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DHPS Gene

protein-coding   GIFtS: 65
GCID: GC19M012786

Deoxyhypusine Synthase

  See DHPS-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Deoxyhypusine Synthase1 2     EC 2.5.1.463 8
Migration-Inducing Gene 131 2     MIG132
DHS2 3     EC 2.5.18
DS2 3     

External Ids:    HGNC: 28691   Entrez Gene: 17252   Ensembl: ENSG000000950597   OMIM: 6009445   UniProtKB: P493663   

Export aliases for DHPS gene to outside databases

Previous GC identifers: GC19M012917 GC19M013009 GC19M012631 GC19M012647 GC19M012359


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 whipple disease, and pneumocystosis. GO annotations related to this gene include deoxyhypusine synthase activity.

UniProtKB/Swiss-Prot: DHYS_HUMAN, P49366
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 specific lysine residue of the eIF-5A precursor
protein to form the intermediate deoxyhypusine residue

Gene Wiki entry for DHPS Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the DHPS gene promoter:
         C/EBPbeta   NF-1/L   NF-1   p53   CUTL1   Nkx5-1   GATA-1   Evi-1   Pax-3   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDHPS promoter sequence
   Search Chromatin IP Primers for DHPS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DHPS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.2

DHPS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DHPS gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M012786:  view genomic region     (about GC identifiers)

Start:
12,786,531 bp from pter      End:
12,792,716 bp from pter
Size:
6,186 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DHYS_HUMAN, P49366 (See protein sequence)
Recommended Name: Deoxyhypusine synthase  
Size: 369 amino acids; 40971 Da
Cofactor: NAD
Subunit: Homotetramer formed by a dimer of dimers
Sequence caution: Sequence=AL520040; Type=Frameshift; Positions=329, 344, 355;
4 PDB 3D structures from and Proteopedia for DHPS:
1DHS (3D)        1RLZ (3D)        1ROZ (3D)        1RQD (3D)    
Secondary accessions: A8K688 M0R1I5 Q13184 Q13276 Q9UDG0
Alternative splicing: 3 isoforms:  P49366-1   P49366-2   P49366-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DHPS: NX_P49366

Explore proteomics data for DHPS at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys19, Lys73, Lys212, Lys329, Lys366
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DHPS (P49366) (see all 21)
     IRYLVQH  LVAETFA  RNGADYA  GINRIGN 


    See DHPS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001193903.1  NP_001921.1  NP_037538.1  

    ENSEMBL proteins: 
     ENSP00000471466   ENSP00000469366   ENSP00000210060   ENSP00000472096   ENSP00000221303  
     ENSP00000472330   ENSP00000471886   ENSP00000472122   ENSP00000468993   ENSP00000470754  
     ENSP00000472094   ENSP00000471280   ENSP00000472348   ENSP00000470188   ENSP00000468889  
    Reactome Protein details: P49366

    DHPS Human Recombinant Protein Products:

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    antibodies-online peptides for DHPS

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    antibodies-online antibodies for DHPS (41 products) 

    DHPS Assay Products:

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    antibodies-online kits for DHPS (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR002773 Deoxyhypusine_synthase

    Graphical View of Domain Structure for InterPro Entry P49366

    ProtoNet protein and cluster: P49366

    1 Blocks protein domain: IPB002773 Deoxyhypusine synthase

    UniProtKB/Swiss-Prot: DHYS_HUMAN, P49366
    Similarity: Belongs to the deoxyhypusine synthase family


    Find genes that share domains with DHPS           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DHYS_HUMAN, P49366
    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 specific lysine residue of the eIF-5A precursor
    protein to form the intermediate deoxyhypusine residue
    Catalytic activity: [eIF5A-precursor]-lysine + spermidine = [eIF5A-precursor]-deoxyhypusine + propane-1,3-diamine

         Genatlas biochemistry entry for DHPS:
    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): EC 2.5.1.461 2 EC 2.5.12

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI14622290
    GO:0034038deoxyhypusine synthase activity TAS--
         
    Find genes that share ontologies with DHPS           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for DHPS

    miRNA
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    miRTarBase miRNAs that target DHPS:
    hsa-mir-186-5p (MIRT045190)

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    1 qRT-PCR Assays for microRNA that regulate DHPS:
    hsa-miR-3121-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Sino Biological Human cDNA Clone for DHPS
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton3
    nucleus2
    plasma membrane2
    golgi apparatus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    Find genes that share ontologies with DHPS           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DHPS About    
    See pathways by source

    SuperPathContained pathways About
    1PTM- gamma carboxylation, hypusine formation and arylsulfatase activation
    PTM- gamma carboxylation, hypusine formation and arylsulfatase activation0.31
    Hypusine synthesis from eIF5A-lysine0.00
    hypusine biosynthesis0.00
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30


    Find genes that share SuperPaths with DHPS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for DHPS
        hypusine biosynthesis


    1 Reactome Pathway for DHPS
        Hypusine synthesis from eIF5A-lysine


    UniProtKB/Swiss-Prot: DHYS_HUMAN, P49366
    Pathway: Protein modification; eIF5A hypusination

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DHPS
    Interactions:

        GeneGlobe Interaction Network for DHPS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for DHPS (P493661, 2, 3 ENSP000002100604) via UniProtKB, MINT, STRING, and/or I2D (see all 59)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPL9P329692, 3, ENSP000003460224MINT-67227 I2D: score=5 STRING: ENSP00000346022
    RPL9P7P329692, 3MINT-67227 I2D: score=5 
    RPL9P8P329692, 3MINT-67227 I2D: score=5 
    RPL9P9P329692, 3MINT-67227 I2D: score=5 
    NUDT18Q6ZVK81, 2, 3, ENSP000003078524EBI-741925,EBI-740486 MINT-66764 I2D: score=5 STRING: ENSP00000307852
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006412translation TAS7673224
    GO:0008284positive regulation of cell proliferation TAS8549832
    GO:0008612peptidyl-lysine modification to hypusine TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    Find genes that share ontologies with DHPS           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DHPS (DHYS)

    7 HMDB Compounds for DHPS    About this table
    CompoundSynonyms CAS #PubMed Ids
    1,3-Diaminopropane1,3-Diamino-n-propane (see all 8)109-76-2--
    1-pyrrolinePyr1 5724-81-2--
    DehydrospermidineN,C-di(3-aminopropyl)-imine;N-(4-aminobutylidene)-N-(3-aminopropyl)amine ----
    DeoxyhypusineN(6)-(4-Aminobutyl)lysine (see all 2)82543-85-9--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    Spermidine1,5,10-Triazadecane (see all 15)124-20-9--

    2 DrugBank Compounds for DHPS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1-Guanidinium-7-Aminoheptane-- --targetinhibitor17139284 11752352 17016423 10592235
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for DHPS gene (see all 36)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dihydropteroate 98.7 136 11055650 (2), 19246797 (2), 17134675 (2), 9735930 (2) (see all 99)
    deoxyhypusine 98.5 240 14749535 (10), 11098085 (7), 15100216 (7), 10229683 (6) (see all 65)
    hypusine 97.5 49 16371467 (2), 17476569 (2), 10630376 (1), 7750572 (1) (see all 35)
    sulfadoxine 95.1 39 10722502 (3), 16517168 (2), 9391510 (2), 9735930 (2) (see all 32)
    sulfadoxine/pyrimethamine 93.1 79 16023986 (5), 12805261 (4), 11675058 (3), 15642967 (3) (see all 32)
    pyrimethamine 92.9 31 10722502 (3), 12805261 (2), 9735930 (2), 11846521 (1) (see all 26)
    dihydrofolate 91.2 70 9735930 (2), 8780462 (1), 10432070 (1), 10466980 (1) (see all 68)
    homospermidine 86.2 15 12620346 (4), 12788913 (3), 11197320 (1), 19254800 (1) (see all 6)
    fansidar 79.6 7 11280065 (4), 12685644 (1), 10461838 (1), 9364963 (1)
    amodiaquine 79.3 6 19194499 (1), 15642967 (1), 18337343 (1)



    Find genes that share compounds with DHPS           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DHPS gene (4 alternative transcripts): 
    NM_001206974.1  NM_001930.3  NM_013406.2  NM_013407.1  

    Unigene Cluster for DHPS:

    Deoxyhypusine synthase
    Hs.79064  [show with all ESTs]
    Unigene Representative Sequence: BC014016
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000598246 ENST00000600639 ENST00000210060(uc002mug.2 uc002muh.2 uc002muk.2 uc010xmn.2)
    ENST00000600864 ENST00000351660(uc002mui.2) ENST00000601639 ENST00000594424
    ENST00000600510 ENST00000601537 ENST00000595844 ENST00000593400 ENST00000596847
    ENST00000595912 ENST00000600451 ENST00000597152 ENST00000598850 ENST00000596162
    ENST00000593432
    miRNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat DHPS
      QuantiFast Probe-based Assays in human, mouse, rat DHPS

    Additional mRNA sequence: 

    AK291553.1 AK300498.1 AK304780.1 AY336090.1 BC000333.2 BC014016.2 BC128553.1 L39068.1 
    NR_038192.1 U26266.1 U32178.1 U40579.1 U79262.1 

    Selected DOTS entries (see all 27):

    DT.100868756  DT.75176677  DT.95154402  DT.95154416  DT.95224094  DT.75109309  DT.446116  DT.100868752 
    DT.100805888  DT.121449149  DT.95375288  DT.95154393  DT.100868762  DT.97860016  DT.100637802  DT.100868747 
    DT.92444614  DT.100868748  DT.121449443  DT.92037633  DT.92444624  DT.121449337  DT.100038902  DT.100868753 

    Selected AceView cDNA sequences (see all 339):

    BQ083299 BI196813 CR601991 BX354301 BM829382 CR616605 BM917225 CR625197 
    BQ447078 BQ613861 BM804837 BU501724 AU104785 CB154452 BX343022 BM710949 
    BM996817 BI771409 BF940778 BQ229997 AU122285 BQ636381 CB146554 CR615848 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DHPS (see all 16)    About this scheme

    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:                                                                    -     -                                   -                                             

    ExUns: 11 ^ 12
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for DHPS

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DHPS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAAGAACGA
    DHPS Expression
    About this image


    DHPS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Pancreas (Endocrine System)
     
     Uterus (Reproductive System)
     
     Spleen (Hematopoietic System)
    DHPS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DHPS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.79064
        Custom PCR Arrays for DHPS
    Primer
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DHPS gene from Selected species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dhps1 , 5 deoxyhypusine synthase1, 5 87.08(n)1
    91.33(a)1
      8 (41.55 cM)5
    3308171  NM_001039514.11  NP_001034603.11 
     850717575 
    lizard
    (Anolis carolinensis)
    Reptilia DHPS6
    deoxyhypusine synthase
    80(a)
    1 ↔ 1
    3(92231184-92250412)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.116262 Xenopus laevis transcribed sequence with weak similarity more 75.66(n)    CA982532.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb52g042 Danio rerio mRNA similar to deoxyhypusine synthase more 76.63(n)    BC047806.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG80051 , 3 hypusine biosynthesis from
    peptidyl-lysine deoxyhypusine more3
    CG80051
    64(a)3
    65.14(n)1
    64.18(a)1
      66B123
    389171  NM_139931.31  NP_648188.21 
    worm
    (Caenorhabditis elegans)
    Secernentea Y17G7B.43
    dhps-11
    dhps-11 58(a)3
    56.63(n)1
    59.94(a)1
      II(11992867-11995401)3
    1748401  NM_064156.31  NP_496557.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DYS1(YHR068W)4
    DYS11
    Deoxyhypusine synthase, catalyzes formation of deoxyhypusine, more4
    DYS11
    59.31(n)1
    62.06(a)1
      8(232133-233296)4
    8564651, 4  NP_011935.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons DHS1 DHS 59.56(n)
    62.78(a)
      830477  NM_120674.3  NP_196211.1 
    rice
    (Oryza sativa)
    Liliopsida Os.331542 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 72.54(n)    AK073852.1 


    ENSEMBL Gene Tree for DHPS (if available)
    TreeFam Gene Tree for DHPS (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DHPS (see all 255)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1421514241,2
    --12367072(+) ACCACA/GCCCGG 1 -- us2k10--------
    rs1163209931,2
    C,F--12367700(+) TAAGCG/ATCACC 3 -- us2k11Minor allele frequency- A:0.18WA 118
    rs1421219671,2
    C--12367750(+) GTTTCA/GTCCTT 3 -- us2k10--------
    rs1118063121,2
    C,F--12787147(+) GCTGTG/ATTTCC 4 -- int13Minor allele frequency- A:0.22WA CSA 122
    rs1465195521,2
    --12787191(+) CCCATA/CTGCAA 4 -- int10--------
    rs734994981,2
    C,F--12787295(+) TGGAGT/GTCTCA 4 -- int13Minor allele frequency- G:0.21WA CSA 122
    rs802861831,2
    C,F--12787374(+) CCCACT/CTCTCT 4 -- int11Minor allele frequency- C:0.18WA 118
    rs1410672831,2
    --12787408(+) CTCAGC/TCCACA 4 -- int10--------
    rs1148750451,2
    C,F--12787422(+) CCCAGC/GAGGCT 4 -- int11Minor allele frequency- G:0.18WA 118
    rs1448806771,2
    --12787485(+) CTCACC/GAGGTA 4 -- int10--------

    HapMap Linkage Disequilibrium report for DHPS (12786531 - 12792716 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for DHPS:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3733n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DHPS
    DNA2.0 Custom Variant and Variant Library Synthesis for DHPS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600944    OMIM disorders: --

    4 diseases for DHPS:    
    About MalaCards
    whipple disease    pneumocystosis    meningococcal meningitis    malaria

    3 diseases from the University of Copenhagen DISEASES database for DHPS:
    Pneumocystosis     Pneumonia     Malaria

    Find genes that share disorders with DHPS           About GenesLikeMe

    Selected Novoseek inferred disease relationships for DHPS gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    malaria falciparum 82.3 7 19055622 (2), 10466980 (1), 16124424 (1), 12533279 (1) (see all 6)
    malaria 78.3 26 17042947 (3), 16023986 (2), 10722502 (1), 16159551 (1) (see all 18)
    pneumonia pneumocystis carinii 75.8 10 19085210 (1), 14736212 (1), 11055650 (1), 15175932 (1) (see all 10)
    pneumonia 52.5 17 11520525 (2), 12890330 (1), 15504261 (1), 15175932 (1) (see all 14)
    parasitemia 45.2 2 19451638 (1), 20439953 (1)
    bronchiolitis 26.3 1 14736212 (1)
    aids 25.6 9 10915088 (2), 9631140 (2), 12890330 (1), 11992293 (1) (see all 7)
    immunodeficiency 22.5 3 7687120 (1), 10979917 (1), 15472859 (1)
    meningococcal diseases 15 1 9705404 (1)
    cancer 3.44 2 11098085 (1), 15296643 (1)


    Export disorders for DHPS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DHPS gene, integrated from 10 sources (see all 262):
    (articles sorted by number of sources associating them with DHPS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and expression of human deoxyhypusine synthase cDNA. Structure-function studies with the recombinant enzyme and mutant proteins. (PubMed id 7673224)1, 2, 3, 9 Joe Y.A.... Park M.H. (J. Biol. Chem. 1995)
    2. A new crystal structure of deoxyhypusine synthase reveals the configuration of the active enzyme and of an enzyme.NAD.inhibitor ternary complex. (PubMed id 15100216)1, 2, 9 Umland T.C.... Davies D.R. (J. Biol. Chem. 2004)
    3. Crystal structure of the NAD complex of human deoxyhypusine synthase: an enzyme with a ball-and-chain mechanism for blocking the active site. (PubMed id 9493264)1, 2, 9 Liao D.-I.... Davies D.R. (Structure 1998)
    4. Molecular characterization of a cDNA encoding functional human deoxyhypusine synthase and chromosomal mapping of the corresponding gene locus. (PubMed id 8549832)1, 2, 9 Bevec D....Steinkasserer A. (FEBS Lett. 1996)
    5. Purification and characterization of human deoxyhypusine synthase from HeLa cells. (PubMed id 7750572)1, 2, 9 Klier H....Eder J. (FEBS Lett. 1995)
    6. Localization and genomic structure of human deoxyhypusine synthase gene on chromosome 19p13.2-distal 19p13.1. (PubMed id 9666110)1, 2, 9 Mantuano E....Jodice C. (Gene 1998)
    7. Molecular cloning and functional expression of human deoxyhypusine synthase cDNA based on expressed sequence tag information. (PubMed id 8615810)1, 2, 9 Yan Y.P.... Chen K.Y. (Biochem. J. 1996)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 2 Yu W.... Gibbs R.A. (Genome Res. 1997)
    10. Protein kinase CK2 phosphorylates and interacts with deoxyhypusine synthase in HeLa cells. (PubMed id 14749535)1, 9 Kang K.R. and Chung S.I. (amp 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1725 HGNC: 2869 AceView: DHPS Ensembl:ENSG00000095059 euGenes: HUgn1725
    ECgene: DHPS H-InvDB: DHPS

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DHPS Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DHPS gene:
    Search GeneIP for patents involving DHPS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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