Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PKLR contributors: mct/npt - updated : 01-06-2009
HGNC name pyruvate kinase, liver and RBC
HGNC id 9020
Corresponding disease
PKLR pyruvate kinase deficiency of red cells
PYKH high red cell ATP syndrome with pyruvate kinase hyperactivity
Location 1q22      Physical location : 155.259.085 - 155.271.225
Synonym name
  • R-type/L-type pyruvate kinase
  • red cell/liver pyruvate kinase
  • pyruvate kinase 1
  • pyruvate kinase isozymes R/L
  • Synonym symbol(s) PK1, PKL, RPK, PKR, PKRL
    EC.number 2.7.1.40
    DNA
    TYPE functioning gene
    STRUCTURE 11.60 kb     12 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • a CTGTC motif in the promoter
  • two CAC boxes in the 5'-flanking region upstream the first exon
  • four GATA motifs within 250 bp from the translational initiation codon
  • MAPPING cloned Y linked N status confirmed
    Physical map
    PBXIP1 1q22 pre-B-cell leukemia transcription factor interacting protein 1 PYGO2 1q22 pygopus 2 SHC1 1q21 SHC (Src homology 2 domain containing) transforming protein 1 CKS1B 1q21.2 CDC28 protein kinase regulatory subunit 1B PP591 1q22 FAD-synthetase LENEP 1q22 lens epithelial protein ZFP67 1q21.2 zinc finger protein 67 homolog (mouse) FLJ32934 1q22 hypothetical protein FLJ32934 FLJ32785 1q22 hypothetical protein FLJ32785 ADAM15 1q21.3 a disintegrin and metalloproteinase domain 15 (metargidin) EFNA4 1q21-q22 ephrin-A4 EFNA3 1q21-q22 ephrin-A3 EFNA1 1q21-q22 ephrin-A1 LOC55974 1q22 stromal cell protein DPM3 1q21.2 dolichyl-phosphate mannosyltransferase polypeptide 3 KCP2 TRIM46 1q21-22 tripartite motif-containing 46 MUC1 1q21 mucin 1, transmembrane THBS3 1q21-q23 thrombospondin 3 MTX1 1q21 metaxin 1 LOC388704 1 similar to GBA protein MTX1P 1q21 metaxin 1 pseudogene GBA 1q21 glucosidase, beta; acid (includes glucosylceramidase) C1orf2 1q21 chromosome 1 open reading frame 2 SCAMP3 1q21 secretory carrier membrane protein 3 CLK2 1q21 CDC-like kinase 2 HCN3 1q22 hyperpolarization activated cyclic nucleotide-gated potassium channel 3 PKLR 1q21 pyruvate kinase, liver and RBC FDPS 1q21.2 farnesyl diphosphate synthase (farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase) FLJ35976 1q22 hypothetical protein FLJ35976 RUSC1 1q21-q22 RUN and SH3 domain containing 1 ASH1L 1q21 ash1 (absent, small, or homeotic)-like (Drosophila)
    RNA
    TRANSCRIPTS type messenger
    text with two isoforms, transcribed from a distinct promoter
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 splicing 3035 58.4 543 liver Kanno (1992)
  • also known as type L
  • using an alternate 5' exon as compared to variant 1
  • 11 splicing 3053 61.7 574 erythroytic Kanno (1992)
  • also known as type R
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Skin/Tegumentskin   moderately
    Urinarykidney   predominantly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerthrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to rattus Pklr (92.6 pc)
    homolog to murine Pklr (91.6 pc)
    Homologene
    FAMILY
  • pyruvate kinase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • catalyzing the production of phosphoenolpyruvate from pyruvate and ATP
  • plays an important role in the Tp53-mediated inhibition of translation under conditions of DNA damage (Yoon 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate , energetic
    signaling
    final step of glycolysis
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor,
  • Mg2+
  • K+
  • protein TP53 target gene and plays an important role in the tumor-suppressor function of TP53 (Yoon 2009)
    cell & other
    REGULATION
    induced by TP53 in response to the stress of DNA damage, plays an important role in the tumor-suppressor function of TP53 (Yoon 2009)
    ASSOCIATED DISORDERS
    corresponding disease(s) PKLR , PYKH
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS