G6PC3 Gene Summary [Human]
This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Details
| Type | Protein Coding |
| Official Symbol | G6PC3 |
| Official Name | glucose-6-phosphatase catalytic subunit 3 [Source:HGNC Symbol;Acc:HGNC:24861] |
| Ensembl ID | ENSG00000141349 |
| Bio databases IDs | |
| Aliases | glucose-6-phosphatase catalytic subunit 3 |
| Synonyms | 0710001K01RIK, G6Pase-beta, G6Pase-β, GLUCOSE-6-PHOSPHATASE, glucose 6 phosphatase, catalytic, 3, glucose-6-phosphatase catalytic subunit 3, LOC303565, SCN4, UGRP |
| 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 G6PC3 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
- phosphatase
- PAP2_like
- glucose-6-phosphatase
Pathways
Biological processes and signaling networks where the G6PC3 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
- neutropenia
- autosomal recessive severe congenital neutropenia type 4
- severe congenital neutropenia
- multiple sclerosis
- growth failure
- chronic lymphocytic leukemia
- Dursun syndrome
- infection by bacteria
role in cell
- expression in
- accumulation in
- number
- phosphorylation in
- activation in
- apoptosis
- production in
- function
- trafficking
- gluconeogenesis 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
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human G6PC3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- gluconeogenesis
- glucose 6-phosphate metabolic process
- glucose-6-phosphate transport
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- glucose-6-phosphatase activity