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PKLR pyruvate kinase, liver and RBC [ Homo sapiens (human) ]

Gene ID: 5313, updated on 5-Oct-2014
Official Symbol
PKLRprovided by HGNC
Official Full Name
pyruvate kinase, liver and RBCprovided by HGNC
Primary source
HGNC:HGNC:9020
See related
Ensembl:ENSG00000143627; HPRD:11841; MIM:609712; Vega:OTTHUMG00000035875
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PK1; PKL; PKR; RPK; PKRL
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, 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]
See PKLR in Epigenomics, MapViewer
Location:
1q21
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (155289293..155308723, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155259084..155278531, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene secretory carrier membrane protein 3 Neighboring gene CDC-like kinase 2 Neighboring gene hyperpolarization activated cyclic nucleotide-gated potassium channel 3 Neighboring gene farnesyl diphosphate synthase Neighboring gene RUSC1 antisense RNA 1 Neighboring gene RUN and SH3 domain containing 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Adenosine triphosphate, elevated, of erythrocytes
MedGen: C1863224 OMIM: 102900 GeneReviews: Not available
Compare labs
Pyruvate kinase deficiency
MedGen: C1849472 OMIM: 266200 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
NHGRI GWA Catalog
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA Catalog

Replication interactions

Interaction Pubs
Knockdown of pyruvate kinase, liver and RBC (PKLR) by siRNA has both activating and inhibiting activities on HIV-1 replication in HeLa P4/R5 cells, suggesting a regulatory role in HIV replication PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
potassium ion binding IEA
Inferred from Electronic Annotation
more info
 
pyruvate kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
ATP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
cellular response to insulin stimulus IEA
Inferred from Electronic Annotation
more info
 
endocrine pancreas development TAS
Traceable Author Statement
more info
 
energy reserve metabolic process TAS
Traceable Author Statement
more info
 
glucose metabolic process TAS
Traceable Author Statement
more info
 
glycolytic process IEA
Inferred from Electronic Annotation
more info
 
glycolytic process TAS
Traceable Author Statement
more info
 
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cellular metabolic process TAS
Traceable Author Statement
more info
 
pyruvate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
response to ATP IEA
Inferred from Electronic Annotation
more info
 
response to cAMP IEA
Inferred from Electronic Annotation
more info
 
response to glucose IEA
Inferred from Electronic Annotation
more info
 
response to heat IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to lithium ion IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IEA
Inferred from Electronic Annotation
more info
 
response to other organism IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
pyruvate kinase PKLR
Names
pyruvate kinase PKLR
pyruvate kinase 1
pyruvate kinase type L
pyruvate kinase isozyme R/L
pyruvate kinase isozymes L/R
pyruvate kinase isozymes R/L
R-type/L-type pyruvate kinase
red cell/liver pyruvate kinase
pyruvate kinase, liver and blood cell
NP_000289.1
NP_870986.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011677.1 

    Range
    5001..17142
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000298.5NP_000289.1  pyruvate kinase PKLR isoform 1

    See proteins identical to NP_000289.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Isoform 1 is also known as type R.
    Source sequence(s)
    AB015983, AL713999, BC025737, BF110802
    Consensus CDS
    CCDS1109.1
    UniProtKB/Swiss-Prot
    P30613
    Conserved Domains (2) summary
    TIGR01064
    Location:86570
    pyruv_kin; pyruvate kinase
    cd00288
    Location:85573
    Pyruvate_Kinase; Pyruvate kinase (PK): Large allosteric enzyme that regulates glycolysis through binding of the substrate, phosphoenolpyruvate, and one or more allosteric effectors. Like other allosteric enzymes, PK has a high substrate affinity R state and a low ...
  2. NM_181871.3NP_870986.1  pyruvate kinase PKLR isoform 2

    See proteins identical to NP_870986.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' exon, as compared to variant 1. The resulting isoform (2) has a distinct and shorter N-terminus, as compared to isoform 1. Isoform 2 is also known as type L.
    Source sequence(s)
    AK225947, AL713999, BF110802, M15465
    Consensus CDS
    CCDS44240.1
    UniProtKB/Swiss-Prot
    P30613
    Related
    ENSP00000376214, OTTHUMP00000034069, ENST00000392414, OTTHUMT00000087408
    Conserved Domains (2) summary
    TIGR01064
    Location:55539
    pyruv_kin; pyruvate kinase
    cd00288
    Location:54542
    Pyruvate_Kinase; Pyruvate kinase (PK): Large allosteric enzyme that regulates glycolysis through binding of the substrate, phosphoenolpyruvate, and one or more allosteric effectors. Like other allosteric enzymes, PK has a high substrate affinity R state and a low ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 ALT_REF_LOCI_1

Genomic

  1. NW_003315906.1 

    Range
    94316..106457
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006726212.1XP_006726275.1  

    See proteins identical to XP_006726275.1

    Conserved Domains (2) summary
    TIGR01064
    Location:22506
    pyruv_kin; pyruvate kinase
    cd00288
    Location:21509
    Pyruvate_Kinase; Pyruvate kinase (PK): Large allosteric enzyme that regulates glycolysis through binding of the substrate, phosphoenolpyruvate, and one or more allosteric effectors. Like other allosteric enzymes, PK has a high substrate affinity R state and a low ...

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    155289293..155308723
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245266.2XP_005245323.1  

    Conserved Domains (2) summary
    TIGR01064
    Location:139623
    pyruv_kin; pyruvate kinase
    cd00288
    Location:138626
    Pyruvate_Kinase; Pyruvate kinase (PK): Large allosteric enzyme that regulates glycolysis through binding of the substrate, phosphoenolpyruvate, and one or more allosteric effectors. Like other allosteric enzymes, PK has a high substrate affinity R state and a low ...
  2. XM_006711386.1XP_006711449.1  

    See proteins identical to XP_006711449.1

    Conserved Domains (2) summary
    TIGR01064
    Location:22506
    pyruv_kin; pyruvate kinase
    cd00288
    Location:21509
    Pyruvate_Kinase; Pyruvate kinase (PK): Large allosteric enzyme that regulates glycolysis through binding of the substrate, phosphoenolpyruvate, and one or more allosteric effectors. Like other allosteric enzymes, PK has a high substrate affinity R state and a low ...

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    126621396..126633527
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    156654499..156666666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)