Gene
pfkma
- ID
- ZDB-GENE-040912-135
- Name
- phosphofructokinase, muscle a
- Symbol
- pfkma Nomenclature History
- Previous Names
-
- pfkm (1)
- wu:fc58g11
- zgc:92344
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to have several functions, including 6-phosphofructokinase activity; adenyl ribonucleotide binding activity; and fructose-6-phosphate binding activity. Predicted to be involved in several processes, including canonical glycolysis; fructose 1,6-bisphosphate metabolic process; and protein homotetramerization. Predicted to localize to 6-phosphofructokinase complex and membrane. Human ortholog(s) of this gene implicated in glycogen storage disease VII. Is expressed in male organism; musculature system; myotome; and pectoral fin musculature. Orthologous to human PFKM (phosphofructokinase, muscle).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 15 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7151834 (6 images)
- IMAGE:7147892 (8 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| glycogen storage disease VII | Alliance | Glycogen storage disease VII | 232800 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR015912 | Phosphofructokinase, conserved site |
| Domain | IPR000023 | Phosphofructokinase domain |
| Family | IPR009161 | ATP-dependent 6-phosphofructokinase, eukaryotic-type |
| Family | IPR022953 | ATP-dependent 6-phosphofructokinase |
| Family | IPR041914 | ATP-dependent 6-phosphofructokinase, vertebrate-type |
| Homologous_superfamily | IPR035966 | Phosphofructokinase superfamily |
Domain Details Per Protein
| Protein | Length | ATP-dependent 6-phosphofructokinase | ATP-dependent 6-phosphofructokinase, eukaryotic-type | ATP-dependent 6-phosphofructokinase, vertebrate-type | Phosphofructokinase, conserved site | Phosphofructokinase domain | Phosphofructokinase superfamily |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q66HV8
|
784 |
Interactions and Pathways
No data available
Plasmids
No data available