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    DHPS deoxyhypusine synthase [ Homo sapiens (human) ]

    Gene ID: 1725, updated on 27-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
    • 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
    		Compare labs

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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