DOHH Gene Summary [Human]
This gene encodes a metalloenzyme that catalyzes the last step in the conversion of lysine to the unique amino acid hypusine in eukaryotic initiation factor 5A. The encoded protein hydroxylates deoxyhypusine to form hypusine in the mature eukaryotic initiation factor 5A protein. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]
Details
| Type | Protein Coding |
| Official Symbol | DOHH |
| Official Name | deoxyhypusine hydroxylase [Source:HGNC Symbol;Acc:HGNC:28662] |
| Ensembl ID | ENSG00000129932 |
| Bio databases IDs | |
| Aliases | deoxyhypusine hydroxylase |
| Synonyms | 1110033C18Rik, deoxyhypusine hydroxylase, deoxyhypusine hydroxylase/monooxygenase, Dohh.1, hDOHH, HLRC1, NEDMVIC, RGD1304783 |
| 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 DOHH often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- E-Z type HEAT repeats
- PBS lyase HEAT-like repeat
- HEAT repeat
- N-terminal dyad arm
- C-terminal dyad arm
- deoxyhypusine monooxygenase
- immunoglobulin variable region-like domain
- iron ion binding
- enzyme
- protein binding
- HEAT repeats
Pathways
Biological processes and signaling networks where the DOHH gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
- chronic obstructive pulmonary disease
- nonalcoholic steatohepatitis
- head and neck squamous cell carcinoma
- head and neck squamous cell cancer
regulated by
- ZFHX3
- DL-fructose
- myoblasts
- cigarette smoke
- palmitic acid
- oleic acid
role in cell
- proliferation
- expression in
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
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DOHH gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- peptidyl-lysine modification to hypusine
Cellular Component
Where in the cell the gene product is active
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- iron ion binding
- deoxyhypusine monooxygenase activity