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

    Gene ID: 5313, updated on 4-Sep-2016
    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]
    Orthologs
    Location:
    1q21
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (155289293..155301434, 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 of red cells
    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
     
    kinase activity 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 EXP
    Inferred from Experiment
    more info
    PubMed 
    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
     
    canonical glycolysis TAS
    Traceable Author Statement
    more info
     
    cellular response to insulin stimulus IEA
    Inferred from Electronic Annotation
    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
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    pyruvate kinase PKLR
    Names
    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 blood cell
    red cell/liver pyruvate kinase
    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 RefSeqGene

      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 identical proteins and their annotated locations for 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
      Related
      ENSP00000339933, OTTHUMP00000034068, ENST00000342741, OTTHUMT00000087407
      Conserved Domains (2) summary
      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 ...
      TIGR01064
      Location:86570
      pyruv_kin; pyruvate kinase
    2. NM_181871.3NP_870986.1  pyruvate kinase PKLR isoform 2

      See identical proteins and their annotated locations for 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
      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 ...
      TIGR01064
      Location:55539
      pyruv_kin; pyruvate kinase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      155289293..155301434 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006711386.3XP_006711449.1  

      See identical proteins and their annotated locations for XP_006711449.1

      Conserved Domains (2) summary
      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 ...
      TIGR01064
      Location:22506
      pyruv_kin; pyruvate kinase
    2. XM_011509640.2XP_011507942.1  

      See identical proteins and their annotated locations for XP_011507942.1

      Conserved Domains (2) summary
      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 ...
      TIGR01064
      Location:22506
      pyruv_kin; pyruvate kinase
    3. XM_017001493.1XP_016856982.1  

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NW_003315906.1 Reference GRCh38.p7 ALT_REF_LOCI_1

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

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