DPH3 - diphthamide biosynthesis 3 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 285381

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 Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
14980502 GOA
Biological Process GO Annotation Evidence Verweise 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 Verweise 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

zf-CSL: CSL zinc finger (6 - 60)

  • 0
  • 82 a.a.
Protein Preferred Names Protein Names

diphthamide biosynthesis protein 3

  • CSL-type zinc finger-containing protein 2

DPH3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
DPH3 Q96FX2 PIH1D2 Homo sapiens Q8WWB5
Y2H Array
32296183
Intra
DPH3 Q96FX2 PIH1D2 Homo sapiens Q8WWB5
Y2H Prey Pooling
32296183
Intra
DPH3 Q96FX2 ZNF438 Homo sapiens Q7Z4V0
Y2H Prey Pooling
32296183
Intra
DPH3 Q96FX2 ZNF438 Homo sapiens Q7Z4V0
Y2H Array
32296183
Intra
DPH3 Q96FX2 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
Intra
DPH3 Q96FX2 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
Intra
DPH3 Q96FX2 SERGEF Homo sapiens Q9UGK8
Y2H Prey Pooling
32296183
Intra
DPH3 Q96FX2 SERGEF Homo sapiens Q9UGK8
Validated Y2H
32296183
Intra
DPH3 Q96FX2 SERGEF Homo sapiens Q9UGK8
Y2H Array
32296183
Intra
DPH3 Q96FX2 SERGEF Homo sapiens Q9UGK8
Anti Tag CoIP
33961781
Intra
DPH3 Q96FX2 SERGEF Homo sapiens Q9UGK8
Anti Tag CoIP
14980502
Intra
DPH3 Q96FX2 SERGEF Homo sapiens Q9UGK8
Anti Tag CoIP
28514442
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS03954 DPH3 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others DPH3 NCBI