral Gigantism Jaw Cysts	Cramer Niederdellmann Syndrome
Gorlin Syndrome Or Gorlin-Goltz Syndrome	Naevoid Basal Cell Carcinoma Syndrome

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome	Mds
MDLS	Miller Dieker Syndrome
Classical Lissencephaly Syndrome	Lissencephaly Due To 17p13.3 Deletion
Monosomy 17p13.3	Telomeric Deletion 17p
Classical Lissencephaly

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

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-RS03954	DPH3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	DPH3	VGNC	VGNC:52874
Rattus norvegicus	DPH3	RGD	RGD:1590566
Bos taurus	DPH3	VGNC	VGNC:53537
Mus musculus	DPH3	MGD	MGI:1922658
Macaca mulatta	DPH3	VGNC	VGNC:84189

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