G6PC1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | G6PC1 |
| Official Name | glucose-6-phosphatase catalytic subunit 1 [Source:HGNC Symbol;Acc:HGNC:4056] |
| Ensembl ID | ENSG00000131482 |
| Bio databases IDs | |
| Aliases | glucose-6-phosphatase catalytic subunit 1, glycogen storage disease type I, von Gierke disease |
| Synonyms | G6p, G6Pase, G6Pase-alpha, G6Pase-α, G6PC, G6ph, G6PT, Glc-6-Pase, Glc 6p Hydrolase, GLUCOSE-6-PHOSPHATASE, glucose-6-phosphatase catalytic subunit 1, GSD1, GSD1a, Psme3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human G6PC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Acid phosphatase homologues
- PAP2 superfamily
- alcohol group acceptor phosphotransferase
- phosphatase
- protein binding
- PAP2_like
- phosphate binding
- glucose-6-phosphatase
Pathways
Biological processes and signaling networks where the G6PC1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- obesity
- neutropenia
- glycogen storage disease type Ia
- hereditary disorder
- seizures
- carcinoma in situ
- epithelial cancer in situ
- glycogen storage disease
- Huntington disease
- diabetic nephropathy
role in cell
- production in
- expression in
- apoptosis
- accumulation in
- chemotaxis
- metabolism by
- gluconeogenesis in
- steroidogenesis in
- respiratory burst
- glycolysis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- nucleolar channel system
- cellular membrane
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- microsome
- rough microsomes
- phagosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human G6PC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- multicellular organism growth
- gluconeogenesis
- glucose-6-phosphate transport
- triglyceride metabolic process
- steroid metabolic process
- glycogen catabolic process
- cholesterol homeostasis
- urate metabolic process
- glucose 6-phosphate metabolic process
- glycogen metabolic process
- glucose homeostasis
- regulation of gene expression
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- phosphotransferase activity, alcohol group as acceptor
- phosphate ion binding
- glucose-6-phosphatase activity