H6pd
Gene Detail

Symbol Name ID

H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) MGI:2140356

Synonyms

G6pd1, Gpd1, Gpd-1

Feature Type

protein coding gene

Genetic Map

Chromosome 4

80.65 cM
Detailed Genetic Map ± 1 cM


Mapping data(95)

Sequence Map

Chr4:149979475-150009023 bp, - strand From VEGA annotation of GRCm38   29549 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:48275  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: H6pd

Human homologs

Human Homolog		H6PD, hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
NCBI Gene ID		9563
neXtProt AC		NX_O95479
Human Synonyms		CORTRD1, G6PDH, GDH
Human Chr (Location)		1p36; chr1:9294863-9331396 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human H6PD

Alleles and phenotypes

All alleles(16) : Targeted(3) Gene trapped(13)
 

Mice homozygous for a knock-out allele show enlarged adrenal glands, reduced plasma corticosterone levels and altered 11 beta-hydroxysteroid dehydrogenase type 1 enzyme activity. Treatment with 11-dehydrocorticosterone fails to inhibit glucose-stimulated insulin secretion in pancreatic islets.

 

Gene Ontology (GO) classifications

All GO classifications: (20 annotations)

Process	carbohydrate metabolic process, glucose metabolic process, ...
Component	cytoplasm, endoplasmic reticulum, ...
Function	6-phosphogluconolactonase activity, carbohydrate binding, ...

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (118)    Tissues (109)    Images (5)
Theiler Stages: 22, 23

Assay Type	Results
RNA in situ	118

cDNA source data(93)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(94) cDNA(93) Primer pair(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000010275 (Evidence)
Ensembl Gene Model	ENSMUSG00000028980 (Evidence)
Entrez Gene	100198 (Evidence)
UniGene	22183
DFCI	TC1574811, TC1605844
DoTS	DT.101279091, DT.493574, DT.94236797
NIA Mouse Gene Index	U025814, U109864
EC	1.1.1.47, 3.1.1.31
Consensus CDS Project	CCDS18967.1
International Mouse Knockout Project Status	H6pd

Sequences

Length	Strain/Species
genomic	OTTMUSG00000010275	VEGA Gene Model | MGI Sequence Detail	29549	C57BL/6J
transcript	OTTMUST00000023908	VEGA | MGI Sequence Detail	4745	Not Applicable
polypeptide	OTTMUSP00000010964	VEGA | MGI Sequence Detail	797	Not Applicable

All sequences(49) RefSeq(2) UniProt(6)

Polymorphisms

SNPs(156 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR005900	6-phosphogluconolactonase, DevB-type
InterPro	IPR006148	Glucosamine/galactosamine-6-phosphate isomerase
InterPro	IPR001282	Glucose-6-phosphate dehydrogenase
InterPro	IPR019796	Glucose-6-phosphate dehydrogenase, active site
InterPro	IPR022675	Glucose-6-phosphate dehydrogenase, C-terminal
InterPro	IPR022674	Glucose-6-phosphate dehydrogenase, NAD-binding
InterPro	IPR016040	NAD(P)-binding domain
Protein Ontology	PR:000008426	GDH/6PGL endoplasmic bifunctional protein

References

(Earliest) J:5135 Hutton JJ, et al., Linkage analyses using biochemical variants in mice. II. Levulinate dehydratase and autosomal glucose 6-phosphate dehydrogenase. Biochem Genet. 1969 Oct;3(5):517-23
(Latest) J:189132 Semjonous NM, et al., Hexose-6-phosphate dehydrogenase contributes to skeletal muscle homeostasis independent of 11beta-hydroxysteroid dehydrogenase type 1. Endocrinology. 2011 Jan;152(1):93-102
All references(111)

Other accession IDs

MGD-MRK-10221, MGD-MRK-10223, MGD-MRK-33658, MGI:105978