Free for academic non-profit institutions. Other users need a Commercial license

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
  • 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 Developmental Biology and SIDS Susceptibility Pathways. 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 MEIS3.

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

Promoters for PKNOX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PKNOX1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PKNOX1 Gene

Chromosome:
21
Start:
42,974,510 bp from pter
End:
43,033,931 bp from pter
Size:
59,422 bases
Orientation:
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:
    P55347-PKNX1_HUMAN
    Recommended name:
    Homeobox protein PKNOX1
    Protein Accession:
    P55347
    Secondary Accessions:
    • O00528
    • Q8IWT7

    Protein attributes for PKNOX1 Gene

    Size:
    436 amino acids
    Molecular mass:
    47607 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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 & 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

P55347

UniProtKB/Swiss-Prot:

PKNX1_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the TALE/MEIS homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
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

Gene Ontology (GO) - Molecular Function for PKNOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 9143494
GO:0005515 protein 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

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

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

COMPARTMENTS
Jensen Localization Image for PKNOX1 Gene COMPARTMENTS Subcellular localization image for PKNOX1 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2

No data available for Gene Ontology (GO) - Cellular Components for PKNOX1 Gene

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:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0030218 erythrocyte differentiation 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

Unigene Clusters for PKNOX1 Gene

PBX/knotted 1 homeobox 1:
Representative Sequences:

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

No ASD Table

Relevant External Links for PKNOX1 Gene

GeneLoc Exon Structure for
PKNOX1
ECgene alternative splicing isoforms for
PKNOX1

Expression for PKNOX1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for PKNOX1 Gene



SOURCE GeneReport for Unigene cluster for PKNOX1 Gene Hs.431043

mRNA Expression by UniProt/SwissProt for PKNOX1 Gene

P55347-PKNX1_HUMAN
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

Protein tissue co-expression partners for PKNOX1 Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia PKNOX1 35
  • 87.61 (n)
  • 94.72 (a)
PKNOX1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PKNOX1 35
  • 88.84 (n)
  • 95.64 (a)
PKNOX1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pknox1 35
  • 87.61 (n)
  • 96.1 (a)
Pknox1 16
Pknox1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PKNOX1 35
  • 99.77 (n)
  • 100 (a)
PKNOX1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pknox1 35
  • 87.23 (n)
  • 95.87 (a)
oppossum
(Monodelphis domestica)
Mammalia PKNOX1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PKNOX1 36
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves PKNOX1 35
  • 82.42 (n)
  • 93.58 (a)
PKNOX1 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PKNOX1 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5393 35
zebrafish
(Danio rerio)
Actinopterygii pknox1.1 35
pknox1.2 35
  • 68.47 (n)
  • 74.18 (a)
pknox1.1 36
  • 67 (a)
OneToMany
pknox1.1 36
  • 67 (a)
OneToMany
pknox1.2 36
  • 70 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-62 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
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

ENSEMBL:
Gene Tree for PKNOX1 (if available)
TreeFam:
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
VAR_036440 A colorectal cancer sample
rs9976017 - 43,013,093(+) TTTGC(A/G)CATTC reference, missense
rs17115709 - 43,018,156(+) CTGTC(A/G)CGGTC reference, missense
rs3403 -- 43,030,828(+) TTTAA(C/T)GAACC utr-variant-3-prime
rs7936 -- 43,033,262(-) GAGCC(C/G)TTAGC utr-variant-3-prime

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

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

HapMap Linkage Disequilibrium report
PKNOX1
Human Gene Mutation Database (HGMD)
PKNOX1

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)
PKNOX1
Human Genome Epidemiology (HuGE) Navigator
PKNOX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PKNOX1

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 23 67
  2. PREP1, MEIS1 homolog protein, regulates PF4 gene expression. (PMID: 12732210) Okada Y. … Doi T. (Biochem. Biophys. Res. Commun. 2003) 3 23
  3. Prep1, a novel functional partner of Pbx proteins. (PMID: 9482739) Berthelsen J. … Blasi F. (EMBO J. 1998) 3 23
  4. 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 23
  5. Genome-wide association study of selenium concentrations. (PMID: 25343990) Cornelis M.C. … He K. (Hum. Mol. Genet. 2015) 3

Products for PKNOX1 Gene

Sources for PKNOX1 Gene

Back to Top

Content