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DHPS deoxyhypusine synthase [ Homo sapiens (human) ]

Gene ID: 1725, updated on 2-Nov-2024

Summary

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Official Symbol
DHPSprovided by HGNC
Official Full Name
deoxyhypusine synthaseprovided by HGNC
Primary source
HGNC:HGNC:2869
See related
Ensembl:ENSG00000095059 MIM:600944; AllianceGenome:HGNC:2869
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DS; DHS; MIG13; NEDSSWI
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 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]
Expression
Ubiquitous expression in ovary (RPKM 15.4), brain (RPKM 14.5) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See DHPS in Genome Data Viewer
Location:
19p13.13
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (12672470..12681880, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (12796968..12806380, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12783284..12792694, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10155 Neighboring gene mannosidase alpha class 2B member 1 Neighboring gene MPRA-validated peak3365 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12775226-12776174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12776175-12777122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14069 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:12781177-12781850 Neighboring gene WD repeat domain 83 opposite strand Neighboring gene WD repeat domain 83 Neighboring gene CRISPRi-FlowFISH-validated DHPS regulatory element Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14071 Neighboring gene CRISPRi-FlowFISH-validated WDR83OS regulatory elements Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12793915-12794437 Neighboring gene G protein subunit gamma 14 Neighboring gene F-box and WD repeat domain containing 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14072

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The gene coding for human deoxyhypusine synthase (DHPS) maps to chromosome 19p13.11-p13.12. Jones T, et al. Genomics, 1996 Aug 1. PMID 8812510
  2. Protein kinase CK2 phosphorylates and interacts with deoxyhypusine synthase in HeLa cells. Kang KR, et al. Exp Mol Med, 2003 Dec 31. PMID 14749535
  3. Half Way to Hypusine-Structural Basis for Substrate Recognition by Human Deoxyhypusine Synthase. Wątor E, et al. Biomolecules, 2020 Mar 30. PMID 32235505, Free PMC Article
  4. Localization and genomic structure of human deoxyhypusine synthase gene on chromosome 19p13.2-distal 19p13.1. Mantuano E, et al. Gene, 1998 Jul 17. PMID 9666110
  5. Functional significance of eIF5A and its hypusine modification in eukaryotes. Park MH, et al. Amino Acids, 2010 Feb. PMID 19997760, Free PMC Article

See all (82) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical significance of mutations in dihydropteroate synthase in Pneumocystis jirovecii pneumonia among non-HIV-infected patients.
    Title: Clinical significance of mutations in dihydropteroate synthase in Pneumocystis jirovecii pneumonia among non-HIV-infected patients.
  2. Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis.
    Title: Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis.
  3. Cryo-EM structure of human eIF5A-DHS complex reveals the molecular basis of hypusination-associated neurodegenerative disorders.
    Title: Cryo-EM structure of human eIF5A-DHS complex reveals the molecular basis of hypusination-associated neurodegenerative disorders.
  4. eIF5A-Independent Role of DHPS in p21(CIP1) and Cell Fate Regulation.
    Title: eIF5A-Independent Role of DHPS in p21(CIP1) and Cell Fate Regulation.
  5. Half Way to Hypusine-Structural Basis for Substrate Recognition by Human Deoxyhypusine Synthase.
    Title: Half Way to Hypusine-Structural Basis for Substrate Recognition by Human Deoxyhypusine Synthase.
  6. DHPS-dependent hypusination of eIF5A1/2 is necessary for TGFbeta/fibronectin-induced breast cancer metastasis and associates with prognostically unfavorable genomic alterations in TP53
    Title: DHPS-dependent hypusination of eIF5A1/2 is necessary for TGFβ/fibronectin-induced breast cancer metastasis and associates with prognostically unfavorable genomic alterations in TP53.
  7. data suggest that rare biallelic variants in DHPS result in reduced enzyme activity that limits the hypusination of eIF5A and are associated with a neurodevelopmental disorder
    Title: Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.
  8. the use of N1-Guanyl-1,7-diaminoheptane, a DHPS inhibitor, resulted in a significant decrease in tumor formation in vivo. In patients with esophageal squamous cell carcinoma (ESCC), overexpression of DHPS in ESCC tumors was significantly associated with worse recurrence-free survival, and correlated with distant metastasis.
    Title: The hypusine cascade promotes cancer progression and metastasis through the regulation of RhoA in squamous cell carcinoma.
  9. Whereas, dhps mutation study revealed that triple mutant haplotype AGEAA (S436A+A437G+K540E) associated with Sulphadoxine resistance was found among 26% of P. falciparum field isolates.
    Title: Genetic polymorphisms associated with sulphadoxine-pyrimethamine drug resistance among Plasmodium falciparum field isolates in malaria endemic areas of Assam.
  10. eIF-5A as well as the hypusine-forming enzymes deoxyhypusine synthase (DHS) and deoxyhypusine hydroxylase (DOHH) are highly overexpressed in glioblastoma patient sample
    Title: Expression of eukaryotic initiation factor 5A and hypusine forming enzymes in glioblastoma patient samples: implications for new targeted therapies.
Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Neurodevelopmental disorder with seizures and speech and walking impairment
MedGen: C5193119 OMIM: 618480 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables deoxyhypusine synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables deoxyhypusine synthase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in glucose homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in peptidyl-lysine modification to peptidyl-hypusine IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of T cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of cell population proliferation TAS
Traceable Author Statement
more info
 PubMed 
involved_in spermidine catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in spermidine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in spermidine metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in translation TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
deoxyhypusine synthase
Names
migration-inducing gene 13
NP_001193903.1
NP_001356620.1
NP_001356621.1
NP_001356622.1
NP_001921.1
NP_037538.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001206974.2 → NP_001193903.1  deoxyhypusine synthase isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (d) is shorter and has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AC010422, AL520040, AW250887
    Consensus CDS
    CCDS59354.1
    UniProtKB/Swiss-Prot
    P49366
    Related
    ENSP00000471886.1, ENST00000594424.5
    Conserved Domains (1) summary
    pfam01916
    Location:55 → 309
    DS; Deoxyhypusine synthase

  2. NM_001369691.1 → NP_001356620.1  deoxyhypusine synthase isoform e

    Status: REVIEWED

    Source sequence(s)
    AC010422
    Conserved Domains (1) summary
    pfam01916
    Location:44 → 296
    DS; Deoxyhypusine synthase

  3. NM_001369692.1 → NP_001356621.1  deoxyhypusine synthase isoform f

    Status: REVIEWED

    Source sequence(s)
    AC010422
    UniProtKB/TrEMBL
    Q5J8M5
    Conserved Domains (1) summary
    pfam01916
    Location:44 → 261
    DS; Deoxyhypusine synthase

  4. NM_001369693.1 → NP_001356622.1  deoxyhypusine synthase isoform g

    Status: REVIEWED

    Source sequence(s)
    AC010422
    Conserved Domains (1) summary
    pfam01916
    Location:1 → 171
    DS; Deoxyhypusine synthase

  5. NM_001930.4 → NP_001921.1  deoxyhypusine synthase isoform a

    See identical proteins and their annotated locations for NP_001921.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AW250887, DA524549, U79262
    Consensus CDS
    CCDS12276.1
    UniProtKB/Swiss-Prot
    A8K688, M0R1I5, P49366, Q13184, Q13276, Q9UDG0
    Related
    ENSP00000210060.6, ENST00000210060.12
    Conserved Domains (1) summary
    pfam01916
    Location:45 → 352
    DS; Deoxyhypusine synthase

  6. NM_013406.3 → NP_037538.1  deoxyhypusine synthase isoform b

    See identical proteins and their annotated locations for NP_037538.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon and uses an alternate splice site in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AC010422, AW250887, BU844677, DA524549, U26266
    Consensus CDS
    CCDS12277.1
    UniProtKB/TrEMBL
    Q5J8M5
    Related
    ENSP00000221303.5, ENST00000351660.9
    Conserved Domains (1) summary
    pfam01916
    Location:45 → 304
    DS; Deoxyhypusine synthase

RNA

  1. NR_038192.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AW250887, AY336090, DA524549
    Related
    ENST00000601537.5

  2. NR_161467.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010422

  3. NR_161468.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010422

  4. NR_161469.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010422
    Related
    ENST00000601639.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    12672470..12681880 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    12796968..12806380 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P49366.1 GenPept UniProtKB/Swiss-Prot:P49366

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