Gene
pklr
- ID
- ZDB-GENE-010907-1
- Name
- pyruvate kinase L/R
- Symbol
- pklr Nomenclature History
- Previous Names
-
- wu:fd15e01
- wu:fi37e08
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable several functions, including ATP binding activity; metal ion binding activity; and pyruvate kinase activity. Acts upstream of or within liver development. Is expressed in digestive system; female organism; heart; male organism; and muscle. Human ortholog(s) of this gene implicated in Gaucher's disease; congenital nonspherocytic hemolytic anemia; malaria; pyruvate kinase deficiency of red cells; and type 2 diabetes mellitus. Orthologous to human PKLR (pyruvate kinase L/R).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 23 figures from 18 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| congenital nonspherocytic hemolytic anemia 2 | Alliance | Anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient | 266200 |
| [Adenosine triphosphate, elevated, of erythrocytes] | 102900 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR018209 | Pyruvate kinase, active site |
| Domain | IPR015793 | Pyruvate kinase, barrel |
| Domain | IPR015795 | Pyruvate kinase, C-terminal |
| Family | IPR001697 | Pyruvate kinase |
| Homologous_superfamily | IPR011037 | Pyruvate kinase-like, insert domain superfamily |
| Homologous_superfamily | IPR015806 | Pyruvate kinase, insert domain superfamily |
| Homologous_superfamily | IPR015813 | Pyruvate/Phosphoenolpyruvate kinase-like domain superfamily |
| Homologous_superfamily | IPR036918 | Pyruvate kinase, C-terminal domain superfamily |
| Homologous_superfamily | IPR040442 | Pyruvate kinase-like domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Pyruvate kinase | Pyruvate kinase, active site | Pyruvate kinase, barrel | Pyruvate kinase, C-terminal | Pyruvate kinase, C-terminal domain superfamily | Pyruvate kinase, insert domain superfamily | Pyruvate kinase-like domain superfamily | Pyruvate kinase-like, insert domain superfamily | Pyruvate/Phosphoenolpyruvate kinase-like domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q7SXK3 | InterPro | 538 | |||||||||
| UniProtKB:A0A8M9NZ14 | InterPro | 527 | |||||||||
| UniProtKB:A0AB32T4X3 | InterPro | 469 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available