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

Summary

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

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_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Neuroprotection by glucose-6-phosphate dehydrogenase and the pentose phosphate pathway.
Title: Neuroprotection by glucose-6-phosphate dehydrogenase and the pentose phosphate pathway.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Gene trapped (1)
Targeted (4) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI785303 (e-PCR)
- UniSTS:179105

NoName (e-PCR)
- UniSTS:546813

H6pd (e-PCR), detects polymorphism
- UniSTS:546813

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

EC 1.1.1.363

EC 1.1.1.47

EC 3.1.1.31

NP_775547.2

EC 1.1.1.363

EC 1.1.1.47

EC 3.1.1.31

XP_006538521.1

EC 1.1.1.363

EC 1.1.1.47

EC 3.1.1.31

XP_006538522.1

EC 1.1.1.363

EC 1.1.1.47

EC 3.1.1.31

XP_006538525.1

EC 1.1.1.363

EC 1.1.1.47

EC 3.1.1.31

XP_036019438.1

EC 1.1.1.363

EC 1.1.1.47

EC 3.1.1.31

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)

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
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

NC_000070.7 Reference GRCm39 C57BL/6J

Range

150063931..150093480 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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