PKLR
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPKLR, PK1, PKL, PKR, PKRL, RPK, pyruvate kinase, liver and RBC, pyruvate kinase L/R
External IDsOMIM: 609712 MGI: 97604 HomoloGene: 37286 GeneCards: PKLR
Orthologs
SpeciesHumanMouse
Entrez

5313

18770

Ensembl

ENSG00000262785
ENSG00000143627

ENSMUSG00000041237

UniProt

P30613

P53657

RefSeq (mRNA)

NM_000298
NM_181871

NM_001099779
NM_013631

RefSeq (protein)

NP_000289
NP_870986

n/a

Location (UCSC)Chr 1: 155.29 – 155.3 MbChr 3: 89.04 – 89.05 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Pyruvate kinase PKLR is an enzyme that in humans is encoded by the PKLR gene.[5][6]

The protein encoded by this gene is a pyruvate kinase that catalyzes the production of pyruvate and ATP from phosphoenolpyruvate. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Alternatively spliced transcript variants encoding distinct isoforms have been described.[6]

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective articles.[§ 1]

[[File:
GlycolysisGluconeogenesis_WP534
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GlycolysisGluconeogenesis_WP534
|alt=Glycolysis and Gluconeogenesis edit]]
Glycolysis and Gluconeogenesis edit
  1. The interactive pathway map can be edited at WikiPathways: "GlycolysisGluconeogenesis_WP534".

References

  1. 1 2 3 ENSG00000143627 GRCh38: Ensembl release 89: ENSG00000262785, ENSG00000143627 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041237 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "PKLR - Pyruvate kinase PKLR - Homo sapiens (Human) - PKLR gene & protein". www.uniprot.org. Retrieved 26 March 2022.
  6. 1 2 "Entrez Gene: PKLR pyruvate kinase, liver and RBC".

Further reading


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