G6PD - glucose-6-phosphate dehydrogenase Gene
Also Known as G6PD1
Species: Homo sapiens
About G6PD
This gene has 24 transcripts (splice variants), 260 orthologues, 1 paralogue and is associated with 4 phenotypes. Broad expression in testis (RPKM 38.1), bone marrow (RPKM 27.2) and 23 other tissues.
Summary
This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
G6PD Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_000402.4 | NP_000393.4 | glucose-6-phosphate 1-dehydrogenase isoform a |
| NM_001042351.3 | NP_001035810.1 | glucose-6-phosphate 1-dehydrogenase isoform b |
| NM_001360016.2 | NP_001346945.1 | glucose-6-phosphate 1-dehydrogenase isoform b |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables D-glucose binding |
IDA
IDA: Inferred from direct assay
|
15858258 | GOA |
| enables D-glucose binding |
IMP
IMP: Inferred from mutant phenotype
|
5643703 | GOA |
| enables NADP binding |
IDA
IDA: Inferred from direct assay
|
15858258 | GOA |
| enables glucose-6-phosphate dehydrogenase activity |
IDA
IDA: Inferred from direct assay
|
15858258 | GOA |
| enables glucose-6-phosphate dehydrogenase activity |
IMP
IMP: Inferred from mutant phenotype
|
743300 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
24769394 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
21157431 | GOA |
| enables protein homodimerization activity |
IPI
IPI: Inferred from physical interaction
|
15858258 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasmic side of plasma membrane |
IDA
IDA: Inferred from direct assay
|
743300 | GOA |
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
743300 | GOA |
G6PD Protein Structure
G6PD_N: Glucose-6-phosphate dehydrogenase, NAD binding domain (35 - 210)
G6PD_C: Glucose-6-phosphate dehydrogenase, C-terminal domain (212 - 504)
- 0
- 100
- 200
- 300
- 400
- 515 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
glucose-6-phosphate 1-dehydrogenase |
|
G6PD Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
G6PD | P11413 | HSPB1 | Homo sapiens | P04792 | 21157431 | |
|
Intra
|
G6PD | P11413 | G6PD | Homo sapiens | P11413 | 25416956 | |
|
Intra
|
G6PD | P11413 | SIRT2 | Homo sapiens | Q8IXJ6 | 24769394 | |
|
Intra
|
G6PD | P11413 | H1-2 | Homo sapiens | P16403 | 30021884 | |
|
Intra
|
G6PD | P11413 | G6PD | Homo sapiens | P11413 | 24769394 |
Recombinant G6PD Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P70283 | G6PD Protein, Human (HEK293, His) | P11413-1 (A2-L515) | ≥ 95%, as determined by reducing SDS-PAGE. |
G6PD Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80494 | Glucose Transporter GLUT1 Antibody (YA410) | WB, ICC/IF, IHC-P, FC | Human, Mouse |
| HY-P80688 | Glucose 6 Phosphate Dehydrogenase Antibody (YA411) | WB, IHC-P, ICC/IF, IP, FC | Human, Mouse, Rat |
| HY-P80688A | Glucose 6 Phosphate Dehydrogenase Antibody (YA411)(PBS only) | WB, IHC-P, IP | Human, Rat |
| HY-P810629 | Glucose 6 Phosphate Dehydrogenase Antibody (YA9891) | WB, ICC/IF, IHC-P, FC | Human |
| HY-P84063 | Glucose 6 Phosphate Dehydrogenase Antibody (YA3760) | WB, IHC-P, FC, ELISA | Human, Mouse, Rabbit |
| HY-P84063A | Glucose 6 Phosphate Dehydrogenase Antibody (YA3760)(PBS only) | WB, IHC-P, FC, ELISA | Human, Mouse, Rabbit |
| HY-P85177 | Glucose 6 Phosphate Dehydrogenase Antibody (YA4869) | WB, IHC-P, ICC/IF, FC, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency |
|
|
| Malaria |
|
|
| Glucosephosphate Dehydrogenase Deficiency |
|
|
| Congenital Hemolytic Anemia |
|
|
| Neonatal Jaundice |
|
|
| Blackwater Fever |
|
|
| Plasmodium Vivax Malaria |
|
|
| Kernicterus |
|
|
| Hemolytic Anemia |
|
|
| Blood Group Incompatibility |
|
|
| Methemoglobinemia |
|
|
| Plasmodium Falciparum Malaria |
|
|
| Pyruvate Kinase Deficiency Of Red Cells |
|
|
| Senile Cataract |
|
|
| Acquired Methemoglobinemia |
|
|
| Color Blindness |
|
|
| Congenital Nonspherocytic Hemolytic Anemia |
|
|
| 6-Phosphogluconate Dehydrogenase Deficiency |
|
|
| Alpha-Thalassemia |
|
|
| Plasmodium Ovale Malaria |
|
|
| Gilbert Syndrome |
|
|
| Deficiency Anemia |
|
|
| Thalassemia |
|
|
| Phenylketonuria |
|
|
| Sickle Cell Anemia |
|
|
| Glutathione Synthetase Deficiency |
|
|
| Galactosemia I |
|
|
| Cutaneous Leishmaniasis |
|
|
| Hemoglobinopathy |
|
|
| Beta-Thalassemia |
|
|
| Microcytic Anemia |
|
|
| Sickle Cell Disease |
|
|
| Hemoglobinuria |
|
|
| Bilirubin Metabolic Disorder |
|
|
| Hereditary Elliptocytosis |
|
|
| Iron Deficiency Anemia |
|
|
| Diabetic Cataract |
|
|
| Hereditary Spherocytosis |
|
|
| Chronic Granulomatous Disease |
|
|
| Viral Hepatitis |
|
|
| Anemia, Autoimmune Hemolytic |
|
|
| Parotitis |
|
|
| Cardiac Arrest |
|
|
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
|
| Boutonneuse Fever |
|
|
| Rh Isoimmunization |
|
|
| Pericarditis |
|
|
| Hepatitis A |
|
|
| Pigmentation Disease |
|
|
| Toxoplasmosis |
|
|
| Trimethoprim Allergy |
|
|
| Paroxysmal Nocturnal Hemoglobinuria |
|
|
| Iron Metabolism Disease |
|
|
| Sulfonamide Allergy |
|
|
| Parasitic Protozoa Infectious Disease |
|
|
| Cataract |
|
|
| Asbestosis |
|
|
| Congenital Hypothyroidism |
|
|
| Heart Disease |
|
|
| Hydrops Of Gallbladder |
|
|
| Holoprosencephaly 1 |
|
|
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
|
| Gallbladder Melanoma |
|
|
| Respiratory Failure |
|
|
| Diabetes Mellitus |
|
|
| Leukemia, Chronic Myeloid |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | G6PD | VGNC | VGNC:29181 |
| Mus musculus | G6PD | MGD | MGI:105979 |
| Macaca mulatta | G6PD | VGNC | VGNC:72840 |
| Rattus norvegicus | G6PD | RGD | RGD:2645 |
| Canis familiaris | G6PD | VGNC | VGNC:41043 |
| Others | G6PD | NCBI |