Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

H6PD Gene

protein-coding   GIFtS: 61
GCID: GC01P009294

Hexose-6-Phosphate Dehydrogenase (Glucose 1-Dehydrogenase)

(Previous name: glucose dehyrogenase)
(Previous symbol: GDH)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
Hexose-6-Phosphate Dehydrogenase (Glucose 1-Dehydrogenase)1 2     GDH/6PGL Endoplasmic Bifunctional Protein2
GDH1 2 3 5     Glucose 1- Dehydrogenase2
Glucose Dehyrogenase1 2     Glucose Dehydrogenase2
G6PDH2 5     Glucose-6-Phosphate Dehydrogenase, Salivary2
6-phosphogluconolactonase2     EC 1.1.1.498
CORTRD12     EC 2.7.4.38
G6PD, H Form2     EC 3.1.1.318

External Ids:    HGNC: 47951   Entrez Gene: 95632   Ensembl: ENSG000000492397   OMIM: 1380905   UniProtKB: O954793   

Export aliases for H6PD gene to outside databases

Previous GC identifers: GC01P008915 GC01P009105 GC01P009004 GC01P009229 GC01P008445


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for H6PD Gene:
There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is
autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate,
whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not
found in red cells. (provided by RefSeq, Jul 2008)

GeneCards Summary for H6PD Gene: 
H6PD (hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)) is a protein-coding gene. Diseases associated with H6PD include cortisone reductase deficiency, and parotitis, and among its related super-pathways are Metabolism. GO annotations related to this gene include glucose-6-phosphate dehydrogenase activity and carbohydrate binding. An important paralog of this gene is G6PD.

UniProtKB/Swiss-Prot: G6PE_HUMAN, O95479
Function: Oxidizes glucose-6-phosphate and glucose, as well as other hexose-6-phosphates

Gene Wiki entry for H6PD 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_021937.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the H6PD gene promoter:
         ER-alpha   Spz1   NF-1   GCNF   RORalpha2   Max   GCNF-1   Ik-1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): H6PD promoter sequence
   Search SABiosciences Chromatin IP Primers for H6PD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat H6PD


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

Entrez Gene cytogenetic band: 1p36   Ensembl cytogenetic band:  1p36.22   HGNC cytogenetic band: 1p36

H6PD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
H6PD gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P009294:  view genomic region     (about GC identifiers)

Start:
9,294,834 bp from pter      End:
9,331,396 bp from pter
Size:
36,563 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: G6PE_HUMAN, O95479 (See protein sequence)
Recommended Name: GDH/6PGL endoplasmic bifunctional protein precursor  
Size: 791 amino acids; 88893 Da
Subcellular location: Endoplasmic reticulum lumen. Note=Microsomes, endoplasmic reticulum lumen
Sequence caution: Sequence=CAH18137.1; Type=Erroneous initiation;
Secondary accessions: Q4TT33 Q66I35 Q68DT3

Explore the universe of human proteins at neXtProt for H6PD: NX_O95479

Explore proteomics data for H6PD at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95479

  • 3 DME Specific Peptides for H6PD (O95479)
     PLSDYYA  HTASLFP  RWEGVPF 

    H6PD Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    H6PD Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001269516.1  NP_004276.2  

    ENSEMBL proteins: 
     ENSP00000366620   ENSP00000473348  

    Human Recombinant Protein Products for H6PD: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for H6PD
    OriGene Protein Over-expression Lysate for H6PD
    OriGene MassSpec for H6PD 
    OriGene Custom Protein Services for H6PD
    GenScript Custom Purified and Recombinant Proteins Services for H6PD
    Novus Biologicals H6PD Protein
    Novus Biologicals H6PD Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for H6PD 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IEA--
    GO:0005788endoplasmic reticulum lumen IEA--
    GO:0043231intracellular membrane-bounded organelle ----

    H6PD for ontologies           About GeneDecksing



    H6PD Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for H6PD
    OriGene Custom Antibody Services for H6PD
    GenScript Custom Superior Antibodies Services for H6PD
    Novus Biologicals H6PD Antibodies
    Abcam antibodies for H6PD
    Cloud-Clone Corp. Antibodies for H6PD 
    ThermoFisher Antibodies for H6PD
    LSBio Antibodies in human, mouse, rat for H6PD 

    Assay Products for H6PD: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for H6PD
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for H6PD
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for H6PD 
    Cloud-Clone Corp. CLIAs for H6PD


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR019796 G6P_DH_AS
     IPR022675 G6P_DH_C
     IPR006148 Glc/Gal-6P_isomerase
     IPR001282 G6P_DH
     IPR022674 G6P_DH_NAD-bd

    Graphical View of Domain Structure for InterPro Entry O95479

    ProtoNet protein and cluster: O95479

    UniProtKB/Swiss-Prot: G6PE_HUMAN, O95479
    Similarity: In the N-terminal section; belongs to the glucose-6-phosphate dehydrogenase family
    Similarity: In the C-terminal section; belongs to the glucosamine/galactosamine-6-phosphate isomerase family.
    6-phosphogluconolactonase subfamily


    H6PD for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: G6PE_HUMAN, O95479
    Function: Oxidizes glucose-6-phosphate and glucose, as well as other hexose-6-phosphates
    Catalytic activity: Beta-D-glucose + NAD(P)(+) = D-glucono-1,5-lactone + NAD(P)H
    Catalytic activity: D-glucose 6-phosphate + NAD(P)(+) = D-glucono-1,5-lactone 6-phosphate + NAD(P)H
    Catalytic activity: 6-phospho-D-glucono-1,5-lactone + H(2)O = 6-phospho-D-gluconate

         Enzyme Numbers (IUBMB): EC 2.7.4.32 EC 3.1.1.312 EC 1.1.1.492

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004345glucose-6-phosphate dehydrogenase activity IEA--
    GO:00170576-phosphogluconolactonase activity IEA--
    GO:0030246carbohydrate binding IEA--
    GO:0047936glucose 1-dehydrogenase [NAD(P)] activity IEA--
    GO:0050661NADP binding IEA--
         
    H6PD for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for H6pd):
     behavior/neurological  endocrine/exocrine gland  growth/size  homeostasis/metabolism  muscle 
     other 

    H6PD for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out H6pdtm1Pmst for H6PD

       inGenious Targeting Laboratory - Custom generated mouse model solutions for H6PD 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for H6PD

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for H6PD 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for H6PD 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat H6PD
    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate H6PD (see all 16):
    hsa-miR-30c hsa-miR-875-3p hsa-miR-330-5p hsa-miR-3616-5p hsa-miR-30d hsa-miR-3200-3p hsa-miR-30a hsa-miR-326
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for H6PD
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat H6PD

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for H6PD
    Sirion Biotech Customized adenovirus for overexpression of H6PD

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for H6PD (see all 8)
    OriGene ORF clones in mouse, rat for H6PD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: H6PD (NM_004285)
    Sino Biological Human cDNA Clone for H6PD
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for H6PD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat H6PD
    Sirion Biotech Customized lentivirus for stable overexpression of H6PD 
                         Customized lentivirus expression plasmids for stable overexpression of H6PD 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for H6PD
    Search LifeMap BioReagents cell lines for H6PD
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for H6PD


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for H6PD About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolic pathways0.40
    2Pentose phosphate pathway
    Pentose phosphate pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    2         Kegg Pathways  (Kegg details for H6PD):
        Pentose phosphate pathway
    Metabolic pathways


    H6PD for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for H6PD

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for H6PD (ENSP000003666204) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    G6PDENSP000003771924STRING: ENSP00000377192
    GPIENSP000003488774STRING: ENSP00000348877
    PGDENSP000002707764STRING: ENSP00000270776
    PGLSENSP000002526034STRING: ENSP00000252603
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process ----
    GO:0006006glucose metabolic process ----
    GO:0006098pentose-phosphate shunt IEA--
    GO:0006739NADP metabolic process ----
    GO:0055114oxidation-reduction process ----

    H6PD for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    H6PD for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for H6PD (G6PE)

    10 HMDB Compounds for H6PD    About this table
    CompoundSynonyms CAS #PubMed Ids
    6-Phosphogluconic acid6-Phospho-D-gluconate (see all 9)921-62-0--
    6-Phosphonoglucono-D-lactone6-(dihydrogen phosphate)-(8CI)-D-Gluconic acid delta-lactone (see all 13)2641-81-8--
    Beta-D-Glucoseb-D-Glucopyranose (see all 8)492-61-5--
    Gluconolactone1,5-Gluconolactone (see all 35)90-80-2--
    MagnesiumMagnesium (see all 2)7439-95-4--
    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--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 DrugBank Compound for H6PD    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--16898590 17171348 17298031 17531229 17269701

    10/93 Novoseek inferred chemical compound relationships for H6PD gene (see all 93)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 6-phosphate 92.9 193 7781912 (2), 9392523 (2), 17137780 (2), 19804362 (2) (see all 99)
    11beta-hydroxysteroid 86.2 35 18622204 (4), 18381077 (2), 18963204 (2), 19010388 (2) (see all 22)
    pyrroloquinoline quinone 85.9 21 16131222 (2), 10933491 (1), 11225357 (1), 9670773 (1) (see all 11)
    o-ethylhydroxylamine 80.2 1 10087986 (1)
    cortisone 78.6 16 15956339 (1), 17062770 (1), 16091483 (1), 17240046 (1) (see all 12)
    no-dimethylhydroxylamine 78.4 2 9137808 (1)
    neotetrazolium 76.9 5 7930518 (3), 9306960 (1)
    6-phosphogluconate 76.8 16 8470806 (1), 11072071 (1), 20127344 (1), 1381200 (1) (see all 13)
    nadph 74 52 12858176 (2), 10329961 (2), 17303087 (2), 19804362 (2) (see all 39)
    glucose 68.7 285 17365439 (5), 8082531 (4), 16556607 (4), 7764620 (3) (see all 99)

    Search CenterWatch for drugs/clinical trials and news about H6PD / G6PE

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for H6PD gene (2 alternative transcripts): 
    NM_001282587.1  NM_004285.3  

    Unigene Cluster for H6PD:

    Hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
    Hs.463511  [show with all ESTs]
    Unigene Representative Sequence: NM_004285
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377403(uc001apt.3) ENST00000602477 ENST00000495451
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat H6PD
    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate H6PD (see all 16):
    hsa-miR-30c hsa-miR-875-3p hsa-miR-330-5p hsa-miR-3616-5p hsa-miR-30d hsa-miR-3200-3p hsa-miR-30a hsa-miR-326
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for H6PD
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat H6PD
    Clone
    Products:
         
    OriGene clones in human, mouse for H6PD (see all 8)
    OriGene ORF clones in mouse, rat for H6PD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: H6PD (NM_004285)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for H6PD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat H6PD
    Sirion Biotech Customized lentivirus for stable overexpression of H6PD 
                         Customized lentivirus expression plasmids for stable overexpression of H6PD 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for H6PD
    OriGene qSTAR qPCR primer pairs in human, mouse for H6PD
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat H6PD
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat H6PD
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat H6PD

    Additional mRNA sequence: 

    AJ012590.1 AK024548.1 AK026460.1 AK091191.1 AL832271.1 AL833024.1 AY142148.1 BC007368.2 
    BC026099.1 BC044256.1 BC069028.1 BC081559.1 BC098450.1 CR749282.1 

    11 DOTS entries:

    DT.40133057  DT.439862  DT.92418967  DT.100783194  DT.121337152  DT.121337183  DT.86846264  DT.100786227 
    DT.121496200  DT.452870  DT.99974386 

    24/161 AceView cDNA sequences (see all 161):

    BQ671499 AK024548 BU070635 AA609834 BF744875 BQ675151 AJ012590 AL602889 
    CA420503 NM_004285 AI264583 AI867461 CK902392 AL707973 AI744639 BU071074 
    BC044256 AI362636 BQ706722 BQ436379 BU429746 CD367658 CB989699 BC007368 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    H6PD expression in normal human tissues (normalized intensities)      H6PD embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTGGCCAGA
    H6PD Expression
    About this image


    H6PD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/32 selected tissues (see all 32) fully expand
     
     Uterus (Reproductive System)    fully expand to see all 5 entries
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             testis ; cells in seminiferus ducts   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   
     
     Breast
             breast ; myoepithelial cells   

    See H6PD Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for H6PD

    SOURCE GeneReport for Unigene cluster: Hs.463511

    UniProtKB/Swiss-Prot: G6PE_HUMAN, O95479
    Tissue specificity: Present in most tissues examined, strongest in liver

        SABiosciences Expression via Pathway-Focused PCR Array including H6PD: 
              Glucose Metabolism in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for H6PD
    OriGene qSTAR qPCR primer pairs in human, mouse for H6PD
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat H6PD
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat H6PD
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat H6PD
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for H6PD

    (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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for H6PD gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia H6pd1 , 5 hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)1, 5 83.78(n)1
    83.69(a)1
      4 (80.65 cM)5
    1001981  NM_173371.31  NP_775547.21 
     1499794755 
    chicken
    (Gallus gallus)
    Aves H6PD1 hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 70.61(n)
    69.85(a)
      428188  XM_425746.3  XP_425746.3 
    lizard
    (Anolis carolinensis)
    Reptilia H6PD6
    hexose-6-phosphate dehydrogenase (glucose 1-dehydr...
    63(a)
    1 ↔ 1
    GL343701.1(136559-160851)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.301862 Xenopus laevis transcribed sequence with weak similarity more 71.46(n)    48022608 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5693481 GDH/6PGL endoplasmic bifunctional protein-like 56.44(n)
    53.84(a)
      569348  XM_692728.4  XP_697820.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG71406
    --
    24(a)
    1 ↔ 1
    3L(22019330-22021425)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ZWF16
    Glucose-6-phosphate dehydrogenase (G6PD), catalyze...
    28(a)
    1 → many
    XIV(196426-197943)


    ENSEMBL Gene Tree for H6PD (if available)
    TreeFam Gene Tree for H6PD (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for H6PD gene
    G6PD2  
    2 SIMAP similar genes for H6PD using alignment to 2 protein entries:     G6PE_HUMAN (see all proteins):
    G6PD    PGLS

    H6PD for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1121 SNPs in H6PD are shown (see all 1121)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0691934
    Cortisone reductase deficiency (CRD)4--see VAR_0691932 P L mis40--------
    rs66888321,2,4
    C,F,A,HCortisone reductase deficiency (CRD)4 unknown19343853(+) TGTGCA/GGGAGC 2 Q R mis1 ese329Minor allele frequency- N:0.00EA NA NS WA CSA EU 8472
    rs1890154981,2
    --9294798(+) CGCGCC/GCGCCC 1 -- us2k10--------
    rs75234981,2
    C--9294808(+) cccgcC/Tgcgcg 1 -- us2k1 tfbs30--------
    rs37525471,2
    C,F--9294903(-) GCCAAG/CGCCAG 1 -- ut512Minor allele frequency- C:0.37NA 122
    rs3707513541,2
    C--9297296(+) TTTTT-/TTTTTT
    TTTTTTTT
    TTTGA
    1 -- int10--------
    rs561109571,2
    C--9307308(+) CGGCTG/-GCAAA 1 -- int14Minor allele frequency- -:0.00NA CSA 10
    rs599971831,2
    C--9311936(+) TTTTT-/TAATCT 1 -- int11Minor allele frequency- T:0.00CSA 2
    rs1450504761,2
    --9312819(+) ATGGCA/GCGATC 1 -- us2k10--------
    rs1836772661,2
    C--9312821(+) GGCGCA/GATCTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for H6PD (9294834 - 9331396 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for H6PD:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2743563CNV Deletion23290073
    esv23318CNV Loss19812545
    nsv871755CNV Loss21882294
    nsv832092CNV Loss17160897
    nsv520191CNV Gain19592680
    esv2750845CNV Gain17911159
    dgv3n27CNV Gain19166990
    dgv2e55CNV Gain17911159
    dgv131n71CNV Gain21882294


    Human Gene Mutation Database (HGMD): H6PD
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing H6PD
    DNA2.0 Custom Variant and Variant Library Synthesis for H6PD

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 138090   
    OMIM disorders: 604931  
    UniProtKB/Swiss-Prot: G6PE_HUMAN, O95479
  • Cortisone reductase deficiency (CRD) [MIM:604931]: In CRD, activation of cortisone to cortisol does not
    occur, resulting in adrenocorticotropin-mediated androgen excess and a phenotype resembling polycystic ovary
    syndrome (PCOS). Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/49 diseases for H6PD (see all 49):    About MalaCards
    cortisone reductase deficiency    parotitis    lymphosarcoma    protein-energy malnutrition
    nonalcoholic steatohepatitis    polycystic ovary syndrome    gastric ulcer    tuberculosis
    neuromuscular disease    pulmonary tuberculosis    keloids    hyperglycemia
    hypoglycemia    diabetes mellitus    hepatoblastoma    thalassemia
    colon adenocarcinoma    peritonitis    oral cancer    cataract


    H6PD for disorders           About GeneDecksing

    10/31 Novoseek inferred disease relationships for H6PD gene (see all 31)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cortisone reductase deficiency 94 12 15956339 (1), 17062770 (1), 16091483 (1), 17240046 (1) (see all 9)
    enzymopathy 64.5 4 16987707 (1), 15555758 (1), 16118620 (1), 7984573 (1)
    g6pd deficiency 33.7 1 19589177 (1)
    polycystic ovary syndrome 23.3 3 15827106 (1), 19704410 (1)
    insulin resistance 22.8 1 14502105 (1)
    enzyme deficiency 20.4 1 7984573 (1)
    obesity 17.5 1 18622204 (1)
    necrosis 5.4 1 17303087 (1)
    metastasis 2.93 3 7930518 (2), 10440855 (1)
    diabetes mellitus 0.787 2 11234285 (1), 20017397 (1)

    Genetic Association Database (GAD): H6PD
    Human Genome Epidemiology (HuGE) Navigator: H6PD (7 documents)

    Export disorders for H6PD 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)
    About This Section

    PubMed articles for H6PD gene, integrated from 9 sources (see all 351):
    (articles sorted by number of sources associating them with H6PD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) encoded at 1p36: coding sequence and expression. (PubMed id 10349511)1, 2, 3, 9 Mason P.J....Vulliamy T.J. (1999)
    2. Genotypes at 11beta-hydroxysteroid dehydrogenase type 11B1 and hexose-6-phosphate dehydrogenase loci are not risk factors for apparent cortisone reductase deficiency in a large population-based sample. (PubMed id 16091483)1, 4, 9 White P.C. (2005)
    3. Hexose-6-phosphate dehydrogenase: a new risk gene for multiple sclerosis. (PubMed id 19935835)1, 4, 9 Alcina A....Matesanz F. (2010)
    4. Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. (PubMed id 12858176)1, 2, 9 Draper N....Stewart P.M. (2003)
    5. Lack of Association of the 11beta-hydroxysteroid dehydrogenase type 1 gene 83,557insA and hexose-6-phosphate dehydrogenase gene R453Q polymorphisms with body composition, adrenal androgen production, blood pressure, glucose metabolism, and dementia. (PubMed id 17062770)1, 4, 9 Smit P....Lamberts S.W. (2007)
    6. A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11beta-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome. (PubMed id 15827106)1, 4, 9 San Millan J.L....Escobar-Morreale H.F. (2005)
    7. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    8. Family-based analysis of candidate genes for polycyst ic ovary syndrome. (PubMed id 20200332)1, 4 Ewens K.G....Spielman R.S. (2010)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    10. 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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 9563 HGNC: 4795 AceView: H6PD Ensembl:ENSG00000049239 euGenes: HUgn9563
    ECgene: H6PD Kegg: 9563 H-InvDB: H6PD

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for H6PD Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for H6PD Genetics and Cytogenetics in Oncology and Haematology
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=H6PD

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for H6PD gene:
    Search GeneIP for patents involving H6PD

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for H6PD   OriGene RNAi products in human, mouse, rat for H6PD  
     OriGene qPCR primer pairs and template standards for H6PD   OriGene Protein Over-expression Lysate for H6PD  
     OriGene MassSpec something-or-other for H6PD   OriGene clones in human, mouse for H6PD  
     OriGene qSTAR qPCR primer pairs in human, mouse for H6PD   OriGene Purified Protein for H6PD  
     OriGene ORF clones in mouse, rat for H6PD   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for H6PD   OriGene Custom Protein Services for H6PD  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat H6PD
     QIAGEN SeqTarget long-range PCR primers for resequencing H6PD
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat H6PD
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat H6PD
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat H6PD
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat H6PD
     GenScript Custom Purified and Recombinant Proteins Services for H6PD GenScript cDNA clones with any tag delivered in your preferred vector for H6PD
     GenScript Custom Assay Services for H6PD GenScript Custom Superior Antibodies Services for H6PD
     GenScript Custom overexpressing Cell Line Services for H6PD CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in H6PD promoter
     Search Chromatin IP Primers for H6PD
     RT2 qPCR Primer Assay in human, mouse, rat H6PD
     Search GNC Networks for H6PD
     SABiosciences PCR Arrays including human, mouse, rat H6PD
     Search Tocris compounds for H6PD (G6PE)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     cDNA Clones for H6PD
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     H6PD antibodies
     H6PD proteins
     H6PD lysates
     Antibodies for H6PD
     See all of Abcam's Antibodies, Kits and Proteins for H6PD
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for H6PD
     Antibodies for H6PD
     ELISAs for H6PD
     CLIAs for H6PD
     Search LifeMap BioReagents cell lines for H6PD
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for H6PD
     Browse SwitchGear 3'UTR luciferase reporter plasmids for H6PD
     SwitchGear Promoter luciferase reporter plasmids for H6PD
     ThermoFisher Antibodies for H6PD
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat H6PD
     inGenious Targeting Laboratory - Custom generated mouse model solutions for H6PD
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for H6PD
    Customized:
     lentivirus for stable overexpression of H6PD
     lentivirus expression plasmids for stable overexpression of H6PD
     adenovirus for overexpression of H6PD
     LSBio Antibodies in human, mouse, rat for H6PD
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      H6PD gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4