Open main menu

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

PKLR
Protein PKLR PDB 1liu.png
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
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for PKLR
Genomic location for PKLR
Band1q22Start155,289,293 bp[1]
End155,301,438 bp[1]
RNA expression pattern
PBB GE PKLR 222078 at fs.png

PBB GE PKLR 210451 at fs.png

PBB GE PKLR 207858 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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: 89.14 – 89.15 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 mapEdit

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

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

See alsoEdit

ReferencesEdit

  1. ^ a b c ENSG00000143627 GRCh38: Ensembl release 89: ENSG00000262785, ENSG00000143627 - Ensembl, May 2017
  2. ^ a b c 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. ^ Tani K, Fujii H, Tsutsumi H, Sukegawa J, Toyoshima K, Yoshida MC, Noguchi T, Tanaka T, Miwa S (Apr 1987). "Human liver type pyruvate kinase: cDNA cloning and chromosomal assignment". Biochem Biophys Res Commun. 143 (2): 431–8. doi:10.1016/0006-291X(87)91372-6. PMID 3566732.
  6. ^ a b "Entrez Gene: PKLR pyruvate kinase, liver and RBC".

Further readingEdit