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Aliases for PKNOX1 Gene

Aliases for PKNOX1 Gene

  • PBX/Knotted 1 Homeobox 1 2 3 5
  • 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 Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. 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.

Gene Wiki entry for PKNOX1 Gene

Additional gene information for PKNOX1 Gene

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

Genomics for PKNOX1 Gene

GeneHancer (GH) Regulatory Elements for PKNOX1 Gene

Promoters and enhancers for PKNOX1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J042971 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 655.3 -0.4 -446 5.6 HDGF HNRNPUL1 PKNOX1 CLOCK FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 PKNOX1 WDR4 U2AF1 ENSG00000233754 RRP1B CBS NDUFV3 PIR31692
GH21J042892 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 665.2 -81.2 -81219 2.2 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 POLR2B PKNOX1 NDUFV3 WDR4 RRP1B U2AF1 ENSG00000235772 ENSG00000233754 ERVH48-1 LOC105372817 PIR40183
GH21J043658 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 23.4 +685.7 685663 2.8 HDGF SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 SLC30A9 POLR2B RRP1B HSF2BP PWP2 WDR4 U2AF1 ENSG00000184441 ENSG00000233754 PKNOX1 TRAPPC10 PDXK
GH21J043073 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 15.2 +101.2 101183 3.4 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 ZNF213 CBS WDR4 RRP1B U2AF1 PKNOX1 ENSG00000231867 MRPL51P2 ENSG00000233754 ENSG00000235772 PIR40419
GH21J043105 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 15.2 +133.8 133837 5.1 MLX DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 U2AF1 LOC101928369 WDR4 PWP2 RRP1B PKNOX1 NDUFV3 FRGCA ENSG00000233754 GC21P043111
- 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 UCSC Golden Path with GeneCards custom track

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

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

Antibody Products

  • Boster Bio Antibodies for PKNOX1

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

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

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:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity TAS 9143494
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific 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

  • 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

Clone Products

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
cytosol 3
cytoskeleton 2

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: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

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 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

No data available for SIGNOR curated interactions for PKNOX1 Gene

Drugs & Compounds for PKNOX1 Gene

No Compound Related Data Available

Transcripts for PKNOX1 Gene

mRNA/cDNA for PKNOX1 Gene

Unigene Clusters for PKNOX1 Gene

PBX/knotted 1 homeobox 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of PKNOX1 Gene:


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(4.2)
  • Nervous system(3.5)
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 34 33
  • 99.77 (n)
(Ornithorhynchus anatinus)
Mammalia PKNOX1 34
  • 96 (a)
(Canis familiaris)
Mammalia PKNOX1 34 33
  • 88.84 (n)
(Mus musculus)
Mammalia Pknox1 16 34 33
  • 87.61 (n)
(Bos Taurus)
Mammalia PKNOX1 34 33
  • 87.61 (n)
(Rattus norvegicus)
Mammalia Pknox1 33
  • 87.23 (n)
(Monodelphis domestica)
Mammalia PKNOX1 34
  • 83 (a)
(Gallus gallus)
Aves PKNOX1 34 33
  • 82.42 (n)
(Anolis carolinensis)
Reptilia PKNOX1 34
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5393 33
(Danio rerio)
Actinopterygii pknox1.2 34 33
  • 68.47 (n)
pknox1.1 34 34 33
  • 67 (a)
(Caenorhabditis elegans)
Secernentea unc-62 34
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
Species where no ortholog for PKNOX1 was found in the sources mined by GeneCards:
  • 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)
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 from dbSNP and Humsavar for PKNOX1 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs376883451 A colorectal cancer sample 43,021,375(+) G/A coding_sequence_variant, missense_variant
rs1000082680 -- 43,005,178(+) C/T intron_variant
rs1000170550 -- 42,982,547(+) T/C/G intron_variant
rs1000191057 -- 42,980,829(+) T/C intron_variant
rs1000311611 -- 42,988,752(+) T/C intron_variant

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

Additional Disease Information for PKNOX1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PKNOX1 Gene.

No data available for MalaCards , 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 22 58
  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 22 58
  3. Whole genome association scan for genetic polymorphisms influencing information processing speed. (PMID: 21130836) Luciano M … Deary IJ (Biological psychology 2011) 3 44 58
  4. Common genetic variation and performance on standardized cognitive tests. (PMID: 20125193) Cirulli ET … Goldstein DB (European journal of human genetics : EJHG 2010) 3 44 58
  5. Genome-wide association study of biochemical traits in Korcula Island, Croatia. (PMID: 19260141) Zemunik T … Rudan I (Croatian medical journal 2009) 3 44 58

Products for PKNOX1 Gene

Sources for PKNOX1 Gene

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