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
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Tissue enhanced (kidney, liver)
GTEx:Group enriched (kidney, liver, small intestine)

Protein evidence

Evidence at protein level

Protein localization

Highly selective cytoplasmic expression in hepatocytes, renal tubules and hematopoietic cells.

ANTIBODY RELIABILITY

? »

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
CAB034376 , CAB034378
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Bone marrow

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Tissue enhanced (kidney, liver)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (kidney, liver, small intestine)

Organ

Expression



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 78.38)

Entrez gene

5313

UniProt

P30613 (UniProt - Evidence at protein level)

neXtProt

NX_P30613

Antibodypedia

PKLR antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000342741
 
ENST00000392414
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PKLR-001 ENSP00000339933
ENST00000342741
P30613
Show all »
Show » Show » 574 61.8 No 0
PKLR-002 ENSP00000376214
ENST00000392414
P30613
Show all »
Show » Show » 543 58.5 No 0