DPH5 - diphthamide biosynthesis 5 Gene

Also Known as AD-018; CGI-30; NEDSFF; NPD015; HSPC143

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51611

About DPH5

Cytogenetic location: 1p21.2 Genomic coordinates (GRCh38): 1:100,989,623-101,025,784 (from NCBI)

This gene has 16 transcripts (splice variants), 211 orthologues and is associated with 1 phenotype. Ubiquitous expression in ovary (RPKM 15.2), thyroid (RPKM 9.2) and 25 other tissues.

Summary

This gene encodes a component of the diphthamide synthesis pathway. Diphthamide is a post-translationally modified histidine residue found only on translation elongation factor 2. It is conserved from archaebacteria to humans, and is targeted by diphtheria toxin and Pseudomonas exotoxin A to halt cellular protein synthesis. The yeast and Chinese hamster homologs of this protein catalyze the trimethylation of the histidine residue on elongation factor 2, resulting in a diphthine moiety that is subsequently amidated to yield diphthamide. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

DPH5 Products (3)

mRNA Protein Name
NM_001077394.2 NP_001070862.1 diphthine methyl ester synthase isoform a
NM_001077395.2 NP_001070863.1 diphthine methyl ester synthase isoform b
NM_015958.3 NP_057042.2 diphthine methyl ester synthase isoform a

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence Referencias Source
enables diphthine methyl ester synthase activity EXP
EXP: Inferred from Experiment
3346227 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

DPH5 Protein Structure

TP_methylase

TP_methylase: Tetrapyrrole (Corrin/Porphyrin) Methylases (1 - 239)

  • 0
  • 100
  • 200
  • 285 a.a.
Protein Preferred Names Protein Names

diphthine methyl ester synthase

  • DPH5 homolog

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties

  • NEDSFF
Diphtheria

  • Corynebacterium Infections

  • Corynebacterium Infection

  • Diphtherial Infection

  • Infection Due To Corynebacterium Diphtheriae
Dihydropyrimidinase Deficiency

  • Dihydropyrimidinuria

  • Dpys Deficiency

  • Dph Deficiency

  • DPYSD

  • Dihydrouracil Amidohydrolase Deficiency

  • Dihydropyrimidinuria Due To Dpys Deficiency
Pyrimidine Metabolic Disorder

  • Disorder Of Pyrimidine Metabolism

  • Pyrimidine Metabolism Disorder
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 (2)
Referencia número Nombre del producto
Efecto
Pureza
Rare Diseases
HY-128464 LL320 Inhibitor 99.91% Unkown
HY-RS03955 DPH5 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus DPH5 RGD RGD:1307867
Felis catus DPH5 VGNC VGNC:107526
Macaca mulatta DPH5 VGNC VGNC:71893
Bos taurus DPH5 VGNC VGNC:28180
Mus musculus DPH5 MGD MGI:1916990
Canis familiaris DPH5 VGNC VGNC:40069
Others DPH5 NCBI