DPH1
Gene Information
- Official Symbol: DPH1
- Official Name: diphthamide biosynthesis 1
- Aliases and Previous Symbols: N/A
- Entrez ID: 1801
- UniProt: Q9BZG8
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: 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. [provided by RefSeq, Oct 2016].
- UniProt Summary: Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2). When overexpressed, suppresses colony formation ability and growth rate of ovarian cancer cells. Acts also as a tumor suppressor in lung and breast cancers (By similarity). Plays a role in embryonic growth, organogenesis and postnatal survival (By similarity). {ECO:0000250|UniProtKB:Q5NCQ5, ECO:0000269|PubMed:10519411}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 8245
- Expression level (log2 read counts): 5.43
DPH1 Expression in NALM6 Cells: 5.43
