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Symbol PKNOX1 contributors: mct - updated : 16-01-2020
HGNC name PBX/knotted 1 homeobox 1
HGNC id 9022
Location 21q22.3      Physical location : 44.394.642 - 44.453.688
Synonym name
  • urokinase enhancer factor 3 component,64kDa
  • Pbx regulating protein 1
  • homeobox protein PREP-1
  • human homeobox-containing protein
  • Synonym symbol(s) PREP1, PBX5, PKHNOX1
    TYPE functioning gene
    STRUCTURE 59.42 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map see ADARB1
    Physical map
    C21orf128 21q22.3 chromosome 21 open reading frame 128 FLJ36335 21q22.3 hypothetical protein FLJ36335 ABCG1 21q22.3 ATP-binding cassette, sub-family G (WHITE), member 1 TFF3 21q22.3 trefoil factor 3 (intestinal) TFF2 21q22.3 trefoil factor 2 (spasmolytic protein 1) TFF1 21q22.3 trefoil factor 1 (breast cancer, estrogen-inducible sequence expressed in) TMPRSS3 21q22.3 transmembrane protease, serine 3 UBASH3A 21q22.3 ubiquitin associated and SH3 domain containing, A TSGA2 21q22.3 testes specific A2 homolog (mouse) SLC37A1 21q22.3 solute carrier family 37 (glycerol-3-phosphate transporter), member 1 PDE9A 21q22.3 phosphodiesterase 9A WDR4 21q22.3 WD repeat domain 4 NDUFV3 21q22.3 NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa PKNOX1 21q22.3 PBX/knotted 1 homeobox 1 CBS 21q22.3 cystathionine-beta-synthase U2AF1 21q22.3 U2(RNU2) small nuclear RNA auxillary factor 1 MRPL51P2 21q22.3 U2(RNU2) small nuclear RNA auxillary factor 1 LOC388829 21 LOC388829 CRYAA 21q22.3 crystallin, alpha A SNF1LK 21q22.3 SNF1-like kinase C21orf125 21 chromosome 21 open reading frame 125 C21orf84 21q22.1 chromosome 21 open reading frame 84 HSF2BP 21q22.3 heat shock transcription factor 2 binding protein RPL31P1 21q22.3 ribosomal protein L31 pseudogene 1 H2BFS 21q22.3 H2B histone family, member S KIAA0179 21q22.3 H2B histone family, member S PDXK 21q22.3 pyridoxal (pyridoxine, vitamin B6) kinase
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 4997 - 436 - 1998 9479508
    10 - 5180 - 319 - 1998 9479508
    11 - 5297 - 435 - 1998 9479508
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemprostate   
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    SystemCellPubmedSpeciesStageRna symbol
    cell lineage
    cell lines
    at STAGE
  • helix-turn-helix,DNA binding domain
  • TALE (three AA loop extension between helices) subfamily and an atypical homeo domain
  • a putative binding motif for EIF4E2
  • a novel motif, flanking the homeodomain (HD) at the C-terminus, is required for cooperativity with PBX1
    intraspecies homolog to PBX1
    homolog to MEIS1
    FAMILY three-amino-acid loop extension (TALE) class homeodomain proteins family
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • PBX regulating protein,involved in growth and morphogenesis
  • is required for a correct and complete hematopoiesis
  • nonredundant roles for this homeodomain protein during different stages of T cell development
  • controls insulin sensitivity through the MYBBP1A-SLC2A44 pathway
  • has a novel cytoplasmic, EIF4E2-dependent, function in the regulation of translation
  • important transcription factor that regulates PF4 gene expression such as MEIS1,through activation of its promoter
  • silencer of insulin signal, and is a transcriptional target of PKNOX1
  • homeodomain transcription factor that is essential in embryonic development and functions in the adult as a tumor suppressor
  • involved in maintaining genomic stability and preventing neoplastic transformation
  • tumor suppressor role of PKNOX1 is associated with the maintenance of genomic stability
  • involvement of PBX1, MEIS1, PKNOX1 during the early development in mammals
  • is a regulator of oxidative phosphorylation components via direct and indirect mechanisms
  • play a critical role in embryonic hematopoiesis, as its insufficiency caused late embryonic lethality associated with defective hematopoiesis and angiogenesis
  • PKNOX1 and PBX1 are homeodomain (HD) transcription factors that play crucial roles in embryonic development
  • prevents premature adipogenesis of mesenchymal progenitors (pMID: 29138456)
  • required for adult spermatogenesis in a germ cell-intrinsic manner
  • PKNOX1-tumor suppressor protects the late-replicating DNA by controlling its replication timing and symmetry
  • is essential for embryogenesis, but in the adult it also acts as a tumor suppressor
  • is required for normal adult mammary gland development, in particular at its branching morphogenesis step
  • is likely a potential regulator of the adipo-osteogenic differentiation of mesenchymal stromal cells
  • CELLULAR PROCESS nucleotide, transcription
    a component
    DNA binding cooperatively with the heterodimer E2A/myogenic transcription factors
    small molecule
  • PKNOX1- EIF4E2 interaction might bridge the 3prime UTR of HOXB4 mRNA to the 5prime cap structure
  • in liver, transcriptional activation of PTPN6 gene by PKNOX1 attenuates insulin signal transduction and reduces glucose storage
  • interaction with MEIS1 (C-terminal domain of MEIS1 confers to PKNOX1 an ectopic transactivating function that promotes leukemogenesis by regulating expression of genes involved in chromatin accessibility and cell cycle progression)
  • PKNOX1 posttranslationally controls the level of MEIS1, decreasing its stability by sequestering PBX1
  • PKNOX1 may likely control hepatic insulin sensitivity by targeting FOXO1 nuclear stability
  • PKNOX1 is a critical regulator of maintenance and subsequent differentiation of the KIT+ stage of spermatogonia in the adult testes
  • by binding SNAI2, PKNOX1 protects it from the proteasomal degradation
  • MN1 participates in transcriptional regulation of target genes through interaction with the transcription factors PBX1, PKNOX1, and ZBTB24
  • cell & other
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    silencing reduces inflammatory response and increases insulin sensitivity in adipose tissue
    constitutional     --low  
    down-regulation affects DNA replication rate, increases the number of simultaneously firing origins and the asymmetry of DNA replication, leading to DNA damage
    constitutional       loss of function
    results in the accumulation of lineage-committed progenitors, increased monocyte/macrophage differentiation and arrested erythroid maturation
    Variant & Polymorphism
    Candidate gene
    Therapy target