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PKLR

GENERAL INFORMATION

Gene name

 PKLR

Gene description

 Pyruvate kinase, liver and RBC

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (liver, kidney)
GTEx:Group enriched (liver, kidney, small intestine)
FANTOM5:Tissue enhanced (liver, small intestine)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression mainly in hepatocytes, hematopoietic cells and cells in renal tubules.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data. Presumed off target binding observed and disregarded.

Reliability score

 Supported based on 2 antibodies.
CAB034376 , CAB034378
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Bone marrow

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (liver, kidney)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (liver, kidney, small intestine)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (liver, small intestine)

GENE INFORMATION

Gene name

 PKLR

Synonyms

Description

 Pyruvate kinase, liver and RBC (HGNC Symbol)

Entrez gene summary

 The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Chromosome

 1

Cytoband

 q22

Chromosome location (bp)

 155289839 - 155301434

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000143627 (version 83.38)

Entrez gene

 5313

UniProt

 P30613 (UniProt - Evidence at protein level)

neXtProt

 NX_P30613

Antibodypedia

 PKLR antibodies

PROTEIN BROWSER
PKLR-001
PKLR-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PKLR-001
ENSP00000339933
ENST00000342741
P30613 [Direct mapping]
Pyruvate kinase PKLR
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Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000287 [magnesium ion binding]
GO:0001666 [response to hypoxia]
GO:0003824 [catalytic activity]
GO:0004743 [pyruvate kinase activity]
GO:0005524 [ATP binding]
GO:0005829 [cytosol]
GO:0005975 [carbohydrate metabolic process]
GO:0006006 [glucose metabolic process]
GO:0006096 [glycolytic process]
GO:0006112 [energy reserve metabolic process]
GO:0006754 [ATP biosynthetic process]
GO:0007584 [response to nutrient]
GO:0009408 [response to heat]
GO:0009749 [response to glucose]
GO:0010038 [response to metal ion]
GO:0010226 [response to lithium ion]
GO:0014070 [response to organic cyclic compound]
GO:0016301 [kinase activity]
GO:0030955 [potassium ion binding]
GO:0031018 [endocrine pancreas development]
GO:0031325 [positive regulation of cellular metabolic process]
GO:0032869 [cellular response to insulin stimulus]
GO:0033198 [response to ATP]
GO:0042866 [pyruvate biosynthetic process]
GO:0044281 [small molecule metabolic process]
GO:0051591 [response to cAMP]
GO:0051707 [response to other organism]
GO:0061621 [canonical glycolysis]
GO:0070062 [extracellular exosome]
Show all
 574 aa
61.8 kDa 		No 0
PKLR-002
ENSP00000376214
ENST00000392414
P30613 [Direct mapping]
Pyruvate kinase PKLR
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000287 [magnesium ion binding]
GO:0003824 [catalytic activity]
GO:0004743 [pyruvate kinase activity]
GO:0005524 [ATP binding]
GO:0005829 [cytosol]
GO:0005975 [carbohydrate metabolic process]
GO:0006006 [glucose metabolic process]
GO:0006096 [glycolytic process]
GO:0006112 [energy reserve metabolic process]
GO:0016301 [kinase activity]
GO:0030955 [potassium ion binding]
GO:0031018 [endocrine pancreas development]
GO:0031325 [positive regulation of cellular metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0061621 [canonical glycolysis]
GO:0070062 [extracellular exosome]
Show all
 543 aa
58.5 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.