DPH5 - diphthamide biosynthesis 5 Gene

Homo sapiens

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

Gene ID: 51611 | Gene type: protein coding

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

DPH5 Protein Structure

TP_methylase

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-128464	LL320		/	Unkown
HY-RS03955	DPH5 Human Pre-designed siRNA Set A		/	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

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