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Aliases for PKNOX1 Gene

Aliases for PKNOX1 Gene

  • PBX/Knotted 1 Homeobox 1 2 3
  • Homeobox Protein PREP-1 3 4
  • PBX/Knotted Homeobox 1 3 4
  • PREP1 3 4
  • Human Homeobox-Containing Protein 3
  • Pbx Regulating Protein-1 3
  • Homeobox Protein PKNOX1 3
  • Pkonx1c 3

External Ids for PKNOX1 Gene

Previous GeneCards Identifiers for PKNOX1 Gene

  • GC21P040942
  • GC21P043289
  • GC21P043288
  • GC21P043267
  • GC21P044394
  • GC21P029842

Summaries for PKNOX1 Gene

GeneCards Summary for PKNOX1 Gene

PKNOX1 (PBX/Knotted 1 Homeobox 1) is a Protein Coding gene. Among its related pathways are SIDS Susceptibility Pathways and Ca-dependent events. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is TGIF2LY.

Gene Wiki entry for PKNOX1 Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PKNOX1 Gene

Genomics for PKNOX1 Gene

Regulatory Elements for PKNOX1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PKNOX1 Gene

42,974,510 bp from pter
43,033,931 bp from pter
59,422 bases
Plus strand

Genomic View for PKNOX1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PKNOX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PKNOX1 Gene

Proteins for PKNOX1 Gene

  • Protein details for PKNOX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Homeobox protein PKNOX1
    Protein Accession:
    Secondary Accessions:
    • O00528
    • Q8IWT7

    Protein attributes for PKNOX1 Gene

    436 amino acids
    Molecular mass:
    47607 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAC51243.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA95533.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PKNOX1 Gene

    Alternative splice isoforms for PKNOX1 Gene


neXtProt entry for PKNOX1 Gene

Proteomics data for PKNOX1 Gene at MOPED

Post-translational modifications for PKNOX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PKNOX1 Gene

Antibody Products

No data available for DME Specific Peptides for PKNOX1 Gene

Domains for PKNOX1 Gene

Gene Families for PKNOX1 Gene

  • TALE :Homeoboxes / TALE class

Protein Domains for PKNOX1 Gene

Suggested Antigen Peptide Sequences for PKNOX1 Gene

Graphical View of Domain Structure for InterPro Entry



  • P55347
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the TALE/MEIS homeobox family.
genes like me logo Genes that share domains with PKNOX1: view

Function for PKNOX1 Gene

Molecular function for PKNOX1 Gene

GENATLAS Biochemistry: PBX regulating protein,64kDa,protein with an atypical homeo domain,homologous to PBX1,expressed in many tissues,involved in growth and morphogenesis,binding DNA cooperatively with the heterodimer E2A/myogenic transcription factors

Gene Ontology (GO) - Molecular Function for PKNOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity TAS 9143494
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IEA --
GO:0005515 protein binding --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with PKNOX1: view
genes like me logo Genes that share phenotypes with PKNOX1: view

Animal Models for PKNOX1 Gene

MGI Knock Outs for PKNOX1:

Animal Model Products

CRISPR Products

miRNA for PKNOX1 Gene

miRTarBase miRNAs that target PKNOX1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PKNOX1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for PKNOX1 Gene

Localization for PKNOX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKNOX1 Gene

Subcellular locations from

Jensen Localization Image for PKNOX1 Gene COMPARTMENTS Subcellular localization image for PKNOX1 gene
Compartment Confidence
nucleus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for PKNOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with PKNOX1: view

Pathways for PKNOX1 Gene

genes like me logo Genes that share pathways with PKNOX1: view

Pathways by source for PKNOX1 Gene

1 BioSystems pathway for PKNOX1 Gene
1 GeneGo (Thomson Reuters) pathway for PKNOX1 Gene

Gene Ontology (GO) - Biological Process for PKNOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0030097 hemopoiesis --
genes like me logo Genes that share ontologies with PKNOX1: view

Transcripts for PKNOX1 Gene

Unigene Clusters for PKNOX1 Gene

PBX/knotted 1 homeobox 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PKNOX1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PKNOX1 Gene

No ASD Table

Relevant External Links for PKNOX1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PKNOX1 Gene

mRNA expression in normal human tissues for PKNOX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PKNOX1 Gene

SOURCE GeneReport for Unigene cluster for PKNOX1 Gene Hs.431043

mRNA Expression by UniProt/SwissProt for PKNOX1 Gene

Tissue specificity: Ubiquitous. Isoform 2 is expressed in all examined tissues except in bone marrow.
genes like me logo Genes that share expressions with PKNOX1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PKNOX1 Gene

Orthologs for PKNOX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PKNOX1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PKNOX1 35
  • 99.77 (n)
  • 100 (a)
  • 100 (a)
(Bos Taurus)
Mammalia PKNOX1 35
  • 87.61 (n)
  • 94.72 (a)
  • 95 (a)
(Canis familiaris)
Mammalia PKNOX1 35
  • 88.84 (n)
  • 95.64 (a)
  • 96 (a)
(Mus musculus)
Mammalia Pknox1 35
  • 87.61 (n)
  • 96.1 (a)
Pknox1 16
Pknox1 36
  • 96 (a)
(Monodelphis domestica)
Mammalia PKNOX1 36
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia PKNOX1 36
  • 96 (a)
(Rattus norvegicus)
Mammalia Pknox1 35
  • 87.23 (n)
  • 95.87 (a)
(Gallus gallus)
Aves PKNOX1 35
  • 82.42 (n)
  • 93.58 (a)
  • 94 (a)
(Anolis carolinensis)
Reptilia PKNOX1 36
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5393 35
(Danio rerio)
Actinopterygii pknox1.1 35
pknox1.1 36
  • 67 (a)
pknox1.1 36
  • 67 (a)
pknox1.2 35
  • 68.47 (n)
  • 74.18 (a)
pknox1.2 36
  • 70 (a)
(Caenorhabditis elegans)
Secernentea unc-62 36
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
Species with no ortholog for PKNOX1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PKNOX1 Gene

Gene Tree for PKNOX1 (if available)
Gene Tree for PKNOX1 (if available)

Paralogs for PKNOX1 Gene

Paralogs for PKNOX1 Gene

Selected SIMAP similar genes for PKNOX1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PKNOX1: view

Variants for PKNOX1 Gene

Sequence variations from dbSNP and Humsavar for PKNOX1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
rs3403 -- 43,030,828(+) TTTAA(C/T)GAACC utr-variant-3-prime
rs7936 -- 43,033,262(-) GAGCC(C/G)TTAGC utr-variant-3-prime
rs170916 -- 43,028,653(-) AAGAC(A/C/G)CTATA intron-variant
rs170917 -- 42,998,211(+) gagag(A/G)agcat intron-variant
rs170918 -- 43,008,237(+) agcaa(A/G)tctgc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PKNOX1 Gene

Variant ID Type Subtype PubMed ID
esv2666871 CNV Deletion 23128226
nsv913812 CNV Gain 21882294
nsv913820 CNV Gain 21882294
nsv834105 CNV Loss 17160897
nsv913821 CNV Loss 21882294
nsv913822 CNV Loss 21882294
nsv913823 CNV Loss 21882294
esv1004750 CNV Insertion 20482838
esv1053373 CNV Insertion 17803354
nsv459278 CNV Gain 19166990
esv1545426 CNV Insertion 17803354
nsv510800 CNV Loss 20534489
nsv913824 CNV Loss 21882294

Relevant External Links for PKNOX1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PKNOX1 Gene

Disorders for PKNOX1 Gene

(1) University of Copenhagen DISEASES for PKNOX1 Gene

(3) Novoseek inferred disease relationships for PKNOX1 Gene

Disease -log(P) Hits PubMed IDs
leukemia pre-b-cell 88.9 1
down syndrome 30.9 1
leukemia 21.2 2

Relevant External Links for PKNOX1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with PKNOX1: view

No data available for UniProtKB/Swiss-Prot for PKNOX1 Gene

Publications for PKNOX1 Gene

  1. PKNOX1, a gene encoding PREP1, a new regulator of Pbx activity, maps on human chromosome 21q22.3 and murine chromosome 17B/C. (PMID: 9479508) Berthelsen J. … Blasi F. (Genomics 1998) 2 3 4 23
  2. Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3. (PMID: 9143494) Chen H. … Antonarakis S.E. (Genomics 1997) 3 4 23
  3. Common genetic variation and performance on standardized cognitive tests. (PMID: 20125193) Cirulli E.T. … Goldstein D.B. (Eur. J. Hum. Genet. 2010) 3 48
  4. Molecular cloning for an alternatively splicing cDNA of human PKNOX1 gene and it's expression analysis. (PMID: 15468914) Ni B. … Li H. (Yi Chuan Xue Bao 2004) 3 4
  5. Genome-wide association study of biochemical traits in Korcula Island, Croatia. (PMID: 19260141) Zemunik T. … Rudan I. (Croat. Med. J. 2009) 3 48

Products for PKNOX1 Gene

Sources for PKNOX1 Gene

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