PKLR

PKLR
????????? ?????
PDB	?????? ?????????????: PDBe RCSB
????? ????????? PDB
	2VGB , 2VGF , 2VGG , 2VGI , 4IMA , 4IP7
?????????????
??????? ????	PKLR , PK1, PKL, PKR, PKRL, RPK, pyruvate kinase, liver and RBC, pyruvate kinase L/R
????????? ??????	OMIM: 609712 MGI: 97604 HomoloGene: 37286 GeneCards: PKLR
?????? ?? (???)
????????	???????? ? (???)
?????	89,054,091 bp
????? ????? RNA
	; ; ; ;
	More reference expression data
?????????? ??
?????? ??????	? transferase activity ; ? nucleotide binding ; ? potassium ion binding ; ? metal ion binding ; ? kinase activity ; ? catalytic activity ; ? ATP binding ; ? magnesium ion binding ; ? pyruvate kinase activity ;
??????? ?????	? ??????? ; ? extracellular exosome ; ? ????????? ;
?????? ?????	? response to ATP ; ? response to hypoxia ; ? ???????? ; ? 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 ; ? ?????? ; ? response to cAMP ; ? ??????? ; ? cellular response to insulin stimulus ; ? cellular response to epinephrine stimulus ; ? ????????? ?????????? ;
	?????: ????? / ????????
?????????????
	5313
	18770
	ENSG00000262785 ; ENSG00000143627
	ENSMUSG00000041237
	P30613
	P53657
	NM_181871? XM_006711386? XM_011509640? XM_017001493? XM_047422591? XM_047422592 NM_000298? NM_181871? XM_006711386? XM_011509640? XM_017001493? XM_047422591? XM_047422592
	NM_013631? XM_006501134? XM_006501135 NM_001099779? NM_013631? XM_006501134? XM_006501135
	NP_870986? XP_006711449? XP_011507942? XP_016856982 NP_000289? NP_870986? XP_006711449? XP_011507942? XP_016856982
	?/?
	?????????
??????/?????? ?????	??????/?????? ???

??????? ????/?? ??????? ????? ( ??????? : Pyruvate kinase isozymes R/L ) ?? ????? ??? ?? ?? ????? ???? ?? ≪ PKLR ≫ ??????? ??????. ^[?]^[?]

??????? ????? ?? ??? ?? ?? ??????? ????? ??? ?? ???? ??????? ? ATP ?? ?? ???????????????? ??? ??????. ??? ?? ??? ?????? ??? ?? ????? ???? ≪??????? ???????? ???????????? ????≫ ???.

????? [ ?????? ]

↑ ^??? ^??? ^??? GRCm38: Ensembl release 89: ENSMUSG00000041237 - Ensembl , May 2017
↑ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
↑ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
↑ 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 .
↑ "Entrez Gene: PKLR pyruvate kinase, liver and RBC" .

?????????????? ?????????. ≪ PKLR ≫. ?? ????????? ?????????? ??????? ? ??????????? ?? ?? ????? ????.

????? ??????? [ ?????? ]

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, Nurnberg 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 .

??? ?? ?????? ??? ????? ? ??????? ?? ??????????? ???. ????????? ?? ????? ?? ?? ????????? ??? ????.

??? ?? ?????? ??? ?????????? ??????? ???. ????????? ?? ????? ?? ?? ????????? ??? ????.

[refGRCm38Ensembl-1] ??? ^??? ^??? GRCm38: Ensembl release 89: ENSMUSG00000041237 - Ensembl , May 2017

[2] "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .

[3] "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .

[pmid3566732-4] 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 .

[entrez-5] "Entrez Gene: PKLR pyruvate kinase, liver and RBC" .

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