Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5313
Gene name	Pyruvate kinase L/R
Gene symbol	PKLR
Synonyms (NCBI Gene)	CNSHA2PK1PKLPKRLRPK
Chromosome	1
Chromosome location	1q22
Summary	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

Show/Hide all (24)

SNP ID	Visualize variation	Clinical significance	Consequence
rs8177988	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs74315362	G>A	Pathogenic	Missense variant, 3 prime UTR variant, coding sequence variant
rs113403872	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs116100695	G>A	Likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs118204083	G>A	Pathogenic	Missense variant, coding sequence variant
rs118204084	G>T	Pathogenic	Genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant
rs118204085	C>T	Pathogenic	Genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant
rs118204087	C>A,T	Pathogenic	5 prime UTR variant, missense variant, intron variant, coding sequence variant
rs118204089	G>T	Pathogenic	Missense variant, coding sequence variant
rs138871700	G>A	Pathogenic	Missense variant, coding sequence variant
rs185753709	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs201953584	C>A	Pathogenic	Coding sequence variant, stop gained
rs752423472	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs762591322	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, downstream transcript variant, missense variant
rs764143249	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs771145576	C>A,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant, stop gained
rs772567442	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs773626254	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs774652817	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, genic downstream transcript variant, downstream transcript variant
rs886045351	ATG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs918627824	C>T	Pathogenic	Missense variant, coding sequence variant
rs1358047518	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1448381947	C>T	Pathogenic	Intron variant, splice acceptor variant
rs1572057140	C>T	Pathogenic	Splice donor variant

Show/Hide all (54)

miRTarBase ID	miRNA	Experiments
MIRT1237584	hsa-miR-3688-3p	CLIP-seq
MIRT1237585	hsa-miR-1270	CLIP-seq
MIRT1237586	hsa-miR-1273f	CLIP-seq
MIRT1237587	hsa-miR-1296	CLIP-seq
MIRT1237588	hsa-miR-147	CLIP-seq
MIRT1237589	hsa-miR-203	CLIP-seq
MIRT1237590	hsa-miR-2110	CLIP-seq
MIRT1237591	hsa-miR-2355-5p	CLIP-seq
MIRT1237592	hsa-miR-2861	CLIP-seq
MIRT1237593	hsa-miR-2909	CLIP-seq
MIRT1237594	hsa-miR-3179	CLIP-seq
MIRT1237595	hsa-miR-3202	CLIP-seq
MIRT1237596	hsa-miR-3650	CLIP-seq
MIRT1237584	hsa-miR-3688-3p	CLIP-seq
MIRT1237597	hsa-miR-370	CLIP-seq
MIRT1237598	hsa-miR-3911	CLIP-seq
MIRT1237599	hsa-miR-4271	CLIP-seq
MIRT1237600	hsa-miR-4434	CLIP-seq
MIRT1237601	hsa-miR-4436b-3p	CLIP-seq
MIRT1237602	hsa-miR-4468	CLIP-seq
MIRT1237603	hsa-miR-4512	CLIP-seq
MIRT1237604	hsa-miR-4516	CLIP-seq
MIRT1237605	hsa-miR-4648	CLIP-seq
MIRT1237606	hsa-miR-4654	CLIP-seq
MIRT1237607	hsa-miR-4663	CLIP-seq
MIRT1237608	hsa-miR-4667-5p	CLIP-seq
MIRT1237609	hsa-miR-4683	CLIP-seq
MIRT1237610	hsa-miR-4687-5p	CLIP-seq
MIRT1237611	hsa-miR-4688	CLIP-seq
MIRT1237612	hsa-miR-4694-3p	CLIP-seq
MIRT1237613	hsa-miR-4700-5p	CLIP-seq
MIRT1237614	hsa-miR-4713-5p	CLIP-seq
MIRT1237615	hsa-miR-4725-3p	CLIP-seq
MIRT1237616	hsa-miR-4747-5p	CLIP-seq
MIRT1237617	hsa-miR-4769-5p	CLIP-seq
MIRT1237618	hsa-miR-4775	CLIP-seq
MIRT1237619	hsa-miR-590-3p	CLIP-seq
MIRT1237620	hsa-miR-620	CLIP-seq
MIRT1237621	hsa-miR-644	CLIP-seq
MIRT1237622	hsa-miR-660	CLIP-seq
MIRT1237623	hsa-miR-661	CLIP-seq
MIRT1237584	hsa-miR-3688-3p	CLIP-seq
MIRT1237584	hsa-miR-3688-3p	CLIP-seq
MIRT1237618	hsa-miR-4775	CLIP-seq
MIRT1237619	hsa-miR-590-3p	CLIP-seq
MIRT1237622	hsa-miR-660	CLIP-seq
MIRT1237618	hsa-miR-4775	CLIP-seq
MIRT1237619	hsa-miR-590-3p	CLIP-seq
MIRT1237622	hsa-miR-660	CLIP-seq
MIRT2594558	hsa-miR-1253	CLIP-seq
MIRT2594559	hsa-miR-3123	CLIP-seq
MIRT2594560	hsa-miR-3925-5p	CLIP-seq
MIRT2594561	hsa-miR-3976	CLIP-seq
MIRT2594562	hsa-miR-873	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
USF1	Unknown	7852331
USF2	Unknown	7852331

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004743	Function	Pyruvate kinase activity	IBA
GO:0004743	Function	Pyruvate kinase activity	IEA
GO:0004743	Function	Pyruvate kinase activity	NAS	1445295
GO:0004743	Function	Pyruvate kinase activity	TAS	3126495
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006096	Process	Glycolytic process	IBA
GO:0006096	Process	Glycolytic process	IEA
GO:0006096	Process	Glycolytic process	NAS	23270483
GO:0007584	Process	Response to nutrient	IEA
GO:0009749	Process	Response to glucose	IEA
GO:0010038	Process	Response to metal ion	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030955	Function	Potassium ion binding	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IBA
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0033198	Process	Response to ATP	IEA
GO:0042866	Process	Pyruvate biosynthetic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048029	Function	Monosaccharide binding	IEA
GO:0051591	Process	Response to cAMP	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071872	Process	Cellular response to epinephrine stimulus	IEA
GO:1902912	Component	Pyruvate kinase complex	IDA	23270483

MIM	HGNC	e!Ensembl
609712	9020	ENSG00000143627

P30613

Protein 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)

Protein function

Pyruvate kinase that catalyzes the conversion of phosphoenolpyruvate to pyruvate with the synthesis of ATP, and which plays a key role in glycolysis.

PDB

2VGB , 2VGF , 2VGG , 2VGI , 4IMA , 4IP7 , 5SC8 , 5SC9 , 5SCA , 5SCB , 5SCC , 5SCD , 5SCE , 5SCF , 5SCG , 5SCH , 5SCI , 5SCJ , 5SCK , 5SCL , 5SDT , 6NN4 , 6NN5 , 6NN7 , 6NN8 , 7FRV , 7FRW , 7FRX , 7FRY , 7FRZ , 7FS0 , 7FS1 , 7FS2 , 7FS3 , 7FS4 , 7FS5 , 7FS6 , 7FS7 , 7FS8 , 7FS9 , 7FSA , 7FSB , 7FSC , 7FSD , 7QDN , 7QZU , 8TBS , 8TBT , 8TBU , 8XFD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00224	PK	85 → 438	Pyruvate kinase, barrel domain	Family
PF02887	PK_C	453 → 571	Pyruvate kinase, alpha/beta domain	Domain

Sequence

MSIQENISSLQLRSWVSKSQRDLAKSILIGAPGGPAGYLRRASVAQLTQELGTAFFQQQQ
LPAAMADTFLEHLCLLDIDSEPVAARSTSIIATIGPASRSVERLKEMIKAGMNIARLNFS
HGSHEYHAESIANVREAVESFAGSPLSYRPVAIALDTKGPEIRTGILQGGPESEVELVKG
SQVLVTVDPAFRTRGNANTVWVDYPNIVRVVPVGGRIYIDDGLISLVVQKIGPEGLVTQV
ENGGVLGSRKGVNLPGAQVDLPGLSEQDVRDLRFGVEHGVDIVFASFVRKASDVAAVRAA
LGPEGHGIKIISKIENHEGVKRFDEILEVSDGIMVARGDLGIEIPAEKVFLAQKMMIGRC
NLAGKPVVCATQMLESMITKPRPTRAETSDVANAVLDGADCIMLSGETAKGNFPVEAVKM
QHAIAREAEAAVYHRQLFEELRRAAPLSRDPTEVTAIGAVEAAFKCCAAAIIVLTTTGRS
AQLLSRYRPRAAVIAVTRSAQAARQVHLCRGVFPLLYREPPEAIWADDVDRRVQFGIESG
KLRGFLRVGDLVIVVTGWRPGSGYTNIMRVLSIS

Sequence length

574

Interactions

View interactions

	KEGG		Reactome
	Glycolysis / Gluconeogenesis Pyruvate metabolism Metabolic pathways Carbon metabolism Biosynthesis of amino acids Insulin signaling pathway Type II diabetes mellitus Non-alcoholic fatty liver disease Maturity onset diabetes of the young		Glycolysis

183

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital anemia	Pathogenic	rs113403872, rs773626254	RCV005624664 RCV005626197
PKLR-related disorder	Pathogenic; Likely pathogenic	rs754939638, rs574051756, rs981579065, rs113403872, rs116100695, rs772473652, rs1167329263, rs1647346476, rs201255024	RCV003416372 RCV005250195 RCV003911130 RCV003421893 RCV004751189 RCV003900960 RCV003397506 RCV003897035 RCV003405471
Pyruvate kinase deficiency of red cells	Pathogenic; Likely pathogenic	rs754939638, rs1433205059, rs776594413, rs2148218886, rs74315362, rs118204084, rs118204085, rs113403872, rs116100695, rs118204089, rs2148221101, rs771145576, rs774652817, rs1193689718, rs772860949 View all (18 more)	RCV002295341 RCV001732191 RCV002250766 RCV001729977 RCV000001572 RCV000001573 RCV000001574 RCV000001575 RCV000001577 RCV000001578 RCV000001579 RCV000001580 RCV000001581 RCV002251079 RCV002283698 RCV005870045 RCV003140500 RCV005860357 RCV004786875 RCV003447647 RCV000261579 RCV003323341 RCV000371504 RCV003388232 RCV003447748 RCV005254879 RCV003990643 RCV003989411 RCV003991808 RCV004555149 RCV000625798 RCV000714615 RCV000768418 RCV001262945 RCV001534615
Pyruvate kinase hyperactivity	Likely pathogenic; Pathogenic	rs776594413, rs116100695, rs774652817, rs201953584, rs886045351	RCV002246424 RCV000762857 RCV005041964 RCV000762858 RCV002487303
See cases	Likely pathogenic; Pathogenic	rs116100695	RCV002251854

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Glioma susceptibility 1	Uncertain significance	rs768210809	RCV005913656
Hemolytic anemia	Uncertain significance	rs762591322	RCV001003791
Hepatocellular carcinoma	Uncertain significance	rs201674983	RCV005897379

Show/Hide Text Mining Associations (41)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Pain	Associate	35271708
Anemia	Associate	11960989, 29396846, 9166866
Anemia Dyserythropoietic Congenital	Associate	29396846, 36305449
Anemia Hemolytic	Associate	10354118, 11054094, 11328279, 15059150, 29288557, 33370479
Anemia Hemolytic Autoimmune	Associate	21794208
Anemia Hemolytic Congenital	Associate	1536957, 29396846, 9160692
Anemia Hemolytic Congenital Nonspherocytic	Associate	11960989, 15870173, 24375447, 7706479, 8483951, 9057665
Anemia Sickle Cell	Associate	35271708
beta Thalassemia	Associate	40085946
Breast Neoplasms	Associate	30954648
Carcinoma Hepatocellular	Associate	26082033, 30482855, 34512869
Death	Associate	15953013
Diabetes Mellitus Type 2	Associate	19111066, 19141583
Disease	Associate	21815188
Dowling Degos Disease	Associate	11960989
Fatigue	Associate	34470054
Gallbladder Neoplasms	Associate	36180571
Genetic Diseases Inborn	Associate	35168679
Glucosephosphate Dehydrogenase Deficiency	Inhibit	11960989
Glucosephosphate Dehydrogenase Deficiency	Associate	11960989
Glycogen Storage Disease XII	Associate	15953013, 21931771, 9827908
Hyperinsulinism	Associate	19141583
Infections	Associate	36038921
Jaundice	Associate	34311792
Kernicterus	Associate	21815188
Leprosy	Associate	34449765
Lymphatic Metastasis	Associate	30954648
Malaria	Associate	23082140, 34449765, 36038921
Metabolism Inborn Errors	Associate	9657767
Multiple Myeloma	Associate	34956573
Neoplastic Syndromes Hereditary	Associate	9827908
Neuroendocrine Tumors	Associate	35306527
Pancreatic Neoplasms	Associate	32072180
Personality Disorders	Associate	35306527
Prostatic Neoplasms	Associate	35306527
Pyruvate Kinase Deficiency of Red Cells	Associate	10354118, 11054094, 11328279, 12393511, 15059150, 15870173, 15953013, 16704447, 19055867, 21794208, 21815188, 22183074, 23082140, 24375447, 24533562 View all (24 more)
Red Cell Aplasia Pure	Associate	36038921
Spherocytosis Hereditary	Associate	35406697
Stomach Neoplasms	Associate	26330360, 32777176
Tuberculosis	Associate	34449765
Tuberculosis Meningeal	Associate	34449765

PKLR (pyruvate kinase L/R)