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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Pyruvate kinase PKLR
Summary
- UniProt ID
- P30613
- Gene Symbol
-
- PKLR
- PK1
- PKL
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- P30613
- PubChem
- P30613
- The Human Metabolome Database
- HMDBP00765
- The O-GlcNAc Database
- P30613
- RaftProt
- P30613
Annotation
- Keyword
-
- 3D-structure
- ATP-binding
- Allosteric enzyme
- Alternative splicing
- Disease variant
- Glycolysis
- Hereditary hemolytic anemia
- Kinase
- Magnesium
- Manganese
- Metal-binding
- Phosphoprotein
- Potassium
- Pyruvate
- Reference proteome
- Gene Ontology (GO)
| GO Term |
|---|
| response to cAMP |
| response to hypoxia |
| glycolytic process |
| response to nutrient |
| pyruvate biosynthetic process |
| response to ATP |
| phosphorylation |
| cellular response to insulin stimulus |
| response to glucose |
| response to metal ion |
| GO Term |
|---|
| cytosol |
| pyruvate kinase complex |
| cytoplasm |
| extracellular exosome |
| GO Term |
|---|
| kinase activity |
| monosaccharide binding |
| potassium ion binding |
| pyruvate kinase activity |
| magnesium ion binding |
| ATP binding |
Sequence
MSIQENISSLQLRSWVSKSQRDLAKSILIGAPGGPAGYLRRASVAQLTQELGTAFFQQQQLPAAMADTFLEHLCLLDIDSEPVAARSTSIIATIGPASRSVERLKEMIKAGMNIARLNFSHGSHEYHAESIANVREAVESFAGSPLSYRPVAIALDTKGPEIRTGILQGGPESEVELVKGSQVLVTVDPAFRTRGNANTVWVDYPNIVRVVPVGGRIYIDDGLISLVVQKIGPEGLVTQVENGGVLGSRKGVNLPGAQVDLPGLSEQDVRDLRFGVEHGVDIVFASFVRKASDVAAVRAALGPEGHGIKIISKIENHEGVKRFDEILEVSDGIMVARGDLGIEIPAEKVFLAQKMMIGRCNLAGKPVVCATQMLESMITKPRPTRAETSDVANAVLDGADCIMLSGETAKGNFPVEAVKMQHAIAREAEAAVYHRQLFEELRRAAPLSRDPTEVTAIGAVEAAFKCCAAAIIVLTTTGRSAQLLSRYRPRAAVIAVTRSAQAARQVHLCRGVFPLLYREPPEAIWADDVDRRVQFGIESGKLRGFLRVGDLVIVVTGWRPGSGYTNIMRVLSIS
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
|
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050548 | hereditary sensory neuropathy | |
| DOID:0060474 | familial erythrocytosis 2 | |
| DOID:0060652 | familial erythrocytosis 1 | |
| DOID:0070146 | hereditary sensory neuropathy type 4 | |
| DOID:0080199 | colorectal carcinoma | |
| DOID:0090053 | episodic kinesigenic dyskinesia 1 | |
| DOID:0111077 | pyruvate kinase deficiency of red cells | |
| DOID:0111441 | optic atrophy 1 | |
| DOID:10211 | cholelithiasis | |
| DOID:10241 | thalassemia |
