About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:149979475-150009023 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 80.65 cM
  • Mapping Data
    95 experiments
Strain
Comparison
more
  • SNPs within 2kb
    192 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2140356
 protein coding gene Chr4:149979474-150009023 (-)
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 (-)



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, H6PDH
  • Links
    NCBI Gene ID: 9563
    neXtProt AC: NX_O95479
    UniProt: O95479

  • Chr Location
    1p36.22; chr1:9234767-9271337 (+)  GRCh38.p7
  • HomoloGene
    Vertebrate Homology Class 48275
    1 human;1 mouse;1 rat;1 chimpanzee;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: H6PD
  • Gene Tree
    H6pd
Human Diseases
more
  • Diseases
    1 with human H6PD associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 2 alleles in 3 genetic backgrounds
    10 phenotypes from multigenic genotypes
    18 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    28
  • GO References
    8
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
    95
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    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  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 96
      cDNA 95
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10221, MGD-MRK-10223, MGD-MRK-33658, MGI:105978
    References
    more
    • Summaries
      All 117
      Developmental Gene Expression 4
      Gene Ontology 8
      Phenotypes 18
    • 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:265005 Zielinska AE, et al., Cellular and genetic models of H6PDH and 11beta-HSD1 function in skeletal muscle. Cell Biochem Funct. 2017 Jul;35(5):269-277
    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 & Copyright Notice
    Send questions and comments to User Support.     		last database update
    01/14/2020
    MGI 6.14     		The Jackson Laboratory