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H6pd Gene Detail
Summary
  • Symbol
    H6pd
  • Name
    hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
  • Synonyms
    G6pd1, Gpd1, Gpd-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2140356
    NCBI Gene: 100198
  • Gene Overview
    MyGene.info: H6PD
Location & Maps
more
  • Sequence Map
    Chr4:149979475-150009023 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      29549 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 80.65 cM
  • Mapping Data
    95 experiments
Homology
more
  • Human Ortholog
    H6PD, hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
  • Vertebrate Orthologs
    9
  • Human Ortholog
    H6PD, hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CORTRD1, G6PDH, GDH
  • Links
    NCBI Gene ID: 9563
    neXtProt AC: NX_O95479

  • Chr Location
    1p36; chr1:9234776-9271337 (+)  GRCh38.p2
  • HomoloGene
    Vertebrate Homology Class 48275
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: H6PD
  • Gene Tree
    H6pd
Human Diseases
more
  • Diseases
    1 with human H6PD associations

Human Disease Mouse Models
       Cortisone Reductase Deficiency 1; CORTRD1   OMIM: 604931
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    13 phenotypes from 2 alleles in 3 genetic backgrounds
    10 phenotypes from multigenic genotypes
    17 phenotype references
Phenotype Overview

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
    17
  • Gene trapped
    13
  • Targeted
    4
  • Genomic Mutations
    1 involving H6pd
  • Incidental Mutations
    Mutagenetix , APF
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-stimulatedinsulin secretion in pancreatic islets.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    21
  • GO References
    5
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

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
    118
  • Tissues
    109
  • cDNA Data
    94
  • Literature Summary
    2
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000010275 VEGA Gene Model | MGI Sequence Detail 29549 C57BL/6J ±  kb
transcript OTTMUST00000023908 VEGA | MGI Sequence Detail 4745 Not Applicable  
polypeptide OTTMUSP00000010964 VEGA | MGI Sequence Detail 797 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    192 from dbSNP Build 142
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000008426 GDH/6PGL endoplasmic bifunctional protein
  • EC
    1.1.1.47, 3.1.1.31
  • InterPro Domains
    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
    IPR016040 NAD(P)-binding domain
Molecular
Reagents
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  • All nucleic 95
    cDNA 94
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-10221, MGD-MRK-10223, MGD-MRK-33658, MGI:105978
References
more
  • Summaries
    All 108
    Developmental Gene Expression 2
    Gene Ontology 5
    Phenotypes 17
  • 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:204054 Soulier A, et al., Cell-intrinsic regulation of murine dendritic cell function and survival by prereceptor amplification of glucocorticoid. Blood. 2013 Nov 7;122(19):3288-97
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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Send questions and comments to User Support. 		last database update
09/13/2016
MGI 6.05 		The Jackson Laboratory