• Gene id: 5313

Gene Summary

• Gene Symbol: PKLR   Gene   UCSC   Ensembl
• Aliases: PK1, PKL, PKRL, RPK
• Gene name: pyruvate kinase L/R
• Alternate names: pyruvate kinase PKLR, R-type/L-type pyruvate kinase, pyruvate kinase 1, pyruvate kinase isozyme R/L, pyruvate kinase isozymes L/R, pyruvate kinase isozymes R/L, pyruvate kinase type L, pyruvate kinase, liver and RBC, pyruvate kinase, liver and blood cell, red cell,
• Gene location: 1q22 (155301437: 155289292)     Exons: 12     NC_000001.11
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: P30613  
  • Name: Pyruvate kinase PKLR (EC 2.7.1.40) (Pyruvate kinase 1) (Pyruvate kinase isozymes L/R) (R type/L type pyruvate kinase) (Red cell/liver pyruvate kinase)
  • Length: 574  
  • Mass: 61830
• Sequence:

  MSIQENISSLQLRSWVSKSQRDLAKSILIGAPGGPAGYLRRASVAQLTQELGTAFFQQQQLPAAMADTFLEHLCL
  LDIDSEPVAARSTSIIATIGPASRSVERLKEMIKAGMNIARLNFSHGSHEYHAESIANVREAVESFAGSPLSYRP
  VAIALDTKGPEIRTGILQGGPESEVELVKGSQVLVTVDPAFRTRGNANTVWVDYPNIVRVVPVGGRIYIDDGLIS
  LVVQKIGPEGLVTQVENGGVLGSRKGVNLPGAQVDLPGLSEQDVRDLRFGVEHGVDIVFASFVRKASDVAAVRAA
  LGPEGHGIKIISKIENHEGVKRFDEILEVSDGIMVARGDLGIEIPAEKVFLAQKMMIGRCNLAGKPVVCATQMLE
  SMITKPRPTRAETSDVANAVLDGADCIMLSGETAKGNFPVEAVKMQHAIAREAEAAVYHRQLFEELRRAAPLSRD
  PTEVTAIGAVEAAFKCCAAAIIVLTTTGRSAQLLSRYRPRAAVIAVTRSAQAARQVHLCRGVFPLLYREPPEAIW
  ADDVDRRVQFGIESGKLRGFLRVGDLVIVVTGWRPGSGYTNIMRVLSIS

• Structural information:
  • Interpro: IPR001697  IPR015813  IPR040442  IPR011037  IPR018209   IPR015793  IPR015795  IPR036918  IPR015806  
  • Prosite: PS00110
  • CDD: cd00288
  • PDB: 2VGB 2VGF 2VGG 2VGI 4IMA 4IP7 6NN4 6NN5 6NN7 6NN8
  • PDBsum: 2VGB 2VGF 2VGG 2VGI 4IMA 4IP7 6NN4 6NN5 6NN7 6NN8
  • STRING: ENSP00000339933
• Other Databases: GeneCards:  PKLR  Malacards:  PKLR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032869	cellular response to insulin stimulus	IBA	biological process
GO:0004743	pyruvate kinase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0006096	glycolytic process	IBA	biological process
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0030955	potassium ion binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0004743	pyruvate kinase activity	IEA	molecular function
GO:0006096	glycolytic process	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006096	glycolytic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0004743	pyruvate kinase activity	TAS	molecular function
GO:0004743	pyruvate kinase activity	IEA	molecular function
GO:0061621	canonical glycolysis	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0071872	cellular response to epinephrine stimulus	IEA	biological process
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0010226	response to lithium ion	IEA	biological process
GO:0009749	response to glucose	IEA	biological process
GO:0009408	response to heat	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0006754	ATP biosynthetic process	IEA	biological process
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0001666	response to hypoxia	IEA	biological process
GO:0051591	response to cAMP	IEA	biological process
GO:0042866	pyruvate biosynthetic process	IEA	biological process
GO:0033198	response to ATP	IEA	biological process
GO:0010038	response to metal ion	IEA	biological process
GO:0006096	glycolytic process	IEA	biological process
GO:0004743	pyruvate kinase activity	IEA	molecular function
GO:0006096	glycolytic process	IEA	biological process
GO:0004743	pyruvate kinase activity	NAS	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa04932	Non-alcoholic fatty liver disease
hsa04910	Insulin signaling pathway
hsa01200	Carbon metabolism
hsa01230	Biosynthesis of amino acids
hsa00010	Glycolysis / Gluconeogenesis
hsa04930	Type II diabetes mellitus
hsa00620	Pyruvate metabolism
hsa04950	Maturity onset diabetes of the young

Diseases

Associated diseases	References
Pyruvate kinase deficiency	KEGG:H01096
Pyruvate kinase deficiency	KEGG:H01096
pyruvate kinase deficiency of red cells	PMID:19755962
pyruvate kinase deficiency of red cells	PMID:16704447
Gaucher's disease	PMID:9677056
Congenital nonspherocytic hemolytic anemia	PMID:7949104
type 2 diabetes mellitus	PMID:12196482
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray