DHPS (deoxyhypusine synthase)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1725
Gene name Deoxyhypusine synthase
Gene symbol DHPS
Synonyms (NCBI Gene)
DHSDSMIG13NEDSSWI
Chromosome 19
Chromosome location 19p13.13
Summary 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
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs758100382 T>C Uncertain-significance, pathogenic 5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs1306390986 T>C Pathogenic, uncertain-significance 5 prime UTR variant, initiator codon variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT045190 hsa-miR-186-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 14622290, 16189514, 19060904, 23602568, 24722188, 25416956, 25852190, 26496610, 28514442, 31980649, 32296183, 32707033, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
GO:0006412 Process Translation TAS 7673224
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600944 2869 ENSG00000095059
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49366
Protein name Deoxyhypusine synthase (DHS) (EC 2.5.1.46)
Protein function 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 deox
PDB 1DHS , 1RLZ , 1ROZ , 1RQD , 6P4V , 6PGR , 6WKZ , 6WL6 , 6XXH , 6XXI , 6XXJ , 6XXK , 6XXL , 6XXM , 7A6S , 7A6T , 8A0E , 8A0F , 8A0G , 8PVU , 8R3U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01916 DS 44 → 354 Deoxyhypusine synthase Domain
Sequence
Sequence length 369
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Hypusine synthesis from eIF5A-lysine
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DHPS-related disorder Likely pathogenic; Pathogenic rs1568317152, rs758100382 RCV003420196
RCV003403569
Neurodevelopmental disorder with seizures and speech and walking impairment Likely pathogenic; Pathogenic rs1568317152, rs758100382 RCV000786002
RCV000786000
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs142633494 RCV005901568
Colon adenocarcinoma Conflicting classifications of pathogenicity rs142633494 RCV005901567
Familial cancer of breast Conflicting classifications of pathogenicity rs142633494 RCV005901566
Sarcoma Conflicting classifications of pathogenicity rs142633494 RCV005901569
Show/Hide Text Mining Associations (16)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 31558321
Developmental Disabilities Associate 30661771, 36973244
Embryo Loss Associate 30661771
Glioblastoma Associate 22927971
Growth Disorders Associate 30661771
HIV Infections Associate 20573194, 21252456, 23166805, 25122865
Infections Associate 23470037
Inflammation Associate 25564249
Melanoma Associate 34947982
Neoplasms Associate 22491477, 27097942, 32235505