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Aliases for H6PD Gene

Aliases for H6PD Gene

  • Hexose-6-Phosphate Dehydrogenase (Glucose 1-Dehydrogenase) 2 3
  • Glucose Dehyrogenase 2 3
  • GDH 3 4
  • Glucose-6-Phosphate Dehydrogenase, Salivary 3
  • 6-Phosphogluconolactonase 3
  • Glucose 1- Dehydrogenase 3
  • Glucose Dehydrogenase 3
  • G6PD, H Form 3
  • EC 1.1.1.49 63
  • EC 3.1.1.31 63
  • EC 2.7.4.3 63
  • CORTRD1 3
  • G6PDH 3

External Ids for H6PD Gene

Previous HGNC Symbols for H6PD Gene

  • GDH

Previous GeneCards Identifiers for H6PD Gene

  • GC01P008915
  • GC01P009105
  • GC01P009004
  • GC01P009229
  • GC01P008445

Summaries for H6PD Gene

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 1 and hyperandrogenism due to cortisone reductase deficiency. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include carbohydrate binding and glucose-6-phosphate dehydrogenase activity. An important paralog of this gene is G6PD.

UniProtKB/Swiss-Prot for H6PD Gene

  • Oxidizes glucose-6-phosphate and glucose, as well as other hexose-6-phosphates

Gene Wiki entry for H6PD Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for H6PD Gene

Genomics for H6PD Gene

Regulatory Elements for H6PD Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for H6PD Gene

Chromosome:
1
Start:
9,234,775 bp from pter
End:
9,271,337 bp from pter
Size:
36,563 bases
Orientation:
Plus strand

Genomic View for H6PD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for H6PD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for H6PD Gene

Proteins for H6PD Gene

  • Protein details for H6PD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95479-G6PE_HUMAN
    Recommended name:
    GDH/6PGL endoplasmic bifunctional protein
    Protein Accession:
    O95479
    Secondary Accessions:
    • Q4TT33
    • Q66I35
    • Q68DT3

    Protein attributes for H6PD Gene

    Size:
    791 amino acids
    Molecular mass:
    88893 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAH18137.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for H6PD Gene

Proteomics data for H6PD Gene at MOPED

Selected DME Specific Peptides for H6PD Gene

Post-translational modifications for H6PD Gene

  • Glycosylation at Asn 157, Asn 282, and Asn 683
  • Modification sites at PhosphoSitePlus

Other Protein References for H6PD Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for H6PD Gene

Graphical View of Domain Structure for InterPro Entry

O95479

UniProtKB/Swiss-Prot:

G6PE_HUMAN :
  • In the N-terminal section; belongs to the glucose-6-phosphate dehydrogenase family.
Family:
  • In the N-terminal section; belongs to the glucose-6-phosphate dehydrogenase family.
  • In the C-terminal section; belongs to the glucosamine/galactosamine-6-phosphate isomerase family. 6-phosphogluconolactonase subfamily.
genes like me logo Genes that share domains with H6PD: view

No data available for Gene Families for H6PD Gene

Function for H6PD Gene

Molecular function for H6PD Gene

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

Enzyme Numbers (IUBMB) for H6PD Gene

Gene Ontology (GO) - Molecular Function for H6PD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004345 glucose-6-phosphate dehydrogenase activity IEA --
GO:0017057 6-phosphogluconolactonase activity IEA --
GO:0030246 carbohydrate binding --
GO:0047936 glucose 1-dehydrogenase [NAD(P)] activity IEA --
GO:0050661 NADP binding IEA --
genes like me logo Genes that share ontologies with H6PD: view
genes like me logo Genes that share phenotypes with H6PD: view

Animal Models for H6PD Gene

MGI Knock Outs for H6PD:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for H6PD Gene

Localization for H6PD Gene

Subcellular locations from UniProtKB/Swiss-Prot for H6PD Gene

Endoplasmic reticulum lumen. Note=Microsomes, endoplasmic reticulum lumen.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for H6PD Gene COMPARTMENTS Subcellular localization image for H6PD gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 2
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for H6PD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005739 mitochondrion --
GO:0005788 endoplasmic reticulum lumen IEA --
GO:0043231 intracellular membrane-bounded organelle --
genes like me logo Genes that share ontologies with H6PD: view

Pathways & Interactions for H6PD Gene

genes like me logo Genes that share pathways with H6PD: view

Pathways by source for H6PD Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for H6PD Gene

Gene Ontology (GO) - Biological Process for H6PD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process --
GO:0006006 glucose metabolic process IEA --
GO:0006098 pentose-phosphate shunt IEA --
GO:0006739 NADP metabolic process --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with H6PD: view

No data available for SIGNOR curated interactions for H6PD Gene

Drugs & Compounds for H6PD Gene

(36) Drugs for H6PD Gene - From: NovoSeek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dopamine Approved Pharma Full agonist, Agonist 2814
Ethanol Approved Pharma 1708
Icodextrin Approved, Investigational Pharma 27
Iron Approved Pharma 957
leucovorin Approved Pharma 922

(66) Additional Compounds for H6PD Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
6-Phosphonoglucono-D-lactone
  • 6-(Dihydrogen phosphate)-(8CI)-D-Gluconic acid delta-lactone
  • 6-(Dihydrogen phosphate)-(9CI)-D-Gluconic acid delta-lactone
  • 6-(Dihydrogen phosphate)-D-Gluconic acid delta-lactone
  • 6-Pgdl
  • 6-Phospho-D-glucono-1,5-lactone
2641-81-8
Beta-D-Glucose 6-phosphate
  • beta-D-Glucose 6-(dihydrogen phosphate)
  • beta-D-Glucose 6-phosphate
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
genes like me logo Genes that share compounds with H6PD: view

Transcripts for H6PD Gene

Unigene Clusters for H6PD Gene

Hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for H6PD Gene

No ASD Table

Relevant External Links for H6PD Gene

GeneLoc Exon Structure for
H6PD
ECgene alternative splicing isoforms for
H6PD

Expression for H6PD Gene

mRNA expression in normal human tissues for H6PD Gene

mRNA differential expression in normal tissues according to GTEx for H6PD Gene

This gene is overexpressed in Liver (x5.4).

Protein differential expression in normal tissues from HIPED for H6PD Gene

This gene is overexpressed in Liver (8.3), Ovary (6.0), and Serum (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for H6PD Gene



SOURCE GeneReport for Unigene cluster for H6PD Gene Hs.463511

mRNA Expression by UniProt/SwissProt for H6PD Gene

O95479-G6PE_HUMAN
Tissue specificity: Present in most tissues examined, strongest in liver
genes like me logo Genes that share expression patterns with H6PD: view

Protein tissue co-expression partners for H6PD Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for H6PD Gene

Orthologs for H6PD Gene

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

Orthologs for H6PD Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia H6PD 35
  • 86.84 (n)
  • 84.99 (a)
H6PD 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia H6pd 35
  • 83.8 (n)
  • 83.63 (a)
H6pd 16
H6pd 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia H6PD 35
  • 99.09 (n)
  • 98.88 (a)
H6PD 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia H6pd 35
  • 83.33 (n)
  • 83.08 (a)
cow
(Bos Taurus)
Mammalia H6PD 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia H6PD 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 70 (a)
OneToMany
-- 36
  • 81 (a)
OneToMany
-- 36
  • 77 (a)
OneToMany
chicken
(Gallus gallus)
Aves H6PD 35
  • 70.61 (n)
  • 69.85 (a)
H6PD 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia H6PD 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia h6pd 35
  • 60.2 (n)
  • 60.59 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30186 35
zebrafish
(Danio rerio)
Actinopterygii h6pd 35
  • 56.51 (n)
  • 53.91 (a)
h6pd 36
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7140 36
  • 23 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ZWF1 36
  • 28 (a)
OneToMany
Species with no ortholog for H6PD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for H6PD Gene

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

Paralogs for H6PD Gene

Paralogs for H6PD Gene

(2) SIMAP similar genes for H6PD Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with H6PD: view

Variants for H6PD Gene

Sequence variations from dbSNP and Humsavar for H6PD Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs12314 -- 9,267,890(+) TCTTA(A/C)CCTTA utr-variant-3-prime
rs731183 -- 9,263,398(-) GGAAG(C/G)CCCTC intron-variant
rs732950 -- 9,249,687(-) ACAGG(A/C)TGCAA intron-variant
rs743972 -- 9,261,503(+) CTTCC(C/G)ACTTT intron-variant
rs763179 -- 9,263,070(-) GTCAG(A/G)GGTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for H6PD Gene

Variant ID Type Subtype PubMed ID
nsv832092 CNV Loss 17160897
nsv871755 CNV Loss 21882294
esv2743563 CNV Deletion 23290073
dgv2e55 CNV Gain 17911159
esv23318 CNV Loss 19812545
dgv131n71 CNV Gain 21882294
dgv3n27 CNV Gain 19166990
nsv520191 CNV Gain 19592680
esv2750845 CNV Gain 17911159

Variation tolerance for H6PD Gene

Residual Variation Intolerance Score: 98.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.66; 89.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for H6PD Gene

HapMap Linkage Disequilibrium report
H6PD
Human Gene Mutation Database (HGMD)
H6PD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for H6PD Gene

Disorders for H6PD Gene

MalaCards: The human disease database

(9) MalaCards diseases for H6PD Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
cortisone reductase deficiency 1
  • cortisone reductase deficiency
hyperandrogenism due to cortisone reductase deficiency
  • 11-beta-hydroxysteroid dehydrogenase deficiency type 1
cortisone reductase deficiency
  • 11-alpha beta-hydroxysteroid dehydrogenase type i deficiency of
parotitis
  • mumps
lymphosarcoma
  • malignant lymphoma
- elite association
Search H6PD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

G6PE_HUMAN
  • 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). {ECO:0000269 PubMed:12858176, ECO:0000269 PubMed:23132696}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for H6PD

Genetic Association Database (GAD)
H6PD
Human Genome Epidemiology (HuGE) Navigator
H6PD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
H6PD
genes like me logo Genes that share disorders with H6PD: view

No data available for Genatlas for H6PD Gene

Publications for H6PD Gene

  1. Coimmobilization of dehydrogenases and their cofactors in electrochemical biosensors. (PMID: 17298031) Zhang M. … Gorski W. (Anal. Chem. 2007) 23 25 67
  2. Human hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) encoded at 1p36: coding sequence and expression. (PMID: 10349511) Mason P.J. … Vulliamy T.J. (Blood Cells Mol. Dis. 1999) 2 23 67
  3. Hexose-6-phosphate dehydrogenase in the endoplasmic reticulum. (PMID: 19804362) Senesi S. … Benedetti A. (Biol. Chem. 2010) 23 67
  4. Hexose-6-phosphate dehydrogenase: a new risk gene for multiple sclerosis. (PMID: 19935835) Alcina A. … Matesanz F. (Eur. J. Hum. Genet. 2010) 23 67
  5. The prognostic IDH1( R132 ) mutation is associated with reduced NADP+-dependent IDH activity in glioblastoma. (PMID: 20127344) Bleeker F.E. … Van Noorden C.J. (Acta Neuropathol. 2010) 23 67

Products for H6PD Gene

Sources for H6PD Gene

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