DHPS (deoxyhypusine synthase)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1725
Gene name Gene Name - the full gene name approved by the HGNC.
Deoxyhypusine synthase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DHPS
Synonyms (NCBI Gene) Gene synonyms aliases
DHS, DS, MIG13, NEDSSWI
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDSSWI
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.13
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 14622290, 16189514, 19060904, 23602568, 24722188, 25416956, 25852190, 26496610, 28514442, 31980649, 32296183
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005829 Component Cytosol TAS
GO:0006412 Process Translation TAS 7673224
GO:0008216 Process Spermidine metabolic process IDA 23525104
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600944 2869 ENSG00000095059
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)		 21850436
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)		 21850436
Show/Hide Text Mining Associations (16)
Associations from Text Mining
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