DPH3 diphthamide biosynthesis 3
Gene ID: 285381, updated on 2-Nov-2024Gene type: protein coding
Also known as: DESR1; DPH3A; KTI11; ZCSL2; DELGIP; DELGIP1
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- Go to complete Gene record for DPH3
- Go to Variation Viewer for DPH3 variants
Summary
This gene encodes a CSL zinc finger-containing protein that is required for dipthamide biosynthesis. The encoded protein is necessary for the initial step in the modification of a histidine residue in elongation factor-2 to diphthamide. This modified residue is a target for ADP ribosylation by the bacterial toxins diphtheria toxin and Pseudomonas exotoxin A. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq, Feb 2009]
Genomic context
- Location:
- 3p25.1
- Sequence:
- Chromosome: 3; NC_000003.12 (16257061..16264943, complement)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DPH3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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