Aliases for DHPS Gene
External Ids for DHPS Gene
Previous GeneCards Identifiers for DHPS Gene
This gene encodes a protein that is required for the formation of hypusine, a unique amino acid formed by the posttranslational modification of only one protein, eukaryotic translation initiation factor 5A. The encoded protein catalyzes the first step in hypusine formation by transferring the butylamine moiety of spermidine to a specific lysine residue of the eukaryotic translation initiation factor 5A precursor, forming an intermediate deoxyhypusine residue. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2011]
GeneCards Summary for DHPS Gene
DHPS (Deoxyhypusine Synthase) is a Protein Coding gene. Diseases associated with DHPS include Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment and Pneumocystosis. Among its related pathways are Metabolism of proteins and Gamma carboxylation, hypusine formation and arylsulfatase activation. Gene Ontology (GO) annotations related to this gene include deoxyhypusine synthase activity. An important paralog of this gene is ENSG00000285589.
UniProtKB/Swiss-Prot Summary for DHPS Gene
Catalyzes the NAD-dependent oxidative cleavage of spermidine and the subsequent transfer of the butylamine moiety of spermidine to the epsilon-amino group of a critical lysine residue of the eIF-5A precursor protein to form the intermediate deoxyhypusine residue (PubMed:30661771). This is the first step of the post-translational modification of that lysine into an unusual amino acid residue named hypusine. Hypusination is unique to mature eIF-5A factor and is essential for its function.