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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 SIDS Susceptibility Pathways and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is PKNOX2.

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

Enhancers for PKNOX1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21F042995 0.6 Ensembl ENCODE 25.2 +22.5 22461 2.2 ZSCAN5A KLF1 BHLHE40 REST MNT ZFHX2 KLF9 KLF7 FOS MAFK PKNOX1 CBS GC21P042994 PIR59099 PIR40419
GH21F043024 0.5 ENCODE 23.4 +51.0 50964 2.9 CBX3 ARID4B RAD21 ZNF48 RARA ZNF121 THAP11 SMARCA5 REST ETV4 PKNOX1 CBS U2AF1 FRGCA PIR40419 GC21P042994 PIR59099
GH21F042949 0.6 Ensembl 21.3 -24.9 -24910 0.4 INSM2 ZIC2 BCL11B ZFHX2 ZNF547 KLF7 THAP11 EGR2 GATAD2A ZBTB10 PKNOX1 CBS U2AF1 MIR5692B ERVH48-1
GH21F042935 1 FANTOM5 Ensembl ENCODE 16.6 -35.4 -35412 7.4 ZFP64 ZNF143 FOS ZNF263 TBX21 ZNF592 CREB3 MEF2D SMARCA4 PBX2 NDUFV3 PKNOX1 ENSG00000224100 FRGCA WDR4 CBS PDXK ERVH48-1 MIR5692B
GH21F042983 0.2 Ensembl 12.4 +8.9 8891 0.4 MAZ MNT ZNF670 OSR2 PATZ1 KDM1A WT1 ZNF280C ZXDB PKNOX1 GC21P042994 PIR59099
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PKNOX1 on UCSC Golden Path with GeneCards custom track

Promoters for PKNOX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000614370 590 2201 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 FOS

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

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

No data available for DME Specific Peptides for PKNOX1 Gene

Domains & Families for PKNOX1 Gene

Gene Families for PKNOX1 Gene

Protein Domains for PKNOX1 Gene

Suggested Antigen Peptide Sequences for PKNOX1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the TALE/MEIS homeobox family.
  • 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:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 9143494
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IEA --
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

  • Taconic Biosciences Mouse Models for 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

Clone Products

Flow Cytometry 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

Jensen Localization Image for PKNOX1 Gene COMPARTMENTS Subcellular localization image for PKNOX1 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 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 --
GO:0005829 cytosol IDA --
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 from RNA polymerase II promoter IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA,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

Transcripts for PKNOX1 Gene

Unigene Clusters for PKNOX1 Gene

PBX/knotted 1 homeobox 1:
Representative Sequences:

Inhibitory RNA Products

Clone 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 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, PaxDb, 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.
genes like me logo Genes that share expression patterns with PKNOX1: view

Primer 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 34 35
  • 99.77 (n)
(Ornithorhynchus anatinus)
Mammalia PKNOX1 35
  • 96 (a)
(Canis familiaris)
Mammalia PKNOX1 34 35
  • 88.84 (n)
(Bos Taurus)
Mammalia PKNOX1 34 35
  • 87.61 (n)
(Mus musculus)
Mammalia Pknox1 34 16 35
  • 87.61 (n)
(Rattus norvegicus)
Mammalia Pknox1 34
  • 87.23 (n)
(Monodelphis domestica)
Mammalia PKNOX1 35
  • 83 (a)
(Gallus gallus)
Aves PKNOX1 34 35
  • 82.42 (n)
(Anolis carolinensis)
Reptilia PKNOX1 35
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5393 34
(Danio rerio)
Actinopterygii pknox1.2 34 35
  • 68.47 (n)
pknox1.1 34 35 35
  • 67 (a)
(Caenorhabditis elegans)
Secernentea unc-62 35
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for PKNOX1 Gene

Paralogs for PKNOX1 Gene

(11) 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
rs376883451 A colorectal cancer sample 43,021,375(+) GGGGC(A/G)TCCTG reference, missense
rs10531492 -- 42,976,221(+) TACTT(-/AA)AGTGT intron-variant
rs10531493 -- 42,976,266(+) GTTAA(-/TTAA)AAAAT intron-variant
rs1064284 -- 43,030,192(+) ATATA(A/G)AAGAG utr-variant-3-prime
rs10654487 -- 42,984,909(+) TGCCT(-/GA)GAGAG 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)

Relevant External Links 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

Relevant External Links for PKNOX1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) 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 64
  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 22 64
  3. Whole genome association scan for genetic polymorphisms influencing information processing speed. (PMID: 21130836) Luciano M. … Deary I.J. (Biol Psychol 2011) 3 46 64
  4. Common genetic variation and performance on standardized cognitive tests. (PMID: 20125193) Cirulli E.T. … Goldstein D.B. (Eur. J. Hum. Genet. 2010) 3 46 64
  5. Genome-wide association study of biochemical traits in Korcula Island, Croatia. (PMID: 19260141) Zemunik T. … Rudan I. (Croat. Med. J. 2009) 3 46 64

Products for PKNOX1 Gene

Sources for PKNOX1 Gene

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