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DPH1

The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotoxin A. Defects in this gene have been associated with both ovarian cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.
Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Gastric mucus-secreting cells, Basal squamous epithelial cells, Squamous epithelial cells, Plasma cells)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Low cell line specificity

Interaction

Interacts with DPH2 (By similarity). Interacts with RBM8A.

Molecular function

Transferase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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