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 transla... See more...

Aliases for DHPS Gene

Aliases for DHPS Gene

  • Deoxyhypusine Synthase 2 3 4 5
  • Migration-Inducing Gene 13 2 3
  • EC 2.5.1.46 4 51
  • MIG13 2 3
  • DHS 3 4
  • DS 3 4
  • EC 2.5.1 51
  • NEDSSWI 3
  • DHPS 5

External Ids for DHPS Gene

Previous GeneCards Identifiers for DHPS Gene

  • GC19M012917
  • GC19M013009
  • GC19M012631
  • GC19M012647
  • GC19M012786
  • GC19M012359
  • GC19M012676

Summaries for DHPS Gene

Entrez Gene Summary 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 Gamma carboxylation, hypusine formation and arylsulfatase activation and Metabolism of proteins. 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.

Gene Wiki entry for DHPS Gene

Additional gene information for DHPS Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DHPS Gene

Genomics for DHPS Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DHPS Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DHPS on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DHPS

Top Transcription factor binding sites by QIAGEN in the DHPS gene promoter:
  • C/EBPbeta
  • CUTL1
  • Evi-1
  • GATA-1
  • HOXA5
  • NF-1
  • NF-1/L
  • Nkx5-1
  • p53
  • Pax-3

Genomic Locations for DHPS Gene

Genomic Locations for DHPS Gene
chr19:12,672,470-12,681,887
(GRCh38/hg38)
Size:
9,418 bases
Orientation:
Minus strand
chr19:12,786,531-12,792,716
(GRCh37/hg19)
Size:
6,186 bases
Orientation:
Minus strand

Genomic View for DHPS Gene

Genes around DHPS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DHPS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DHPS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DHPS Gene

Proteins for DHPS Gene

  • Protein details for DHPS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49366-DHYS_HUMAN
    Recommended name:
    Deoxyhypusine synthase
    Protein Accession:
    P49366
    Secondary Accessions:
    • A8K688
    • M0R1I5
    • Q13184
    • Q13276
    • Q9UDG0

    Protein attributes for DHPS Gene

    Size:
    369 amino acids
    Molecular mass:
    40971 Da
    Cofactor:
    Name=NAD(+); Xref=ChEBI:CHEBI:57540;
    Quaternary structure:
    • Homotetramer formed by a dimer of dimers.
    SequenceCaution:
    • Sequence=AL520040; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform Short]: Inactive.

    Three dimensional structures from OCA and Proteopedia for DHPS Gene

    Alternative splice isoforms for DHPS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DHPS Gene

Selected DME Specific Peptides for DHPS Gene

P49366:
  • KHHIANA
  • QEFDGSD
  • TAGGVEED
  • EAVSWGK
  • MPILDQM
  • LTDGSLGDM
  • RYLVQHNMV
  • TSNLISSG
  • GARPDEA
  • LVAETFA
  • GINRIGN
  • FEDWLMPILD
  • NRIGNLLVPN
  • EEDLIKCL
  • IRYLVQH
  • RNGADYA
  • RLGKEIN
  • IKCLAPT
  • FLGYTSN
  • GMIILGGG
  • LMRNGADYAVYINT

Post-translational modifications for DHPS Gene

  • Ubiquitination at Lys19, Lys73, Lys212, Lys329, and Lys366
  • Modification sites at PhosphoSitePlus

Domains & Families for DHPS Gene

Gene Families for DHPS Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DHPS Gene

InterPro:
Blocks:
  • Deoxyhypusine synthase
ProtoNet:

Suggested Antigen Peptide Sequences for DHPS Gene

GenScript: Design optimal peptide antigens:
  • Deoxyhypusine synthase (DHYS_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P49366

UniProtKB/Swiss-Prot:

DHYS_HUMAN :
  • Belongs to the deoxyhypusine synthase family.
Family:
  • Belongs to the deoxyhypusine synthase family.
genes like me logo Genes that share domains with DHPS: view

Function for DHPS Gene

Molecular function for DHPS Gene

UniProtKB/Swiss-Prot 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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[eIF5A protein]-L-lysine + spermidine = [eIF5A protein]-deoxyhypusine + propane-1,3-diamine; Xref=Rhea:RHEA:33299, Rhea:RHEA-COMP:10143, Rhea:RHEA-COMP:10144, ChEBI:CHEBI:29969, ChEBI:CHEBI:57484, ChEBI:CHEBI:57834, ChEBI:CHEBI:82657; EC=2.5.1.46; Evidence={ECO:0000269|PubMed:30661771};.
GENATLAS Biochemistry:
deoxyhypusine synthase,required for the post-translational formation of hypusine by modification of a specific residue in eucaryotic initiation factor 5A (EI5FA),pivotal in cell proliferation

Enzyme Numbers (IUBMB) for DHPS Gene

Phenotypes From GWAS Catalog for DHPS Gene

Gene Ontology (GO) - Molecular Function for DHPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14622290
GO:0016740 transferase activity IEA --
GO:0034038 deoxyhypusine synthase activity IBA,IDA 8549832
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with DHPS: view
genes like me logo Genes that share phenotypes with DHPS: view

Human Phenotype Ontology for DHPS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DHPS Gene

MGI Knock Outs for DHPS:
  • Dhps Dhps<tm1Itl>
  • Dhps Dhps<tm2a(EUCOMM)Wtsi>
  • Dhps Dhps<tm2d(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for DHPS Gene

miRTarBase miRNAs that target DHPS

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHPS

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for DHPS Gene

Localization for DHPS Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DHPS gene
Compartment Confidence
cytosol 5
plasma membrane 3
cytoskeleton 3
nucleus 3
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DHPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with DHPS: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DHPS Gene

Pathways & Interactions for DHPS Gene

genes like me logo Genes that share pathways with DHPS: view

UniProtKB/Swiss-Prot P49366-DHYS_HUMAN

  • Pathway: Protein modification; eIF5A hypusination.

Gene Ontology (GO) - Biological Process for DHPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation TAS 7673224
GO:0008216 spermidine metabolic process IDA 23525104
GO:0008284 positive regulation of cell proliferation TAS 8549832
GO:0008612 peptidyl-lysine modification to peptidyl-hypusine IEA,TAS --
genes like me logo Genes that share ontologies with DHPS: view

No data available for SIGNOR curated interactions for DHPS Gene

Drugs & Compounds for DHPS Gene

(21) Drugs for DHPS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
spermidine Experimental Pharma Pore Blocker, Antagonist 0
1-Guanidinium-7-Aminoheptane Experimental Pharma Target, inhibitor 0
NAD Experimental Pharma Agonist, Full agonist, Activator 0

(17) Additional Compounds for DHPS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1,3-diaminopropane
  • 1,3-Propanediamine
  • 1,3-Propylenediamine
  • Propane-1,3-diamine
  • tn
  • 1,3-diamino-N-Propane
109-76-2
deoxyhypusine
  • N(6)-(4-Aminobutyl)lysine
  • N(6)-(4-Aminobutyl)-L-lysine
82543-85-9
genes like me logo Genes that share compounds with DHPS: view

Transcripts for DHPS Gene

mRNA/cDNA for DHPS Gene

6 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHPS

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DHPS Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^
SP1: - - - - - - - - -
SP2: - - - - - - -
SP3: - - - -
SP4: - - - -
SP5: - - -
SP6: - -
SP7: - - - - - -
SP8: - - - - - -
SP9: - - - - -
SP10: -
SP11: - -
SP12:
SP13: - - - - - - -
SP14: - - - -
SP15: - - - - - -
SP16: -

ExUns: 11 ^ 12
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for DHPS Gene

GeneLoc Exon Structure for
DHPS

Expression for DHPS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DHPS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DHPS Gene

This gene is overexpressed in Lung (16.2), Retina (6.8), Tonsil (6.7), and Testis (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DHPS Gene



Protein tissue co-expression partners for DHPS Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DHPS

SOURCE GeneReport for Unigene cluster for DHPS Gene:

Hs.79064

Evidence on tissue expression from TISSUES for DHPS Gene

  • Nervous system(4.9)
  • Lung(4.6)
  • Blood(4.4)
  • Muscle(2.8)
  • Skin(2.7)
  • Eye(2.4)
  • Intestine(2.4)
  • Liver(2.3)
  • Pancreas(2.3)
  • Kidney(2.3)
  • Lymph node(2.3)
  • Spleen(2.3)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with DHPS: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DHPS Gene

Orthologs for DHPS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DHPS Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DHPS 30 31
  • 99.46 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DHPS 30 31
  • 89.43 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DHPS 30 31
  • 88.62 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dhps 30
  • 87.26 (n)
Mouse
(Mus musculus)
Mammalia Dhps 30 17 31
  • 87.08 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DHPS 31
  • 86 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DHPS 31
  • 84 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DHPS 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dhps 30
  • 69.79 (n)
MGC76269 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.11626 30
Zebrafish
(Danio rerio)
Actinopterygii DHPS (2 of 2) 31
  • 82 (a)
OneToMany
dhps 30 31
  • 72.53 (n)
OneToMany
wufb52g04 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9614 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG8005 30 31 32
  • 65.14 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006531 30
  • 62.94 (n)
Worm
(Caenorhabditis elegans)
Secernentea Y17G7B.4 32
  • 58 (a)
dhps-1 30 31
  • 56.63 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AAL036W 30
  • 60.69 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DYS1 30 31 33
  • 59.31 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E12695g 30
  • 57.63 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons DHS 30
  • 59.56 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6077 30
Soybean
(Glycine max)
eudicotyledons Gma.5453 30
Rice
(Oryza sativa)
Liliopsida Os03g0740600 30
  • 61.33 (n)
Os.33154 30
Corn
(Zea mays)
Liliopsida Zm.12010 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7280 31
  • 64 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU05418 30
  • 61.49 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC1271.04c 30
  • 59.04 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.12482 30
Species where no ortholog for DHPS was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DHPS Gene

ENSEMBL:
Gene Tree for DHPS (if available)
TreeFam:
Gene Tree for DHPS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DHPS: view image

Paralogs for DHPS Gene

Paralogs for DHPS Gene

genes like me logo Genes that share paralogs with DHPS: view

Variants for DHPS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DHPS Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs1306390986 Uncertain Significance: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT; not provided 12,681,766(-) T/C INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
rs142633494 Uncertain Significance: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT; not provided 12,676,016(-) C/T SPLICE_DONOR_VARIANT,INTRON_VARIANT
rs1568317152 Conflicting Interpretations: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT; not provided 12,676,113(-) GATGTAA/G NON_CODING_TRANSCRIPT_VARIANT,INFRAME_DELETION,INTRON_VARIANT
rs758100382 Conflicting Interpretations: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT; not provided 12,679,696(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
VAR_082649 Neurodevelopmental disorder with seizures and speech and walking impairment (NEDSSWI) [MIM:618480] p.Asn173Ser

Additional dbSNP identifiers (rs#s) for DHPS Gene

Structural Variations from Database of Genomic Variants (DGV) for DHPS Gene

Variant ID Type Subtype PubMed ID
dgv138n111 CNV deletion 26073780
nsv1160586 CNV duplication 26073780
nsv953977 CNV deletion 24416366

Variation tolerance for DHPS Gene

Residual Variation Intolerance Score: 18.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.78; 58.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DHPS Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DHPS

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DHPS Gene

Disorders for DHPS Gene

MalaCards: The human disease database

(17) MalaCards diseases for DHPS Gene - From: UniProtKB/Swiss-Prot, OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neurodevelopmental disorder with seizures and speech and walking impairment
  • nedsswi
pneumocystosis
  • pneumocystis carinii pneumonia