PKLR

GENE INFORMATION

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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 (Chromosome progress)

Cytoband

q22

Chromosome location (bp)

155259630 - 155271225

Ensembl

ENSG00000143627 (version 73.37)

Entrez gene

5313

UniProt

P30613 (UniProt - Evidence at protein level)

neXtProt

NX_P30613

Antibodypedia

PKLR antibodies
 

PROTEIN VIEW

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PKLR-001
 
PKLR-002
 
PKLR-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PKLR-001 ENSP00000339933
ENST00000342741
P30613
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Show » Show » 574 61.8 No 0
PKLR-002 ENSP00000376214
ENST00000392414
P30613
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Show » Show » 543 58.5 No 0
PKLR-004 ENSP00000398037
ENST00000434082
F8W6W2
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46 4.8 No 0