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

Also Known as GDH; G6PDH; H6PDH; CORTRD1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9563

About H6PD

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:9,234,774-9,271,337 (from NCBI)

This gene has 3 transcripts (splice variants), 198 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 12.8), skin (RPKM 11.6) and 25 other tissues.

Summary

There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with Other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008]

H6PD Products (2)

mRNA Protein Name
NM_001282587.2 NP_001269516.1 GDH/6PGL endoplasmic bifunctional protein isoform 1 precursor
NM_004285.4 NP_004276.2 GDH/6PGL endoplasmic bifunctional protein isoform 2 precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables glucose-6-phosphate dehydrogenase activity IDA
IDA: Inferred from direct assay
18628520 GOA
Biological Process GO Annotation Evidence References Source
involved in pentose-phosphate shunt, oxidative branch IMP
IMP: Inferred from mutant phenotype
18628520 GOA
involved in regulation of cortisol biosynthetic process IMP
IMP: Inferred from mutant phenotype
18628520 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum lumen IDA
IDA: Inferred from direct assay
18628520 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

H6PD Protein Structure

G6PD_N

G6PD_N: Glucose-6-phosphate dehydrogenase, NAD binding domain (29 - 211)

G6PD_C

G6PD_C: Glucose-6-phosphate dehydrogenase, C-terminal domain (223 - 383)

Glucosamine_iso

Glucosamine_iso: Glucosamine-6-phosphate isomerases/6-phosphogluconolactonase (563 - 756)

  • 0
  • 200
  • 400
  • 600
  • 791 a.a.
Protein Preferred Names Protein Names

GDH/6PGL endoplasmic bifunctional protein

  • 6-phosphogluconolactonase

Related Diseases

Diseases Alias
Cortisone Reductase Deficiency 1

  • CORTRD1

  • Cortisone Reductase Deficiency, Type 1
Cortisone Reductase Deficiency

  • 11-Alpha Beta-Hydroxysteroid Dehydrogenase Type I Deficiency Of

  • Cortrd

  • Hsd 11b1 Deficiency
Hyperandrogenism Due To Cortisone Reductase Deficiency

  • 11-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 1
Glucosephosphate Dehydrogenase Deficiency

  • G6pd Deficiency

  • Glucose-6-Phosphate Dehydrogenase Deficiency

  • Deficiency Of Glucose-6-Phosphate Dehydrogenase

  • Glucose 6 Phosphate Dehydrogenase Deficiency

  • Deficiency Of G-6pd

  • G6pdd
Parotitis
Scleromalacia Perforans
Type 2 Diabetes Mellitus

  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes
Diabetes Mellitus

  • Diabetes
Body Mass Index Quantitative Trait Locus 11

  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • Obesity , Susceptibility To

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Approval
  • Pre-clinical Phase

Approval

Bioactive Molecules (7)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-10617A Rucaparib Inhibitor 99.96% Yes
HY-10617 Rucaparib phosphate Inhibitor 99.76% Yes
HY-102003 Rucaparib monocamsylate Inhibitor 99.91% Yes
HY-102003A Rucaparib camsylate Inhibitor / Unkown
HY-10617C Rucaparib tartrate Inhibitor / Unkown
HY-10617B Rucaparib hydrochloride Inhibitor / Unkown
HY-10617D Rucaparib acetate Inhibitor / Unkown

Pre-clinical Phase

Bioactive Molecules (5)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-10617AS1 Rucaparib-d3 Inhibitor / Unkown
HY-RS05980 H6PD Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-10617AS Rucaparib-d8 Inhibitor / Unkown
HY-RS17126 H6pd Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS23571 H6pd Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta H6PD VGNC VGNC:73340
Rattus norvegicus H6PD RGD RGD:1306562
Mus musculus H6PD MGD MGI:2140356
Felis catus H6PD VGNC VGNC:67529
Canis familiaris H6PD VGNC VGNC:41579
Others H6PD NCBI