G6PC1 - glucose-6-phosphatase catalytic subunit 1 Gene
Also Known as G6PC; G6PT; GSD1; GSD1a; G6Pase
Species: Homo sapiens
About G6PC1
This gene has 4 transcripts (splice variants), 254 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in liver (RPKM 48.0), kidney (RPKM 22.9) and 2 other tissues.
Summary
Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]
G6PC1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_000151.4 | NP_000142.2 | glucose-6-phosphatase catalytic subunit 1 isoform 1 |
| NM_001270397.2 | NP_001257326.1 | glucose-6-phosphatase catalytic subunit 1 isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables glucose-6-phosphatase activity |
EXP
EXP: Inferred from Experiment
|
12093795 | GOA |
| enables glucose-6-phosphatase activity |
IDA
IDA: Inferred from direct assay
|
8211187 | GOA |
| enables phosphate ion binding |
IMP
IMP: Inferred from mutant phenotype
|
12093795 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32814053 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in gluconeogenesis |
IMP
IMP: Inferred from mutant phenotype
|
8211187 | GOA |
| involved in glucose homeostasis |
IMP
IMP: Inferred from mutant phenotype
|
8211187 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in membrane |
IDA
IDA: Inferred from direct assay
|
10318794 | GOA |
G6PC1 Protein Structure
PAP2: PAP2 superfamily (60 - 195)
- 0
- 100
- 200
- 300
- 357 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
glucose-6-phosphatase catalytic subunit 1 |
|
G6PC1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
G6PC1 | P35575 | RNF11 | Homo sapiens | Q9Y3C5 | 32814053 | |
|
Intra
|
G6PC1 | P35575 | RNF11 | Homo sapiens | Q9Y3C5 | 32814053 | |
|
Intra
|
G6PC1 | P35575 | RNF11 | Homo sapiens | Q9Y3C5 | 32814053 | |
|
Intra
|
G6PC1 | P35575 | WFS1 | Homo sapiens | O76024 | 32814053 | |
|
Intra
|
G6PC1 | P35575 | WFS1 | Homo sapiens | O76024 | 32814053 | |
|
Intra
|
G6PC1 | P35575 | WFS1 | Homo sapiens | O76024 | 32814053 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Glycogen Storage Disease Ia |
|
|
| Glycogen Storage Disease |
|
|
| Hypoglycemia |
|
|
| Hyperuricemia |
|
|
| Hepatocellular Adenoma |
|
|
| Glycogen Storage Disease Vi |
|
|
| Fanconi-Bickel Syndrome |
|
|
| Glycogen Storage Disease Iii |
|
|
| Hyperglycemia |
|
|
| Sudden Infant Death Syndrome |
|
|
| Severe Congenital Neutropenia 4 |
|
|
| Liver Benign Neoplasm |
|
|
| Neutropenia |
|
|
| Glycogen Storage Disease Iv |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Fructose-1,6-Bisphosphatase Deficiency |
|
|
| Insulinoma |
|
|
| Extragonadal Nonseminomatous Germ Cell Tumor |
|
|
| Diabetes Mellitus |
|
|
| Abdominal Obesity-Metabolic Syndrome 1 |
|
|
| Hemochromatosis, Type 1 |
|
|
| Hepatocellular Carcinoma |
|
|
| Intellectual Developmental Disorder, X-Linked 108 |
|
|
| Severe Congenital Neutropenia |
|
|
| Lactic Acidosis |
|
|
| Lipid Metabolism Disorder |
|
|
| Maturity-Onset Diabetes Of The Young |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | G6PC1 | RGD | RGD:2644 |
| Macaca mulatta | G6PC1 | VGNC | VGNC:72839 |
| Canis familiaris | G6PC1 | VGNC | VGNC:41040 |
| Felis catus | G6PC1 | VGNC | VGNC:99060 |
| Mus musculus | G6PC1 | MGD | MGI:95607 |
| Bos taurus | G6PC1 | VGNC | VGNC:29178 |
| Others | G6PC1 | NCBI |