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H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) [ Mus musculus (house mouse) ]

Gene ID: 100198, updated on 9-May-2024

Summary

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Official Symbol
H6pdprovided by MGI
Official Full Name
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)provided by MGI
Primary source
MGI:MGI:2140356
See related
Ensembl:ENSMUSG00000028980 AllianceGenome:MGI:2140356
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Gpd1; G6pd1; Gpd-1
Summary
Enables 6-phosphogluconolactonase activity and glucose-6-phosphate dehydrogenase activity. Involved in regulation of cortisol biosynthetic process. Acts upstream of or within pentose-phosphate shunt. Located in sarcoplasmic reticulum. Is expressed in alimentary system; cranium; facial bone primordium; liver; and tooth. Human ortholog(s) of this gene implicated in cortisone reductase deficiency; cortisone reductase deficiency 1; and multiple sclerosis. Orthologous to human H6PD (hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in liver adult (RPKM 57.6), lung adult (RPKM 52.4) and 20 other tissues See more
Orthologs
human all
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Genomic context

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Location:
4 E2; 4 80.65 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (150063931..150093480, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (149979474..150009023, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:149230571-149230822 Neighboring gene predicted gene, 54270 Neighboring gene STARR-seq mESC enhancer starr_12128 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:149250416-149250525 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:149254138-149254291 Neighboring gene STARR-seq mESC enhancer starr_12129 Neighboring gene STARR-seq mESC enhancer starr_12130 Neighboring gene splA/ryanodine receptor domain and SOCS box containing 1 Neighboring gene predicted gene 13070 Neighboring gene STARR-seq mESC enhancer starr_12131 Neighboring gene STARR-positive B cell enhancer ABC_E3556 Neighboring gene STARR-positive B cell enhancer ABC_E4732 Neighboring gene STARR-positive B cell enhancer mm9_chr4:149363044-149363345 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:149365064-149365305 Neighboring gene STARR-seq mESC enhancer starr_12133 Neighboring gene predicted gene 13067 Neighboring gene STARR-seq mESC enhancer starr_12135 Neighboring gene STARR-positive B cell enhancer ABC_E6286 Neighboring gene microRNA 34a

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Lack of adipose-specific hexose-6-phosphate dehydrogenase causes inactivation of adipose glucocorticoids and improves metabolic phenotype in mice. Wang J, et al. Clin Sci (Lond), 2019 Nov 15. PMID 31696216, Free PMC Article
  2. Neuroprotection by glucose-6-phosphate dehydrogenase and the pentose phosphate pathway. Tang BL. J Cell Biochem, 2019 Sep. PMID 31127649
  3. Enhanced hexose-6-phosphate dehydrogenase expression in adipose tissue may contribute to diet-induced visceral adiposity. Liu L, et al. Int J Obes (Lond), 2018 Dec. PMID 29568102, Free PMC Article
  4. Cell-intrinsic regulation of murine dendritic cell function and survival by prereceptor amplification of glucocorticoid. Soulier A, et al. Blood, 2013 Nov 7. PMID 24081658
  5. Biochemistry and physiology of hexose-6-phosphate knockout mice. Zielinska AE, et al. Mol Cell Endocrinol, 2011 Apr 10. PMID 21146583

See all (94) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Neuroprotection by glucose-6-phosphate dehydrogenase and the pentose phosphate pathway.
    Title: Neuroprotection by glucose-6-phosphate dehydrogenase and the pentose phosphate pathway.
  2. reduction in adipose-specific H6PDH leads to reduced fat cell-specific production of glucocorticoids and decreased abdominal fat
    Title: Lack of adipose-specific hexose-6-phosphate dehydrogenase causes inactivation of adipose glucocorticoids and improves metabolic phenotype in mice.
  3. Studied expression levels and signal pathways involved with hexose-6-phosphate dehydrogenase in mouse model of diet induced visceral adiposity.
    Title: Enhanced hexose-6-phosphate dehydrogenase expression in adipose tissue may contribute to diet-induced visceral adiposity.
  4. We envisage these data and models finding utility when investigating the muscle-specific functions of the 11beta-HSD1/G6PT/H6PDH triad.
    Title: Cellular and genetic models of H6PDH and 11β-HSD1 function in skeletal muscle.
  5. Data suggest that Gh (growth hormone) represses H6pd through locally produced Igf1 (insulin-like growth factor 1); Gh directly represses Hsd11b1 (11-beta-hydroxysteroid dehydrogenase 1) mRNA rather than acting via Igf1 receptor.
    Title: Mechanism of repression of 11β-hydroxysteroid dehydrogenase type 1 by growth hormone in 3T3-L1 adipocytes.
  6. These results suggest that increased H6PDH expression specifically in adipose tissue is sufficient to cause intra-adipose glucocorticoid production and adverse metabolic phenotypes.
    Title: Transgenic overexpression of hexose-6-phosphate dehydrogenase in adipose tissue causes local glucocorticoid amplification and lipolysis in male mice.
  7. Findings suggest that increased hepatic H6PDH and G6PT production contribute to 11beta-HSD1 upregulation of local glucocorticoid action that may be related to the development of type 2 diabetes.
    Title: Tissue-specific dysregulation of hexose-6-phosphate dehydrogenase and glucose-6-phosphate transporter production in db/db mice as a model of type 2 diabetes.
  8. These data are consistent with an 11beta-HSD1-independent function for H6PDH in which sarcoplasmic reticulum G6P metabolism and NAD/NADH redox status are important for maintaining muscle homeostasis.
    Title: Hexose-6-phosphate dehydrogenase contributes to skeletal muscle homeostasis independent of 11β-hydroxysteroid dehydrogenase type 1.
  9. High-glucose-mediated decrease in G6PD activity may provide a mechanistic explanation for the gradual loss of beta cells in patients with diabetes.
    Title: High glucose inhibits glucose-6-phosphate dehydrogenase, leading to increased oxidative stress and beta-cell apoptosis.
  10. Data postulate that increased glycogen synthesis may reflect increased flux of glucose-6-phosphate (H6PDH substrate) through to glycogen in the absence of hexose-6-phosphate dehydrogenase mediated metabolism.
    Title: Hypoglycemia with enhanced hepatic glycogen synthesis in recombinant mice lacking hexose-6-phosphate dehydrogenase.
Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (4)  1 citation
  • Gene trapped (1) 
  • Endonuclease-mediated (2) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 6-phosphogluconolactonase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables NADP binding ISO
Inferred from Sequence Orthology
more info
  
enables carbohydrate binding ISO
Inferred from Sequence Orthology
more info
  
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
  
enables glucose 1-dehydrogenase [NAD(P)] 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 
enables glucose-6-phosphate dehydrogenase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables glucose-6-phosphate dehydrogenase activity ISO
Inferred from Sequence Orthology
more info
  
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity, acting on CH-OH group of donors IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in NADP metabolic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in glucose metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within pentose-phosphate shunt IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in pentose-phosphate shunt, oxidative branch IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in pentose-phosphate shunt, oxidative branch ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of cortisol biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of cortisol biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in endoplasmic reticulum IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in endoplasmic reticulum lumen ISO
Inferred from Sequence Orthology
more info
  
is_active_in sarcoplasmic reticulum IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
GDH/6PGL endoplasmic bifunctional protein
Names
glucose 1-dehydrogenase
glucose-6-phosphate dehydrogenase 1
NP_001277933.1
NP_775547.2
XP_006538521.1
XP_006538522.1
XP_006538525.1
XP_036019438.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001291004.1 → NP_001277933.1  GDH/6PGL endoplasmic bifunctional protein isoform 2 precursor

    See identical proteins and their annotated locations for NP_001277933.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK045199, AW109770, BB843483, BY149778
    Consensus CDS
    CCDS71524.1
    UniProtKB/Swiss-Prot
    A2A7A9, B2KGW7, Q8BLH1, Q8CFX1
    Related
    ENSMUSP00000081134.7, ENSMUST00000084117.13
    Conserved Domains (2) summary
    PTZ00309
    Location:23 → 502
    PTZ00309; glucose-6-phosphate 1-dehydrogenase; Provisional
    TIGR01198
    Location:554 → 789
    pgl; 6-phosphogluconolactonase

  2. NM_173371.4 → NP_775547.2  GDH/6PGL endoplasmic bifunctional protein isoform 1 precursor

    See identical proteins and their annotated locations for NP_775547.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK045199, AW109770
    Consensus CDS
    CCDS18967.1
    UniProtKB/TrEMBL
    A2A7A7
    Related
    ENSMUSP00000030830.4, ENSMUST00000030830.4
    Conserved Domains (4) summary
    COG0364
    Location:30 → 510
    Zwf; Glucose-6-phosphate 1-dehydrogenase [Carbohydrate transport and metabolism]
    TIGR01198
    Location:562 → 797
    pgl; 6-phosphogluconolactonase
    pfam00479
    Location:34 → 216
    G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain
    pfam02781
    Location:230 → 510
    G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    150063931..150093480 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006538458.4 → XP_006538521.1  GDH/6PGL endoplasmic bifunctional protein isoform X1

    See identical proteins and their annotated locations for XP_006538521.1

    Conserved Domains (2) summary
    PTZ00309
    Location:60 → 539
    PTZ00309; glucose-6-phosphate 1-dehydrogenase; Provisional
    TIGR01198
    Location:591 → 826
    pgl; 6-phosphogluconolactonase

  2. XM_036163545.1 → XP_036019438.1  GDH/6PGL endoplasmic bifunctional protein isoform X2

    UniProtKB/Swiss-Prot
    A2A7A9, B2KGW7, Q8BLH1, Q8CFX1
    Conserved Domains (2) summary
    PTZ00309
    Location:23 → 502
    PTZ00309; glucose-6-phosphate 1-dehydrogenase; Provisional
    TIGR01198
    Location:554 → 789
    pgl; 6-phosphogluconolactonase

  3. XM_006538459.5 → XP_006538522.1  GDH/6PGL endoplasmic bifunctional protein isoform X1

    See identical proteins and their annotated locations for XP_006538522.1

    Conserved Domains (2) summary
    PTZ00309
    Location:60 → 539
    PTZ00309; glucose-6-phosphate 1-dehydrogenase; Provisional
    TIGR01198
    Location:591 → 826
    pgl; 6-phosphogluconolactonase

  4. XM_006538462.4 → XP_006538525.1  GDH/6PGL endoplasmic bifunctional protein isoform X3

    Conserved Domains (2) summary
    TIGR01198
    Location:445 → 680
    pgl; 6-phosphogluconolactonase
    pfam02781
    Location:137 → 393
    G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8CFX1.2 GenPept UniProtKB/Swiss-Prot:Q8CFX1

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