Aliases for PKNOX1 Gene

Aliases for PKNOX1 Gene

  • PBX/Knotted 1 Homeobox 1 2 3 5
  • PREP1 2 3 4
  • Homeobox Protein PKNOX1 3 4
  • Homeobox Protein PREP-1 3 4
  • PBX/Knotted Homeobox 1 3 4
  • Human Homeobox-Containing Protein 3
  • Pbx Regulating Protein-1 3
  • Pkonx1c 3
  • PKNOX1 5

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. Diseases associated with PKNOX1 include Down Syndrome. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Developmental Biology. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is PKNOX2.

UniProtKB/Swiss-Prot Summary for PKNOX1 Gene

Gene Wiki entry for PKNOX1 Gene

Additional gene information for PKNOX1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PKNOX1 Gene

Genomics for PKNOX1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PKNOX1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PKNOX1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PKNOX1

Top Transcription factor binding sites by QIAGEN in the PKNOX1 gene promoter:
  • GATA-1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a

Genomic Locations for PKNOX1 Gene

Genomic Locations for PKNOX1 Gene
59,422 bases
Plus strand
59,072 bases
Plus strand

Genomic View for PKNOX1 Gene

Genes around PKNOX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PKNOX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for PKNOX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PKNOX1 Gene

No data available for DME Specific Peptides for PKNOX1 Gene

Domains & Families for PKNOX1 Gene

Gene Families for PKNOX1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for PKNOX1 Gene

Suggested Antigen Peptide Sequences for PKNOX1 Gene

GenScript: Design optimal peptide antigens:
  • PBX/knotted homeobox 1 (PKNX1_HUMAN)
  • PKNOX1 protein (Q6PKH2_HUMAN)
  • PBX/knotted 1 homeobox 1, isoform CRA_b (Q96I87_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TALE/MEIS homeobox family.
  • 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

UniProtKB/Swiss-Prot Function:
Activates transcription in the presence of PBX1A and HOXA1.
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

Phenotypes From GWAS Catalog for PKNOX1 Gene

Gene Ontology (GO) - Molecular Function for PKNOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IEA,ISM 19274049
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0003700 DNA-binding transcription factor activity TAS 9143494
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

  • Taconic Biosciences Mouse Models for PKNOX1

CRISPR Products

miRNA for PKNOX1 Gene

miRTarBase miRNAs that target PKNOX1
Targeted motifs for PKNOX1 Gene
HOMER Transcription Factor Regulatory Elements motif PKNOX1
  • Consensus sequence: SCTGTCAVTCAV Submotif: canonical Cell Type: ES GEO ID: GSE63282

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PKNOX1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for PKNOX1 Gene

Localization for PKNOX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKNOX1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PKNOX1 gene
Compartment Confidence
nucleus 5
cytoskeleton 3
cytosol 3
extracellular 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PKNOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol HDA --
genes like me logo Genes that share ontologies with PKNOX1: view

Pathways & Interactions for PKNOX1 Gene

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

Pathways by source for PKNOX1 Gene

1 GeneGo (Thomson Reuters) pathway for PKNOX1 Gene
  • Development Role of Activin A in cell differentiation and proliferation

SIGNOR curated interactions for PKNOX1 Gene


Gene Ontology (GO) - Biological Process for PKNOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA,IBA 21873635
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006366 transcription by RNA polymerase II TAS 9479508
GO:0030097 hemopoiesis IEA --
genes like me logo Genes that share ontologies with PKNOX1: view

Drugs & Compounds for PKNOX1 Gene

No Compound Related Data Available

Transcripts for PKNOX1 Gene

mRNA/cDNA for PKNOX1 Gene

14 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PKNOX1

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

No ASD Table

Relevant External Links for PKNOX1 Gene

GeneLoc Exon Structure for

Expression for PKNOX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PKNOX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PKNOX1 Gene

This gene is overexpressed in Blymphocyte (30.7), Testis (18.8), and CD4 Tcells (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PKNOX1 Gene

Protein tissue co-expression partners for PKNOX1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PKNOX1

SOURCE GeneReport for Unigene cluster for PKNOX1 Gene:


mRNA Expression by UniProt/SwissProt for PKNOX1 Gene:

Tissue specificity: Ubiquitous. Isoform 2 is expressed in all examined tissues except in bone marrow.

Evidence on tissue expression from TISSUES for PKNOX1 Gene

  • Liver(4.3)
  • Nervous system(3.8)
  • Blood(2.1)
  • Skin(2)
genes like me logo Genes that share expression patterns with PKNOX1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.77 (n)
(Ornithorhynchus anatinus)
Mammalia PKNOX1 31
  • 96 (a)
(Canis familiaris)
Mammalia PKNOX1 30 31
  • 88.84 (n)
(Mus musculus)
Mammalia Pknox1 30 17 31
  • 87.61 (n)
(Bos Taurus)
Mammalia PKNOX1 30 31
  • 87.61 (n)
(Rattus norvegicus)
Mammalia Pknox1 30
  • 87.23 (n)
(Monodelphis domestica)
Mammalia PKNOX1 31
  • 83 (a)
(Gallus gallus)
Aves PKNOX1 30 31
  • 82.42 (n)
(Anolis carolinensis)
Reptilia PKNOX1 31
  • 75 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.5393 30
(Danio rerio)
Actinopterygii pknox1.2 30 31
  • 68.47 (n)
pknox1.1 30 31 31
  • 67 (a)
(Caenorhabditis elegans)
Secernentea unc-62 31
  • 24 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
Species where no ortholog for PKNOX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Evolutionary constrained regions (ECRs) for PKNOX1: view image

Paralogs for PKNOX1 Gene

Paralogs for PKNOX1 Gene

(11) SIMAP similar genes for PKNOX1 Gene using alignment to 5 proteins:

  • H0YM69_HUMAN
  • Q96I87_HUMAN
genes like me logo Genes that share paralogs with PKNOX1: view

Variants for PKNOX1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PKNOX1 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
rs376883451 A colorectal cancer sample p.Val265Ile
rs17115709 - p.Thr216Ala
rs9976017 - p.Arg126His

Additional dbSNP identifiers (rs#s) for PKNOX1 Gene

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

Variant ID Type Subtype PubMed ID
esv1004750 CNV insertion 20482838
esv1053373 CNV insertion 17803354
esv1545426 CNV insertion 17803354
esv2666871 CNV deletion 23128226
esv3331874 CNV duplication 20981092
esv3584478 CNV gain 24956385
nsv1072608 CNV deletion 25765185
nsv1109442 CNV deletion 24896259
nsv1133528 CNV deletion 24896259
nsv459278 CNV gain 19166990
nsv478533 CNV novel sequence insertion 20440878
nsv510800 CNV deletion 20534489
nsv587657 CNV gain 21841781
nsv587660 CNV loss 21841781
nsv587661 CNV loss 21841781
nsv587662 CNV gain 21841781
nsv834105 CNV loss 17160897

Variation tolerance for PKNOX1 Gene

Residual Variation Intolerance Score: 21.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PKNOX1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for PKNOX1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PKNOX1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
down syndrome
  • trisomy 21
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PKNOX1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PKNOX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 SE (Genomics 1997) 3 4 23
  3. Whole genome association scan for genetic polymorphisms influencing information processing speed. (PMID: 21130836) Luciano M … Deary IJ (Biological psychology 2011) 3 41
  4. Common genetic variation and performance on standardized cognitive tests. (PMID: 20125193) Cirulli ET … Goldstein DB (European journal of human genetics : EJHG 2010) 3 41
  5. Genome-wide association study of biochemical traits in Korcula Island, Croatia. (PMID: 19260141) Zemunik T … Rudan I (Croatian medical journal 2009) 3 41

Products for PKNOX1 Gene

Sources for PKNOX1 Gene