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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PKLR Gene

protein-coding GIFtS: 69
GCID: GC01M155259

pyruvate kinase, liver and RBC

Explore 29 diseases affiliated with
PKLR via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Pyruvate Kinase, Liver And RBC¹ ²		PKR²
PK1² ³ ⁵		PKRL²
Pyruvate Kinase 1² ³		RPK²
Red Cell/Liver Pyruvate Kinase² ³		Pyruvate Kinase Isozyme R/L²
PKL² ³		Pyruvate Kinase Isozymes R/L²
R-Type/L-Type Pyruvate Kinase² ³		Pyruvate Kinase Type L²
EC 2.7.1.40³ ⁸		Pyruvate Kinase, Liver And Blood Cell²

External Ids:	HGNC: 9020¹	Entrez Gene: 5313²	Ensembl: ENSG00000143627⁷	OMIM: 609712⁵	UniProtKB: P30613³

Export aliases for PKLR gene to outside databases

Previous GC identifers: GC01M153117 GC01M151000 GC01M152037 GC01M152476 GC01M152072 GC01M153526 GC01M126621

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PKLR:

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, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA).

Multiple transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: KPYR_HUMAN, P30613

Function: Plays a key role in glycolysis (By similarity)

Gene Wiki entry for PKLR

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PKLR gene promoter:
SEF-1 (1) NF-kappaB1 NF-kappaB YY1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PKLR promoter sequence

Search SABiosciences Chromatin IP Primers for PKLR

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PKLR

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21 Ensembl cytogenetic band: 1q22 HGNC cytogenetic band: 1q22

PKLR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PKLR gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M155259: view genomic region (about GC identifiers)

Start:	155,259,084 bp from pter	End:	155,271,225 bp from pter
Size:	12,142 bases	Orientation:	minus strand

1 alternative location:

Chr1-,PATCHES 155,274,474-155,286,615

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: KPYR_HUMAN, P30613 (See protein sequence)

Recommended Name: Pyruvate kinase isozymes R/L

Size: 574 amino acids; 61830 Da

Cofactor: Magnesium

Cofactor: Potassium

Subunit: Homotetramer

Miscellaneous: There are 4 isozymes of pyruvate kinase in mammals: L, R, M1 and M2. L type is major isozyme in the

liver, R is found in red cells, M1 is the main form in muscle, heart and brain, and M2 is found in early fetal tissues

6 PDB 3D structures from and Proteopedia for PKLR:

2VGB (3D)

2VGF (3D)

2VGG (3D)

2VGI (3D)

4IMA (3D)

4IP7 (3D)

Secondary accessions: P11973

Alternative splicing: 2 isoforms: P30613-1 P30613-2

Explore the universe of human proteins at neXtProt for PKLR: NX_P30613

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P30613

4/19 DME Specific Peptides for PKLR (P30613) (see all 19)

DDGLISL

RLNFSHG

MLSGETA

LDIDSEP

PKLR Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000289.1 NP_870986.1

ENSEMBL proteins:

ENSP00000376214 ENSP00000339933 ENSP00000398037

Reactome Protein details: P30613
Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for PKLR
	Uscn Proteins for PKLR

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005625	soluble fraction	--	--
GO:0005829	cytosol	TAS	--

PKLR for ontologies About GeneDecksing

PKLR Antibody Products:

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	ThermoFisher Antibody for PKLR

Assay Products for PKLR:

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for PKLR

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PKLR for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR015806 Pyrv_Knase_insert_dom

IPR015794 Pyrv_Knase_a/b

IPR015795 Pyrv_Knase_C

IPR018209 Pyrv_Knase_AS

IPR015813 Pyrv/PenolPyrv_Kinase

Graphical View of Domain Structure for InterPro Entry P30613

ProtoNet protein and cluster: P30613

1 Blocks protein family: IPB001697 Pyruvate kinase

UniProtKB/Swiss-Prot: KPYR_HUMAN, P30613

Similarity: Belongs to the pyruvate kinase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: KPYR_HUMAN, P30613

Function: Plays a key role in glycolysis (By similarity)

Catalytic activity: ATP + pyruvate = ADP + phosphoenolpyruvate

Enzyme regulation: Allosterically activated by fructose 1,6-bisphosphate

Genatlas biochemistry entry for PKLR:

pyruvate kinase,homotetramer of 50.60kDa subunit,with two forms,one liver specific,the other erythrocyte

specific,transcribed from a distinct promoter,glycolysis,energy pathway,generating ATP from ADP

Enzyme Number (IUBMB): EC 2.7.1.40¹ ²

miRNA Products:		OriGene 3'-UTR Clone (see all 2): PKLR Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PKLR
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate PKLR:
		hsa-miR-1266 hsa-miR-629 hsa-miR-4297 hsa-miR-664
		SwitchGear 3'UTR luciferase reporter plasmid: PKLR 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PKLR (see all 7) OriGene shRNA RFP: PKLR OriGene siRNA: PKLR
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for PKLR

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		GenScript: all cDNA clones in your preferred vector (see all 2): PKLR (NM_181871)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PKLR
		Search LifeMap BioReagents cell lines for PKLR

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKLR

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000287	magnesium ion binding	IEA	--
GO:0004743	pyruvate kinase activity	IEA	--
GO:0005524	ATP binding	IEA	--
GO:0030955	potassium ion binding	IEA	--

PKLR for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for PKLR:

Decreased POU5F1-GFP protein e

Increased circadian period len

Animal Models:
5 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Pklr):

hematopoietic system

homeostasis/metabolism

immune system

mortality/aging

normal

PKLR for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Glycolysis and gluconeogenesis (short map)

	Glycolysis and gluconeogenesis (short map)	1.00			Glycolysis and Gluconeogenesis	0.60
	Glycolysis and gluconeogenesis (short map)	0.97			Glycolysis / Gluconeogenesis	0.41

Regulation of beta-cell development

	Regulation of beta-cell development	1.00			Regulation of gene expression in beta cells	0.56
	Maturity onset diabetes of the young	0.56

Saturated fatty acid biosynthesis

	ChREBP activates metabolic gene expression	0.38			HNF1A-dependent synthesis of the L isoform of PKLR protein	0.00
	Transcriptional activation of pyruvate kinase gene by ChREBP:MLX	0.00

Glucose metabolism

Glucose metabolism

1.00

Glycolysis

0.44

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for PKLR

	G-protein signaling G-Protein alpha-s signaling cascades
	Glycolysis and gluconeogenesis (short map)

2 GeneGo (Thomson Reuters) Pathways for PKLR

	G-protein signaling G-Protein alpha-s signaling cascades
	Glycolysis and gluconeogenesis (short map)

3 BioSystems Pathways for PKLR

	Glycolysis and Gluconeogenesis
	glycolysis I
	FOXA2 and FOXA3 transcription factor networks

5/11 Reactome Pathways for PKLR (see all 11)

	Developmental Biology
	Metabolism of carbohydrates
	HNF1A-dependent synthesis of the L isoform of PKLR protein
	Metabolism
	Regulation of beta-cell development

5/7 Kegg Pathways (Kegg details for PKLR) (see all 7):

	Glycolysis / Gluconeogenesis
	Purine metabolism
	Pyruvate metabolism
	Metabolic pathways
	Insulin signaling pathway

UniProtKB/Swiss-Prot: KPYR_HUMAN, P30613

Pathway: Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 5/5

PKLR for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PKLR

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/182 Interacting proteins for PKLR (P30613³ ENSP00000339933⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 182)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PKM	P14618³, ENSP00000320171⁴	I2D: score=3 STRING: ENSP00000320171
CLEC4G	Q6UXB4³, ENSP00000327599⁴	I2D: score=2 STRING: ENSP00000327599
ARHGEF6	Q15052³, ENSP00000250617⁴	I2D: score=1 STRING: ENSP00000250617
ENSG00000258947	Q13509³	I2D: score=1
KIF23	Q02241³, ENSP00000260363⁴	I2D: score=1 STRING: ENSP00000260363

About this table

Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001666	response to hypoxia	IEA	--
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0006006	glucose metabolic process	TAS	--
GO:0006096	glycolysis	TAS	--
GO:0006112	energy reserve metabolic process	TAS	--

PKLR for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PKLR for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PKLR

10/19 HMDB Compounds for PKLR (see all 19) About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
CDP	CDP (see all 3)	63-38-7	--
Carbon dioxide	Carbon oxide (see all 5)	124-38-9	--
Cytidine triphosphate	cytidine 5'-(tetrahydrogen triphosphate) (see all 15)	65-47-4	--
Guanosine diphosphate	5'-GDP (see all 10)	146-91-8	--
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--
IDP	5'-IDP (see all 10)	86-04-4	--
Inosine triphosphate	inosine 5'-(tetrahydrogen triphosphate) (see all 13)	132-06-9	--
Magnesium	Magnesium (see all 2)	7439-95-4	--

3 DrugBank Compounds for PKLR About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Pyruvic acid	2-Oxopropanoate (see all 8)	127-17-3	target	--	16720364 17547515 16644726 16365052 17574881
2-Phosphoglycolic Acid	--	13147-57-4	target	--	17139284 17016423
Fructose-1,6-Diphosphate	--	--	target	--	17139284 17016423

10/12 Novoseek chemical compound relationships for PKLR gene (see all 12) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pyruvate	88.7	86	8005587 (2), 9827908 (2), 11054094 (2), 15059150 (2) (see all 66)
phosphoenolpyruvate	43	2	15585594 (1), 2210156 (1)
glucose	39.5	26	17160355 (2), 9680311 (1), 9822613 (1), 11833461 (1) (see all 17)
carbohydrates	28	2	11833461 (1), 11498026 (1)
alpha-ketoglutarate	24.4	2	10944108 (1), 10967120 (1)
phenylalanine	16.8	2	1301225 (1), 1301944 (1)
glyceraldehyde 3-phosphate	15.9	1	9006960 (1)
glycogen	8.56	1	15585594 (1)
atp	1.64	1	9090535 (1)
tyrosine	0	5	16000375 (3), 19776348 (1)

Search CenterWatch for drugs/clinical trials and news about PKLR / KPYR

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PKLR gene (2 alternative transcripts):

NM_000298.5 NM_181871.3

Unigene Cluster for PKLR:

Pyruvate kinase, liver and RBC

Hs.95990 [show with all ESTs]

Unigene Representative Sequence: NM_000298

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000392414(uc001fka.4 uc010pga.1 uc001fkb.4) ENST00000342741

ENST00000434082

miRNA Products:		OriGene 3'-UTR Clone (see all 2): PKLR Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PKLR
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		hsa-miR-1266 hsa-miR-629 hsa-miR-4297 hsa-miR-664
		SwitchGear 3'UTR luciferase reporter plasmid: PKLR 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PKLR (see all 7) OriGene shRNA RFP: PKLR OriGene siRNA: PKLR
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PKLR

Additional cDNA sequence:

AB015983.1 AK225947.1 AK298399.1 BC025737.1 M15465.1 S60712.1

2 DOTS entries:

DT.453928 DT.92424483

24/40 AceView cDNA sequences (see all 40):

AB015983 BE552145 AW237441 NM_000298 AI249720 R91646 NM_181871 BX284102

AV649105 AI471865 AI478290 BE501569 BI838803 BF110802 AV648758 W93388

M15465 AI032950 BG674807 BG426381 AI081717 BG545145 BC025737 H77541

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PKLR expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

PKLR expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Liver

Liver Lobule

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See PKLR Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PKLR

SOURCE GeneReport for Unigene cluster: Hs.95990

SABiosciences Expression via Pathway-Focused PCR Arrays including PKLR:

Insulin Signaling Pathway in human mouse rat

Fatty Liver in human mouse rat

Glucose Metabolism in human mouse rat

Drug Metabolism in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PKLR

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKLR

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for PKLR gene from 7/33 species (see all 33) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
zebrafish (Danio rerio)	Actinopterygii	BC055561.1²	--	75.04(n)		114551 BC055561.1
fruit fly (Drosophila melanogaster)	Insecta	PyK⁶ CG2964⁶ (see all 4)	--	57(a) 40(a) (see all 4)	possible ortholog possible ortholog (see all 4)	3R(18193234-18198464) 2L(2812437-2814429)
worm (Caenorhabditis elegans)	Secernentea	pyk-2⁶ pyk-1⁶	Pyruvate kinase	55(a) 35(a)	possible ortholog possible ortholog	IV(10909894-10913058) I(9168417-9177490)
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	PYK2(YOR347C)⁴ PYK2¹	Pyruvate kinase that appears to be modulated by phosphorylation; more⁴ Pyk2p¹	52.96(n)¹ 50.7(a)¹		15(986462-984942)⁴ 854529^{1, 4} NP_014992.3¹ NP_014992.1⁴
thale cress (Arabidopsis thaliana)	eudicotyledons	AT3G04050¹	pyruvate kinase	52.4(n) 48.69(a)		819560 NM_111276.1 NP_187055.1
rice (Oryza sativa)	Liliopsida	Os.7908²	Rice mRNA for pyruvate kinase, partial sequence	73.04(n)		AK068805.1
E. coli (Escherichia coli)	Gamma proteobacteria	pykF⁶ pykA⁶	pyruvate kinase II	46(a) 35(a)	1 ↔ many possible ortholog	Chromosome(1753722-1755134) Chromosome(1935673-1937115)

ENSEMBL Gene Tree for PKLR (if available)
TreeFam Gene Tree for PKLR (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for PKLR gene

PKM²

2 SIMAP similar genes for PKLR using alignment to 2 protein entries: KPYR_HUMAN (see all proteins):

PKM2 PKM

PKLR for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs113403872^1,2	C,F,	pathogenic	155261636(+)	`CTCCTC/TGGCAT`	4	Q R	mis¹		1		NA	4552
rs116100695^1,2	C,F,	pathogenic	155261709(+)	`GTACCG/AAGACA`	4	/R /W	mis¹		3		NA EU	5623
rs118204085^1,2	C	pathogenic	155262968(-)	`TGGCCG/AGTGAG`	4	/H /R	mis¹		1		EU	1323
rs8177998^1,2	C,F,	--	126621164(-)	`CAGAGG/AGTAGA`	2	--	ds500¹		5		NS NA WA	300
rs58009547^1,2		--	126621227(+)	`CTTTTC/TGTAAA`	2	--	ds500¹		0	--	--	--	--
rs8177997^1,2	C,F,H,	--	126621331(-)	`GGGGGG/TGATCT`	2	--	ds500¹		8		NS NA WA	1180
rs8177996^1,2	C,F,H,	--	126621337(-)	`TCCACC/TGGGGG`	2	--	ds500¹		8		NS NA WA	1190
rs41264939^1,2	C,	--	126621782(+)	`TTACCA/CCCCTC`	2	--	ut3¹		0	--	--	--	--
rs3814319^1,2	C,F,A,H,	--	155258752(-)	`GGTGAT/CTGGCA`	4	--	ds500¹ ut3¹		20		NS NA WA CSA EA	1201
rs3814318^1,2	C,F,A,H,	--	155258756(-)	`CACAGG/ATGACT`	4	--	ds500¹ ut3¹		14		NS NA WA CSA EA	551

HapMap Linkage Disequilibrium report for PKLR (155259084 - 155271225 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for PKLR
4 CNVs: 3315 65020 4257 6789
Human Gene Mutation Database (HGMD): PKLR

Locus Specific Mutation Databases (LSDB): PKLR

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PKLR

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PKLR for disorders           About GeneDecksing

OMIM gene information: 609712
OMIM disorders: 266200  102900
UniProtKB/Swiss-Prot: KPYR_HUMAN, P30613

Defects in PKLR are the cause of pyruvate kinase hyperactivity (PKHYP) [MIM:102900]; also known as high red

cell ATP syndrome. This autosomal dominant phenotype is characterized by increase of red blood cell ATP

Defects in PKLR are the cause of pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]. A frequent cause

of hereditary non-spherocytic hemolytic anemia. Clinically, pyruvate kinase-deficient patients suffer from a highly

variable degree of chronic hemolysis, ranging from severe neonatal jaundice and fatal anemia at birth, severe

transfusion-dependent chronic hemolysis, moderate hemolysis with exacerbation during infection, to a fully compensated

hemolysis without apparent anemia

20/29 diseases for PKLR (see all 29): About MalaCards

adenosine triphosphate, elevated, of erythrocytes hemolytic anemia pyruvate kinase deficiency anemia

maturity-onset diabetes of the young hereditary spherocytosis neonatal jaundice spherocytosis

gaucher's disease insensitivity to pain anhidrosis sickle cell disease

jaundice insulinoma endocarditis thalassemia

hyperglycemia colorectal cancer nephropathy breast cancer

3 diseases from the University of Copenhagen DISEASES database for PKLR:

Anemia Gaucher's disease Malaria

8 Novoseek disease relationships for PKLR gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pyruvate kinase deficiency	96.7	14	19755962 (1), 9827908 (1), 11668614 (1), 17222205 (1) (see all 14)
hereditary nonspherocytic hemolytic anemia	93.8	2	9482576 (1), 8664896 (1)
anemia hemolytic	76.9	13	17550844 (2), 15870173 (2), 10679942 (1), 19755962 (1) (see all 9)
gaucher disease	67.4	2	9608355 (1), 9677056 (1)
anemia hemolytic congenital	64.4	1	9160692 (1)
insulinoma	43.8	1	1720308 (1)
anemia	23.5	4	15642665 (2), 11054094 (1), 15870173 (1)
hemolysis	17.5	2	17550844 (1)

Genatlas disease: PKLR

hemolytic anemia

Genetic Association Database (GAD): PKLR
Human Genome Epidemiology (HuGE) Navigator: PKLR (7 documents)

Export disorders for PKLR gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PKLR gene, integrated from 9 sources (see all 173):
(articles sorted by number of sources associating them with PKLR)

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Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia. (PubMed id 1536957)^{1, 2, 4} Kanno H.... Miwa S. (1992)
Human liver type pyruvate kinase: cDNA cloning and chromosomal assignment. (PubMed id 3566732)^{1, 2, 3} Tani K.... Miwa S. (1987)
Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK. (PubMed id 19085939)^{1, 2, 9} van Wijk R.... van Solinge W.W. (2009)
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. (PubMed id 8476433)^{1, 2, 9} Kanno H.... Miwa S. (1993)
Population genetics of four PKLR intragenic polymorphisms in Portugal and Sao Tome e Principe (Gulf of Guinea). (PubMed id 11459427)^{1, 4, 9} Manco L....Amorim A. (2001)
Liver pyruvate kinase polymorphisms are associated with type 2 diabetes in northern European Caucasians. (PubMed id 12196482)^{1, 4, 9} Wang H....Elbein S.C. (2002)
Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients. (PubMed id 9827908)^{1, 2, 9} Zarza R.... Vives Corrons J.L. (1998)
Pyruvate kinase deficient hemolytic anemia in the Northern Irish population. (PubMed id 17574881)^{1, 7, 9} Percy M.J....McMullin M.F. (2007)
Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy. (PubMed id 9482576)^{1, 2, 9} Pastore L.... Salvatore F. (1998)
G-to-T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP. (PubMed id 9090535)^{1, 2, 9} Beutler E.... Roos D. (1997)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5313	HGNC: 9020	AceView: PKLR	Ensembl:ENSG00000143627	euGenes: HUgn5313
ECgene: PKLR	Kegg: 5313	H-InvDB: PKLR

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PKLR	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PKLR
NIEHS-SNPs	http://egp.gs.washington.edu/data/pklr/
Wikipedia	http://en.wikipedia.org/wiki/Pyruvate_kinase
PKLR Mutation Database	http://www.pklrmutationdatabase.com/

Intellectual Property for PKLR gene
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Patent Information for PKLR gene:
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GeneCards and IP:
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