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H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase [ Homo sapiens (human) ]

Gene ID: 9563, updated on 2-Nov-2024

Summary

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Official Symbol
H6PDprovided by HGNC
Official Full Name
hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenaseprovided by HGNC
Primary source
HGNC:HGNC:4795
See related
Ensembl:ENSG00000049239 MIM:138090; AllianceGenome:HGNC:4795
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
GDH; G6PDH; H6PDH; CORTRD1
Summary
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]
Expression
Ubiquitous expression in ovary (RPKM 12.8), skin (RPKM 11.6) and 25 other tissues See more
Orthologs
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Genomic context

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See H6PD in Genome Data Viewer
Location:
1p36.22
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (9234774..9271337)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (8769418..8805954)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (9294833..9331396)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr1:9211645-9211881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 120 Neighboring gene MIR34A host gene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9229591-9230092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9230093-9230592 Neighboring gene microRNA 34a Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9240951-9241812 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9241813-9242673 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9243535-9244395 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 214 Neighboring gene long non coding transcriptional activator of miR34a Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9258086-9258606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9275966-9276493 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 216 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9300874-9301539 Neighboring gene uncharacterized LOC124903836 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9308569-9309492 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9309493-9310416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9311341-9312263 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:9312526-9313085 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_9566 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 217 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9364927-9365774 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:9376867-9377040 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:9377645-9378844 Neighboring gene splA/ryanodine receptor domain and SOCS box containing 1 Neighboring gene Sharpr-MPRA regulatory region 3390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9410201-9410702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9410703-9411202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9412777-9413692 Neighboring gene VISTA enhancer hs1615 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9445249-9445882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9445883-9446516 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_9573 and experimental_9584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9459188-9460031 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9460032-9460874 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9460875-9461717 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9472665-9473598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9473599-9474530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9477117-9477617 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 125 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9487788-9488422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 127 Neighboring gene long intergenic non-protein coding RNA 2606

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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

Bibliography

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Related articles in PubMed

  1. Glucose regulates enzymatic sources of mitochondrial NADPH in skeletal muscle cells; a novel role for glucose-6-phosphate dehydrogenase. Mailloux RJ, et al. FASEB J, 2010 Jul. PMID 20228249
  2. An autosomal glucose-6-phosphate dehydrogenase (hexose-6-phosphate dehydrogenase) polymorphism in human saliva. Tan SG, et al. Hum Hered, 1976. PMID 950237
  3. Localization and characteristics of hexose 6-phosphate dehydrogenase (glucose dehydrogenase). Beutler E, et al. J Biol Chem, 1967 Nov 25. PMID 4169027
  4. G6PD in immature and mature human brain. Electrophoretic and enzyme kinetic studies. Toncheva D, et al. Hum Hered, 1982. PMID 7106784
  5. Human hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) encoded at 1p36: coding sequence and expression. Mason PJ, et al. Blood Cells Mol Dis, 1999 Feb. PMID 10349511

See all (62) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Tumor-suppressive microRNA-551b-3p targets H6PD to inhibit gallbladder cancer progression.
    Title: Tumor-suppressive microRNA-551b-3p targets H6PD to inhibit gallbladder cancer progression.
  2. Knockdown of H6PD resulted in an increase in ER lumen oxidation, and down-regulation of many components of the unfolded protein response, including the transcription factors activating transcription factor-4, activating transcription factor-6, split X-box binding protein-1, and CCAAT/enhancer binding protein homologous protein.
    Title: Hexose-6-phosphate dehydrogenase controls cancer cell proliferation and migration through pleiotropic effects on the unfolded-protein response, calcium homeostasis, and redox balance.
  3. Data indicate the tetramer as the most active form of glucose-6-phosphate dehydrogenase (G6PDH).
    Title: Mutations in the tetramer interface of human glucose-6-phosphate dehydrogenase reveals kinetic differences between oligomeric states.
  4. cortisol reduces glucose-6-phosphate (G6P) flux through H6PDH by increasing luminal NADPH, thereby allowing more G6P for hydrolysis via G6Pase
    Title: Cortisol promotes endoplasmic glucose production via pyridine nucleotide redox.
  5. Inhibition of glucose-6-phosphate dehydrogenase sensitizes cisplatin-resistant cells to death.
    Title: Inhibition of glucose-6-phosphate dehydrogenase sensitizes cisplatin-resistant cells to death.
  6. The G allele of rs6688832 in H6PD might exert potential genetic protective role against the development of PCOS, especially in overweight women. PCOS patients with AG genotype of rs6688832 might confer risk to the phenotype of hyperandrogenemia of PCOS.
    Title: Association Analysis between the Polymorphisms of HSD11B1 and H6PD and Risk of Polycystic Ovary Syndrome in Chinese Population.
  7. The aim of the work was to investigate the expression of HSD11B1, HSD11B2, H6PDH, and glucocorticoids receptor (GR) mRNA in subcutaneous adipose tissue (SAT) from obese women with or without polycystic ovary syndrome.
    Title: The expression of 11β-HSDs, GR, and H6PDH in subcutaneous adipose tissue from polycystic ovary syndrome subjects.
  8. Cytoplasmic Mg2+ regulates glucose 6-phosphate utilization by reticular H6PD.
    Title: Reduced cellular Mg²⁺ content enhances hexose 6-phosphate dehydrogenase activity and expression in HepG2 and HL-60 cells.
  9. GR and p300 are involved in the induction of H6PD by cortisol in human amnion fibroblasts
    Title: Involvement of GR and p300 in the induction of H6PD by cortisol in human amnion fibroblasts.
  10. Polymorphisms in the H6PD gene may not be associated with type 2 diabetes and the metabolic syndrome.
    Title: Relationship of 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase gene polymorphisms with metabolic syndrome and type 2 diabetes.
Submit: New GeneRIF Correction See all GeneRIFs (29)

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
Cortisone reductase deficiency 1
MedGen: C3551716 OMIM: 604931 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat 47-59 peptide upregulates gene expression of hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase; H6PD) in U-937 macrophages PubMed
Vif vif HIV-1 Vif downregulates the expression of hexose-6-phosphate dehydrogenase (H6PD, glucose 1-dehydrogenase) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

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

Clone Names

  • MGC87643, DKFZp686A01246

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 6-phosphogluconolactonase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables NADP binding IEA
Inferred from Electronic Annotation
more info
  
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
  
enables glucose 1-dehydrogenase (NAD+) activity IEA
Inferred from Electronic Annotation
more info
  
enables glucose 1-dehydrogenase (NADP+) activity IEA
Inferred from Electronic Annotation
more info
  
enables glucose-6-phosphate dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables glucose-6-phosphate dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in glucose metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in pentose-phosphate shunt, oxidative branch IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in pentose-phosphate shunt, oxidative branch IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of cortisol biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to alcohol IEA
Inferred from Electronic Annotation
more info
  
involved_in response to nutrient levels IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum lumen IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
GDH/6PGL endoplasmic bifunctional protein
Names
6-phosphogluconolactonase
G6PD, H form
glucose 1- dehydrogenase
glucose dehydrogenase
glucose dehyrogenase
glucose-6-phosphate dehydrogenase, salivary
NP_001269516.1
NP_004276.2
XP_005263597.1
XP_006711115.1
XP_016858354.1
XP_016858355.1
XP_047290958.1
XP_047290959.1
XP_047290961.1
XP_054195686.1
XP_054195687.1
XP_054195688.1
XP_054195689.1
XP_054195690.1

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.

Genomic

  1. NG_012218.1 RefSeqGene

    Range
    4971..41534
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282587.2 → NP_001269516.1  GDH/6PGL endoplasmic bifunctional protein isoform 1 precursor

    See identical proteins and their annotated locations for NP_001269516.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BM974986, Z98044
    Consensus CDS
    CCDS72697.1
    UniProtKB/TrEMBL
    R4GMU1
    Related
    ENSP00000473348.1, ENST00000602477.1
    Conserved Domains (4) summary
    COG0364
    Location:33 → 515
    Zwf; Glucose-6-phosphate 1-dehydrogenase [Carbohydrate transport and metabolism]
    TIGR01198
    Location:567 → 802
    pgl; 6-phosphogluconolactonase
    pfam00479
    Location:40 → 222
    G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain
    pfam02781
    Location:236 → 515
    G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain

  2. NM_004285.4 → NP_004276.2  GDH/6PGL endoplasmic bifunctional protein isoform 2 precursor

    See identical proteins and their annotated locations for NP_004276.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' most exon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AJ012590, BC081559, Z98044
    Consensus CDS
    CCDS101.1
    UniProtKB/Swiss-Prot
    O95479, Q4TT33, Q66I35, Q68DT3, R4GMU1
    Related
    ENSP00000366620.2, ENST00000377403.7
    Conserved Domains (4) summary
    COG0364
    Location:22 → 504
    Zwf; Glucose-6-phosphate 1-dehydrogenase [Carbohydrate transport and metabolism]
    TIGR01198
    Location:556 → 791
    pgl; 6-phosphogluconolactonase
    pfam00479
    Location:29 → 211
    G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain
    pfam02781
    Location:225 → 504
    G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    9234774..9271337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435002.1 → XP_047290958.1  GDH/6PGL endoplasmic bifunctional protein isoform X1

  2. XM_006711052.5 → XP_006711115.1  GDH/6PGL endoplasmic bifunctional protein isoform X4

    See identical proteins and their annotated locations for XP_006711115.1

    UniProtKB/Swiss-Prot
    O95479, Q4TT33, Q66I35, Q68DT3, R4GMU1
    Conserved Domains (4) summary
    COG0364
    Location:22 → 504
    Zwf; Glucose-6-phosphate 1-dehydrogenase [Carbohydrate transport and metabolism]
    TIGR01198
    Location:556 → 791
    pgl; 6-phosphogluconolactonase
    pfam00479
    Location:29 → 211
    G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain
    pfam02781
    Location:225 → 504
    G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain

  3. XM_017002865.3 → XP_016858354.1  GDH/6PGL endoplasmic bifunctional protein isoform X4

    UniProtKB/Swiss-Prot
    O95479, Q4TT33, Q66I35, Q68DT3, R4GMU1
    Conserved Domains (4) summary
    COG0364
    Location:22 → 504
    Zwf; Glucose-6-phosphate 1-dehydrogenase [Carbohydrate transport and metabolism]
    TIGR01198
    Location:556 → 791
    pgl; 6-phosphogluconolactonase
    pfam00479
    Location:29 → 211
    G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain
    pfam02781
    Location:225 → 504
    G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain

  4. XM_047435005.1 → XP_047290961.1  GDH/6PGL endoplasmic bifunctional protein isoform X4

    UniProtKB/Swiss-Prot
    O95479, Q4TT33, Q66I35, Q68DT3, R4GMU1

  5. XM_005263540.6 → XP_005263597.1  GDH/6PGL endoplasmic bifunctional protein isoform X2

    Conserved Domains (4) summary
    COG0364
    Location:31 → 513
    Zwf; Glucose-6-phosphate 1-dehydrogenase [Carbohydrate transport and metabolism]
    TIGR01198
    Location:565 → 800
    pgl; 6-phosphogluconolactonase
    pfam00479
    Location:38 → 220
    G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain
    pfam02781
    Location:234 → 513
    G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain

  6. XM_047435003.1 → XP_047290959.1  GDH/6PGL endoplasmic bifunctional protein isoform X3

  7. XM_017002866.3 → XP_016858355.1  GDH/6PGL endoplasmic bifunctional protein isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    8769418..8805954
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339711.1 → XP_054195686.1  GDH/6PGL endoplasmic bifunctional protein isoform X1

  2. XM_054339713.1 → XP_054195688.1  GDH/6PGL endoplasmic bifunctional protein isoform X4

  3. XM_054339714.1 → XP_054195689.1  GDH/6PGL endoplasmic bifunctional protein isoform X4

  4. XM_054339712.1 → XP_054195687.1  GDH/6PGL endoplasmic bifunctional protein isoform X2

  5. XM_054339715.1 → XP_054195690.1  GDH/6PGL endoplasmic bifunctional protein isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95479.2 GenPept UniProtKB/Swiss-Prot:O95479

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