InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PKLR

Summary

InnateDB Protein

IDBP-245715.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PKLR

Protein Name

pyruvate kinase, liver and RBC

Synonyms

PK1; PKL; PKR; PKRL; RPK;

Species

Homo sapiens

Ensembl Protein

ENSP00000376214

InnateDB Gene

IDBG-103234 (PKLR)

Protein Structure

UniProt Annotation

Function

Plays a key role in glycolysis. {ECO:0000250}.

Subcellular Localization

Disease Associations

Pyruvate kinase hyperactivity (PKHYP) [MIM:102900]: Autosomal dominant phenotype characterized by increase of red blood cell ATP. {ECO:0000269PubMed:9090535}. Note=The disease is caused by mutations affecting the gene represented in this entry.Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]: A frequent cause of hereditary non-spherocytic hemolytic anemia. Clinically, pyruvate kinase-deficient patients suffer from a highly variable degree of chronic hemolysis, ranging from severe neonatal jaundice and fatal anemia at birth, severe transfusion-dependent chronic hemolysis, moderate hemolysis with exacerbation during infection, to a fully compensated hemolysis without apparent anemia. {ECO:0000269PubMed:11328279, ECO:0000269PubMed:1536957, ECO:0000269PubMed:1896471, ECO:0000269PubMed:19085939, ECO:0000269PubMed:2018831, ECO:0000269PubMed:21794208, ECO:0000269PubMed:7706479, ECO:0000269PubMed:8161798, ECO:0000269PubMed:8180378, ECO:0000269PubMed:8476433, ECO:0000269PubMed:8481523, ECO:0000269PubMed:8483951, ECO:0000269PubMed:9482576, ECO:0000269PubMed:9827908, ECO:0000269PubMed:9886305, ECO:0000269Ref.23}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	14 [view]
Protein-Protein	14 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000287	magnesium ion binding
GO:0003824	catalytic activity
GO:0004743	pyruvate kinase activity
GO:0005524	ATP binding
GO:0030955	potassium ion binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006006	glucose metabolic process
GO:0006096	glycolytic process
GO:0006112	energy reserve metabolic process
GO:0016310	phosphorylation
GO:0031018	endocrine pancreas development
GO:0031325	positive regulation of cellular metabolic process
GO:0044281	small molecule metabolic process
GO:0045087	innate immune response (InnateDB)

Cellular Component

GO:0005829	cytosol
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR001697 Pyruvate kinase
IPR011037 Pyruvate kinase-like, insert domain
IPR015793 Pyruvate kinase, barrel
IPR015795 Pyruvate kinase, C-terminal
IPR015813 Pyruvate/Phosphoenolpyruvate kinase-like domain

PFAM

PF00224
PF02887

PRINTS

PR01050

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P30613