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

Symbol

H6pd
Name

hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
Synonyms

G6pd1, Gpd-1, Gpd1

Feature Type

protein coding gene
IDs

MGI:2140356
NCBI Gene: 100198
Alliance

gene page
Transcription Start Sites

16 TSS

Sequence Map

Chr4:150063932-150093480 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 80.65 cM
Mapping Data

95 experiments

SNPs within 2kb

199 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2140356	protein coding gene	Chr4:150063931-150093480 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0029148	protein coding gene	Chr4:153901073-153931798 (-)
A/J	MGP_AJ_G0029113	protein coding gene	Chr4:147453031-147483183 (-)
AKR/J	MGP_AKRJ_G0029061	protein coding gene	Chr4:151504419-151536090 (-)
BALB/cJ	MGP_BALBcJ_G0029129	protein coding gene	Chr4:147952744-147982353 (-)
C3H/HeJ	MGP_C3HHeJ_G0028850	protein coding gene	Chr4:152039795-152070059 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0029578	protein coding gene	Chr4:159444512-159476908 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026824	protein coding gene	Chr4:139864453-139894657 (-)
CAST/EiJ	MGP_CASTEiJ_G0028263	protein coding gene	Chr4:149284402-149315695 (-)
CBA/J	MGP_CBAJ_G0028812	protein coding gene	Chr4:164127326-164159421 (-)
DBA/2J	MGP_DBA2J_G0028961	protein coding gene	Chr4:147550271-147580164 (-)
FVB/NJ	MGP_FVBNJ_G0028925	protein coding gene	Chr4:146671811-146702069 (-)
LP/J	MGP_LPJ_G0029051	protein coding gene	Chr4:153826081-153856816 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028952	protein coding gene	Chr4:167309136-167341672 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029610	protein coding gene	Chr4:152000624-152030503 (-)
PWK/PhJ	MGP_PWKPhJ_G0027983	protein coding gene	Chr4:143534772-143594170 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0027817	protein coding gene	Chr4:146253155-146283951 (-)
WSB/EiJ	MGP_WSBEiJ_G0028343	protein coding gene	Chr4:152142742-152174549 (-)

Human Ortholog

H6PD, hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

H6PD, hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
Synonyms

CORTRD1, G6PDH, GDH, H6PDH
Links

HGNC:4795

NCBI Gene ID: 9563

neXtProt AC: NX_O95479

UniProt: O95479
Chr Location

1p36.22; chr1:9234774-9271337 (+) GRCh38

MGI Vertebrate Homology

H6pd stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: H6PD
Gene Tree

H6pd

Diseases

3 with human H6PD associations

				Human Disease	Mouse Models
				cortisone reductase deficiency IDs cortisone reductase deficiency DOID:0090139 MESH:C536447 OMIM:PS604931
				cortisone reductase deficiency 1 IDs cortisone reductase deficiency 1 DOID:0090141 NCI:C131849 OMIM:604931
				multiple sclerosis IDs multiple sclerosis DOID:2377 ICD10CM:G35 ICD9CM:340 MESH:D009103 NCI:C3243 OMIM:612594 OMIM:612595 OMIM:612596 UMLS_CUI:C0026769

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

28 phenotypes from 3 alleles in 4 genetic backgrounds
10 phenotypes from multigenic genotypes
22 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

18
Endonuclease-mediated

2
Gene trapped

10
Targeted

6
Genomic Mutations

1 involving H6pd
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

60 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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. Conditional KO in adipocytes results in decreased fat weight and increased glucose tolerance and insulin sensitivity.

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All GO Annotations

25
GO References

10

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

830
Tissues

112
cDNA Data

95
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase h6pd

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All Sequences

65
RefSeq

12
UniProt

6
CCDS

CCDS18967.1, CCDS71524.1

Ensembl

ENSMUSG00000028980 (Evidence)
NCBI Gene

100198

			Length	Strain/Species	Flank
genomic	ENSMUSG00000028980	Ensembl Gene Model \| MGI Sequence Detail	29549	C57BL/6J	± kb
transcript	ENSMUST00000030830	Ensembl \| MGI Sequence Detail	4745	Not Applicable
polypeptide	ENSMUSP00000030830	Ensembl \| MGI Sequence Detail	797	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000008426 GDH/6PGL endoplasmic bifunctional protein

(term hierarchy)
EC

1.1.1.363, 1.1.1.47, 3.1.1.31
InterPro Domains

IPR039104 6-Phosphogluconolactonase

IPR005900 6-phosphogluconolactonase, DevB-type

IPR006148 Glucosamine/galactosamine-6-phosphate isomerase

IPR001282 Glucose-6-phosphate dehydrogenase

IPR019796 Glucose-6-phosphate dehydrogenase, active site

IPR022675 Glucose-6-phosphate dehydrogenase, C-terminal

IPR022674 Glucose-6-phosphate dehydrogenase, NAD-binding

IPR036291 NAD(P)-binding domain superfamily

IPR037171 NagB/RpiA transferase-like
GlyGen

Q8CFX1 6 sites, 3 N-linked glycans (1 site), 1 O-linked glycan (3 sites)

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All nucleic 97

cDNA 95

Primer pair 2

Microarray probesets 3

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

Summaries

All 124

Developmental Gene Expression 4

Gene Ontology 10

Phenotypes 22
Earliest

J:5091 Ruddle FH, et al., Autosomal control of an electrophoretic variant of glucose-6-phosphate dehydrogenase in the mouse (Mus musculus). Genetics. 1968 Apr;58(4):599-606
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for H6pd:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr44719	Chr4:150095446-150095457 (-)	-1,972 bp
Tssr44718	Chr4:150093987-150094005 (-)	-516 bp
Tssr44717	Chr4:150093434-150093543 (-)	-9 bp
Tssr44716	Chr4:150087624-150087651 (-)	5,842 bp
Tssr44715	Chr4:150087592-150087606 (-)	5,881 bp
Tssr44714	Chr4:150085858-150085893 (-)	7,604 bp
Tssr44713	Chr4:150085829-150085848 (-)	7,641 bp
Tssr44712	Chr4:150085807-150085817 (-)	7,668 bp
Tssr44711	Chr4:150085752-150085761 (-)	7,723 bp
Tssr44710	Chr4:150085688-150085702 (-)	7,785 bp
Tssr44709	Chr4:150084739-150084746 (-)	8,737 bp
Tssr44708	Chr4:150080887-150080902 (-)	12,585 bp
Tssr44707	Chr4:150080854-150080872 (-)	12,617 bp
Tssr44706	Chr4:150080817-150080840 (-)	12,651 bp
Tssr44705	Chr4:150080262-150080268 (-)	13,215 bp
Tssr44704	Chr4:150065396-150065413 (-)	28,075 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24