DPH1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | DPH1 |
| Official Name | diphthamide biosynthesis 1 [Source:HGNC Symbol;Acc:HGNC:3003] |
| Ensembl ID | ENSG00000108963 |
| Bio databases IDs | |
| Aliases | diphthamide biosynthesis 1, ovarian tumor suppressor candidate 1 |
| Synonyms | 2310011M22Rik, 4930488F09Rik, DEDSSH, diphthamide biosynthesis 1, DPH2L, DPH2L1, OVCA1, RGD1562694 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DPH1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- Putative diphthamide synthesis protein
- enzyme
- protein binding
- diphthamide biosynthesis enzyme Dph1/Dph2 domain
- Non-methyl alkyl or aryl group transferase
- diphthamide biosynthesis enzyme Dph2
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- atelectasis
- hereditary disorder
- developmental delay with short stature, dysmorphic features and sparse hair
- hydrops fetalis
- respiratory failure
- growth failure
- cleft palate
- acute myeloid leukemia
- palatal shelves fail to meet at midline
role in cell
- growth
- quantity
- cell death
- proliferation
- number
- cell viability
- apoptosis
- colony formation
- cell cycle progression
- outgrowth
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cell junction
- perinuclear region
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DPH1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- fibroblast proliferation
- peptidyl-diphthamide biosynthetic process from peptidyl-histidine
Cellular Component
Where in the cell the gene product is active
- cytosol
- cell junction
- macromolecular complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- 4 iron, 4 sulfur cluster binding