PKLR

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
2VGB, 2VGF, 2VGG, 2VGI, 4IMA, 4IP7

Identifiers

Aliases

PKLR, PK1, PKL, PKR, PKRL, RPK, pyruvate kinase, liver and RBC

External IDs

MGI: 97604 HomoloGene: 37286 GeneCards: PKLR

Gene ontology
Molecular function	• transferase activity • nucleotide binding • potassium ion binding • metal ion binding • kinase activity • catalytic activity • ATP binding • magnesium ion binding • pyruvate kinase activity
Cellular component	• cytosol • extracellular exosome
Biological process	• response to ATP • response to hypoxia • glycolytic process • response to organic cyclic compound • phosphorylation • response to nutrient • canonical glycolysis • response to metal ion • pyruvate biosynthetic process • response to heat • response to glucose • response to lithium ion • ATP biosynthetic process • cellular response to insulin stimulus • metabolic process • response to cAMP • carbohydrate metabolic process
Sources:Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

Entrez


5313


18770

Ensembl


n/a


ENSMUSG00000041237

UniProt


P30613


P53657

RefSeq (mRNA)


NM_000298 NM_181871


NM_001099779 NM_013631

RefSeq (protein)


NP_000289.1 NP_870986.1


n/a

Location (UCSC)

Chr 1: 155.29 – 155.3 Mb

Chr 3: 89.14 – 89.15 Mb

PubMed search

^[1]

^[2]

Wikidata

View/Edit Human

View/Edit Mouse

Pyruvate kinase isozymes R/L is an enzyme that in humans is encoded by the PKLR gene.^[3]^[4]

The protein encoded by this gene is a pyruvate kinase that catalyzes the production of phosphoenolpyruvate from pyruvate and ATP. 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.^[4]

Interactive pathway map

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

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|{{{bSize}}}px|alt=Glycolysis and Gluconeogenesis edit]]

Glycolysis and Gluconeogenesis edit

↑ The interactive pathway map can be edited at WikiPathways: "GlycolysisGluconeogenesis_WP534".

References

↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ 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.
1 2 "Entrez Gene: PKLR pyruvate kinase, liver and RBC".

Beutler E, Baronciani L (1996). "Mutations in pyruvate kinase.". Hum. Mutat. 7 (1): 1–6. doi:10.1002/(SICI)1098-1004(1996)7:1<1::AID-HUMU1>3.0.CO;2-H. PMID 8664896.
Baronciani L, Bianchi P, Zanella A (1999). "Hematologically important mutations: red cell pyruvate kinase (2nd update).". Blood Cells Mol. Dis. 24 (3): 273–9. doi:10.1006/bcmd.1998.0193. PMID 10087985.
Zanella A, Fermo E, Bianchi P, et al. (2007). "Pyruvate kinase deficiency: the genotype-phenotype association.". Blood Rev. 21 (4): 217–31. doi:10.1016/j.blre.2007.01.001. PMID 17360088.
Kanno H, Fujii H, Miwa S (1992). "Structural analysis of human pyruvate kinase L-gene and identification of the promoter activity in erythroid cells.". Biochem. Biophys. Res. Commun. 188 (2): 516–23. doi:10.1016/0006-291X(92)91086-6. PMID 1445295.
Kanno H, Fujii H, Hirono A, et al. (1992). "Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia.". Blood. 79 (5): 1347–50. PMID 1536957.
Dawson SJ, White LA (1992). "Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin.". J. Infect. 24 (3): 317–20. doi:10.1016/S0163-4453(05)80037-4. PMID 1602151.
Kanno H, Fujii H, Hirono A, Miwa S (1991). "cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384----Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia.". Proc. Natl. Acad. Sci. U.S.A. 88 (18): 8218–21. doi:10.1073/pnas.88.18.8218. PMC 52478. PMID 1896471.
Neubauer B, Lakomek M, Winkler H, et al. (1991). "Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency.". Blood. 77 (9): 1871–5. PMID 2018831.
Tani K, Fujii H, Nagata S, Miwa S (1988). "Human liver type pyruvate kinase: complete amino acid sequence and the expression in mammalian cells.". Proc. Natl. Acad. Sci. U.S.A. 85 (6): 1792–5. doi:10.1073/pnas.85.6.1792. PMC 279865. PMID 3126495.
Satoh H, Tani K, Yoshida MC, et al. (1988). "The human liver-type pyruvate kinase (PKL) gene is on chromosome 1 at band q21.". Cytogenet. Cell Genet. 47 (3): 132–3. doi:10.1159/000132530. PMID 3378452.
Baronciani L, Beutler E (1995). "Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.". J. Clin. Invest. 95 (4): 1702–9. doi:10.1172/JCI117846. PMC 295683. PMID 7706479.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene. 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Kanno H, Ballas SK, Miwa S, et al. (1994). "Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish.". Blood. 83 (8): 2311–6. PMID 8161798.
Lenzner C, Nürnberg P, Thiele BJ, et al. (1994). "Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia.". Blood. 83 (10): 2817–22. PMID 8180378.
Kanno H, Fujii H, Tsujino G, Miwa S (1993). "Molecular basis of impaired pyruvate kinase isozyme conversion in erythroid cells: a single amino acid substitution near the active site and decreased mRNA content of the R-type PK.". Biochem. Biophys. Res. Commun. 192 (1): 46–52. doi:10.1006/bbrc.1993.1379. PMID 8476433.
Kanno H, Fujii H, Miwa S (1993). "Low substrate affinity of pyruvate kinase variant (PK Sapporo) caused by a single amino acid substitution (426 Arg-->Gln) associated with hereditary hemolytic anemia.". Blood. 81 (9): 2439–41. PMID 8481523.
Baronciani L, Beutler E (1993). "Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia.". Proc. Natl. Acad. Sci. U.S.A. 90 (9): 4324–7. doi:10.1073/pnas.90.9.4324. PMC 46499. PMID 8483951.
Baronciani L, Bianchi P, Zanella A (1996). "Hematologically important mutations: red cell pyruvate kinase.". Blood Cells Mol. Dis. 22 (1): 85–9. doi:10.1006/bcmd.1996.0012. PMID 8807089.

PDB gallery

1liu:

1liw:

1lix:

1liy:

Metabolism: carbohydrate metabolism: glycolysis/gluconeogenesis enzymes

Glycolysis

Gluconeogenesis only

to oxaloacetate:	Pyruvate carboxylase Phosphoenolpyruvate carboxykinase

from lactate (Cori cycle):	Lactate dehydrogenase

from alanine (Alanine cycle):	Alanine transaminase

from glycerol:	Glycerol kinase Glycerol dehydrogenase

Regulatory

This article is issued from Wikipedia - version of the 6/3/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.

PKLR

Interactive pathway map

See also

References

Further reading