PFKL Gene Summary [Human]
This gene encodes the liver (L) subunit of an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | PFKL |
| Official Name | phosphofructokinase, liver type [Source:HGNC Symbol;Acc:HGNC:8876] |
| Ensembl ID | ENSG00000141959 |
| Bio databases IDs | |
| Aliases | phosphofructokinase, liver type |
| Synonyms | ATP-PFK, IPI00220617, LOC102548202, Pfk1, PFK2, PFK-B, phosphofructokinase, liver, B-type, phosphofructokinase, liver type |
| 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 PFKL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- 6-phosphofructokinase, eukaryotic type
- kinase binding
- binding protein
- monosaccharide binding
- 6-phosphofructokinase
- fructose-2,6-bisphosphate 2-phosphatase
- ATP binding
- protein binding
- PFK
- identical protein binding
- phosphofructokinase
Pathways
Biological processes and signaling networks where the PFKL 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
- insulin-dependent diabetes mellitus
- Down syndrome
- alveolar rhabdomyosarcoma
- soft tissue sarcoma cancer
- limited systemic sclerosis
- concentric hypertrophic cardiomyopathy
- diffuse cutaneous systemic sclerosis
- infection by HIV-1
role in cell
- proliferation
- migration
- expression in
- invasion by
- glycolysis in
- ubiquitination 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
- detergent-insoluble fractions
- secretory granule lumen
- ficolin-1-rich granule lumen
- Extracellular Space
- cytosol
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PFKL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to glucose stimulus
- glycolysis
- fructose 6-phosphate metabolic process
- negative regulation of insulin secretion
- fructose 1,6-bisphosphate metabolic process
Cellular Component
Where in the cell the gene product is active
- 6-phosphofructokinase complex
- extracellular vesicular exosome
- membrane
- cytosol
- secretory granule lumen
- extracellular region
Molecular Function
What the gene product does at the molecular level
- ATP binding
- fructose binding
- identical protein binding
- protein binding
- fructose-6-phosphate binding
- AMP binding
- metal ion binding
- monosaccharide binding
- kinase binding
- 6-phosphofructokinase activity