DPH7 - diphthamide biosynthesis 7 Gene

Also Known as RRT2; WDR85; C9orf112

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 92715

About DPH7

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:137,554,444-137,578,925 (from NCBI)

This gene has 14 transcripts (splice variants) and 168 orthologues. Ubiquitous expression in testis (RPKM 4.1), spleen (RPKM 3.9) and 25 other tissues.

Summary

Diphthamide is a post-translationally modified histidine residue present in elongation factor 2, and is the target of diphtheria toxin. This gene encodes a protein that contains a WD-40 domain, and is thought to be involved in diphthamide biosynthesis. A similar protein in yeast functions as a methylesterase, converting methylated diphthine to diphthine, which can then undergo amidation to produce diphthamide. [provided by RefSeq, Oct 2016]

DPH7 Products (28)

mRNA Protein Name
NM_001346370.2 NP_001333299.1 diphthine methyltransferase isoform b
NM_001346371.2 NP_001333300.1 diphthine methyltransferase isoform c
NM_001346372.2 NP_001333301.1 diphthine methyltransferase isoform d
NM_001346373.2 NP_001333302.1 diphthine methyltransferase isoform e
NM_001346374.2 NP_001333303.1 diphthine methyltransferase isoform f
NM_001346375.2 NP_001333304.1 diphthine methyltransferase isoform g
NM_001346376.2 NP_001333305.1 diphthine methyltransferase isoform g
NM_001346377.2 NP_001333306.1 diphthine methyltransferase isoform g
NM_001346378.2 NP_001333307.1 diphthine methyltransferase isoform g
NM_001346379.2 NP_001333308.1 diphthine methyltransferase isoform g
NM_001346380.2 NP_001333309.1 diphthine methyltransferase isoform g
NM_001346381.2 NP_001333310.1 diphthine methyltransferase isoform g
NM_001346382.2 NP_001333311.1 diphthine methyltransferase isoform g
NM_001346383.2 NP_001333312.1 diphthine methyltransferase isoform g
NM_001346384.2 NP_001333313.1 diphthine methyltransferase isoform g
NM_001346385.2 NP_001333314.1 diphthine methyltransferase isoform g
NM_001346386.2 NP_001333315.1 diphthine methyltransferase isoform g
NM_001346387.2 NP_001333316.1 diphthine methyltransferase isoform g
NM_001346388.2 NP_001333317.1 diphthine methyltransferase isoform g
NM_001346389.2 NP_001333318.1 diphthine methyltransferase isoform g
NM_001346390.2 NP_001333319.1 diphthine methyltransferase isoform g
NM_001346391.2 NP_001333320.1 diphthine methyltransferase isoform g
NM_001346392.2 NP_001333321.1 diphthine methyltransferase isoform g
NM_001346393.2 NP_001333322.1 diphthine methyltransferase isoform h
NM_001346394.2 NP_001333323.1 diphthine methyltransferase isoform h
NM_001346395.2 NP_001333324.1 diphthine methyltransferase isoform h
NM_001346396.2 NP_001333325.1 diphthine methyltransferase isoform h
NM_138778.5 NP_620133.1 diphthine methyltransferase isoform a

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Références Source
enables protein binding IPI
IPI: Inferred from physical interaction
21750715 GOA
Biological Process GO Annotation Evidence Références Source
involved in protein histidyl modification to diphthamide IMP
IMP: Inferred from mutant phenotype
19965467 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

DPH7 Protein Structure

WD40

WD40: WD domain, G-beta repeat (230 - 268)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 452 a.a.
Protein Preferred Names Protein Names

diphthine methyltransferase

  • WD repeat-containing protein 85

Related Diseases

Diseases Alias
Diphtheria

  • Corynebacterium Infections

  • Corynebacterium Infection

  • Diphtherial Infection

  • Infection Due To Corynebacterium Diphtheriae
Gaucher Disease, Type Iiic

  • Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome

  • Gaucher-Like Disease

  • GD3C

  • Gaucher'S Disease Type Iiic

  • Cardiovascular Gaucher Disease

  • Gaucher Disease Type 3c

  • Gaucher Disease 3c

  • Pseudo-Gaucher Disease
Gaucher Disease, Type Iii

  • Gaucher Disease, Subacute Neuronopathic Type

  • Gd Iii

  • Gaucher Disease, Chronic Neuronopathic Type

  • Gaucher Disease, Juvenile And Adult, Cerebral

  • Gaucher Disease Type 3

  • GD3

  • Gaucher'S Disease Type Iii

  • Gaucher Disease Type Iii

  • Gd 3

  • Cerebral Juvenile And Adult Form Of Gaucher Disease

  • Chronic Neuronopathic Gaucher Disease

  • Gaucher Disease 3

  • Cerebral, Juvenile And Adult, Gaucher Disease

  • Gaucher Disease Chronic Neuronopathic Type

  • Gaucher Disease Type Ii

  • Subacute Neuronopathic Gaucher Disease

  • Type 3 Gaucher Disease

  • Gaucher Disease, Type 3

  • Gaucher Disease, Type 2
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)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS03957 DPH7 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris DPH7 VGNC VGNC:53234
Rattus norvegicus DPH7 RGD RGD:1304868
Mus musculus DPH7 MGD MGI:1914478
Macaca mulatta DPH7 VGNC VGNC:71904
Bos taurus DPH7 VGNC VGNC:28182
Felis catus DPH7 VGNC VGNC:61599
Others DPH7 NCBI