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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PKNOX1 Gene

protein-coding   GIFtS: 59
GCID: GC21P044394

PBX/knotted 1 homeobox 1
 Explore 7 diseases affiliated with
PKNOX1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PKNOX1    

Aliases
for PKNOX1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section
Aliases
PBX/Knotted 1 Homeobox 11 2     PBX/Knotted Homeobox 12 3
PREP11 2 3     Homeobox Protein PKNOX12
Human Homeobox-Containing Protein2 11     Pbx Regulating Protein-12
Homeobox Protein PREP-12 3     Pkonx1c1

External Ids:    HGNC: 90221   Entrez Gene: 53162   Ensembl: ENSG000001601997   OMIM: 6021005   UniProtKB: P553473   

Export aliases for PKNOX1 gene to outside databases

Previous GC identifers: GC21P040942 GC21P043289 GC21P043288 GC21P043267 GC21P029842


Summaries
for PKNOX1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Gene Wiki entry for PKNOX1


Genomic Views
for PKNOX1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.1  NT_011515.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PKNOX1 gene promoter:
         HOXA9   HOXA9B   Meis-1a   Meis-1   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PKNOX1 promoter sequence

   Search SABiosciences Chromatin IP Primers for PKNOX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PKNOX1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
PKNOX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PKNOX1 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P044394:   GeneLoc Nature:405,311-319
Start:
 44,394,620 bp from pter       29,971,758 bp from centromere
End:
 44,454,172 bp from pter 29,999,360 bp from centromere
Size:
 59,553 bases 27,603 bases
Orientation:
 plus strand plus strand

Whole chromosome sequencing:
cDNA sequence: U68727
genomic clones: KB1151C12


Proteins
for PKNOX1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PKNX1_HUMAN, P55347 (See protein sequence)
Recommended Name: Homeobox protein PKNOX1  
Size: 436 amino acids; 47607 Da
Subcellular location: Nucleus (Probable)
Sequence caution: Sequence=AAC51243.1; Type=Erroneous initiation; Sequence=BAA95533.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for PKNOX1:
1X2N (3D)    
Secondary accessions: O00528 Q8IWT7
Alternative splicing: 2 isoforms:  P55347-1   P55347-2   

Explore the universe of human proteins at neXtProt for PKNOX1: NX_P55347

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P55347

    • PKNOX1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004562.2  
    ENSEMBL proteins: 
     ENSP00000291547   ENSP00000453030   ENSP00000453486   ENSP00000452954   ENSP00000453777  
     ENSP00000453171   ENSP00000402243  

    Human Recombinant Protein Products: 
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    Novus Biologicals PKNOX1 Proteins
    Novus Biologicals PKNOX1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PKNOX1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005667transcription factor complex IEA--
    GO:0005737cytoplasm IEA--


    PKNOX1 for ontologies           About GeneDecksing



    PKNOX1 Antibody Products: 
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    Uscn Antibodies for PKNOX1
    ThermoFisher Antibodies for PKNOX1

    Assay Products for PKNOX1: 
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    Uscn ELISAs and CLIAs for PKNOX1

    Protein Domains /
    Families
    for PKNOX1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PKNOX1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR008422 Homeobox_KN_domain
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry P55347

    ProtoNet protein and cluster: P55347

    UniProtKB/Swiss-Prot: PKNX1_HUMAN, P55347
    Similarity: Belongs to the TALE/MEIS homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    Function
    for PKNOX1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:
         Genatlas biochemistry entry for PKNOX1:
    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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: PKNOX1
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PKNOX1
    8/88 QIAGEN miScript miRNA Assays for microRNAs that regulate PKNOX1 (see all 88):
    hsa-miR-100* hsa-miR-607 hsa-miR-106a hsa-miR-219-5p hsa-miR-374a hsa-miR-138-2* hsa-miR-3921 hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmid: PKNOX1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PKNOX1 (see all 7)
    OriGene shRNA RFP: PKNOX1
    OriGene siRNA: PKNOX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PKNOX1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for PKNOX1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PKNOX1 (see all 3)
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    GenScript: all cDNA clones in your preferred vector: PKNOX1 (NM_004571)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PKNOX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PKNOX1 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for PKNOX1
    Search LifeMap BioReagents cell lines for PKNOX1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKNOX1

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity TAS9143494
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0043565sequence-specific DNA binding IEA--


    PKNOX1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Pknox1tm1Ngc for PKNOX1
         15 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Pknox1):
     adipose tissue  cardiovascular system  cellular  embryogenesis  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  integument  liver/biliary system 
     mortality/aging  no phenotypic analysis  normal  pigmentation  vision/eye 

    PKNOX1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PKNOX1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1PKA activation in glucagon signalling
    		Development Role of Activin A in cell differentiation and proliferation0.33
    		Development_Role of Activin A in cell differentiation and proliferation0.33
    2SIDS Susceptibility Pathways
    		SIDS Susceptibility Pathways1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for PKNOX1
        Development Role of Activin A in cell differentiation and proliferation


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

    1 BioSystems Pathway for PKNOX1 
        SIDS Susceptibility Pathways



    PKNOX1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PKNOX1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/22 Interacting proteins for PKNOX1 (P553472, 3 ENSP000002915474) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PBX2P404252, 3, ENSP000003641904MINT-50133 I2D: score=3 STRING: ENSP00000364190
    MEIS1O004703, ENSP000002723694I2D: score=3 STRING: ENSP00000272369
    POU2F1P148593, ENSP000002714114I2D: score=2 STRING: ENSP00000271411
    HOXA1P496393, ENSP000003432464I2D: score=1 STRING: ENSP00000343246
    HOXB6P175093, ENSP000002256484I2D: score=1 STRING: ENSP00000225648
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0006366transcription from RNA polymerase II promoter TAS9479508
    GO:0030097hemopoiesis ----


    PKNOX1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PKNOX1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PKNOX1
    Search CenterWatch for drugs/clinical trials and news about PKNOX1 / PKNX1 

    Transcripts
    for PKNOX1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for PKNOX1 gene: 
    NM_004571.3  

    Unigene Cluster for PKNOX1:

    PBX/knotted 1 homeobox 1
    Hs.431043  [show with all ESTs]
    Unigene Representative Sequence: NM_004571
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000291547(uc002zcq.1 uc011aex.1) ENST00000560728(uc002zcp.1)
    ENST00000418336 ENST00000480179(uc002zcr.3) ENST00000456957 ENST00000560448
    ENST00000557820 ENST00000474336 ENST00000558955 ENST00000432907

    miRNA
    Products:             		 OriGene 3'-UTR Clone: PKNOX1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PKNOX1
    8/88 QIAGEN miScript miRNA Assays for microRNAs that regulate PKNOX1 (see all 88):
    hsa-miR-100* hsa-miR-607 hsa-miR-106a hsa-miR-219-5p hsa-miR-374a hsa-miR-138-2* hsa-miR-3921 hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmid: PKNOX1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PKNOX1 (see all 7)
    OriGene shRNA RFP: PKNOX1
    OriGene siRNA: PKNOX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PKNOX1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PKNOX1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PKNOX1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: PKNOX1 (NM_004571)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PKNOX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PKNOX1 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PKNOX1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PKNOX1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PKNOX1

    Additional cDNA sequence: 

    AK222892.1 AK294794.1 AY142115.1 AY196965.1 AY566249.1 BC000735.2 BC007746.2 U68727.1 
    Y13613.1 

    9 DOTS entries:

    DT.100814669  DT.115250  DT.100814665  DT.100814668  DT.95275868  DT.100800330  DT.121140419  DT.87014426 
    DT.91953582 

    24/218 AceView cDNA sequences (see all 218):

    BC000735 BM700345 BU620391 AA948162 BU629634 AY142115 NM_004571 CR603181 
    AA227042 AW628157 AA354122 BM673103 BM765757 BM772118 AY196965 NM_197976 
    AI880056 CR605067 BC007746 AL553078 AI148365 AW081849 CB996126 BQ441007 

    GeneLoc Exon Structure


    Expression
    for PKNOX1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PKNOX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PKNOX1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbLimb BudLimb Bud Mesenchyme CellsMesoderm
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See PKNOX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PKNOX1

    SOURCE GeneReport for Unigene cluster: Hs.431043

    UniProtKB/Swiss-Prot: PKNX1_HUMAN, P55347
    Tissue specificity: Ubiquitous. Isoform 2 is expressed in all examined tissues except in bone marrow

        SABiosciences Custom PCR Arrays for PKNOX1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PKNOX1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKNOX1

    Orthologs
    for PKNOX1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PKNOX1 gene from 7/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves PKNOX11 PBX/knotted 1 homeobox 1 82.42(n)
    93.58(a)    		   418542  XM_416750.3  XP_416750.3 
    lizard
    (Anolis carolinensis)    		 Reptilia PKNOX16
    		 --
    		 91(a)
    		 1 ↔ 1
    		 3(137352579-137393441)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia Str.53932 Transcribed sequence with moderate similarity to protein more 76.11(n)    CF591150.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii pknox1.12 pbx/knotted 1 homeobox 1.1 75.35(n)   170444  AF382393.1 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 29(a)
    		 1 → many
    		 GroupUn.12(40865-44376)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons EDA296
    BEL16
    (see all 13)    		 homeobox protein BEL1-like protein
    (see all 13)    		 9(a)
    9(a)
    (see all 13)    		 many ↔ many
    many ↔ many
    (see all 13)    		 2(15088832-15092415)
    5(16580044-16584008)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 14)    		 homeodomain protein, putative, expressed
    (see all 14)    		 9(a)
    9(a)
    (see all 14)    		 many ↔ many
    many ↔ many
    (see all 14)    		 1(36443976-36448908)
    3(27050084-27056737)


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

    Paralogs
    for PKNOX1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PKNOX1 gene
    MEIS22  TGIF22  TGIF2LY2  PKNOX22  TGIF2LX2  TGIF12  MEIS12  MEIS32  
    18/19 SIMAP similar genes for PKNOX1 using alignment to 8 protein entries:     PKNX1_HUMAN (see all proteins) (see all similar genes):
    HB103    meis1    PKNOX2    PBX1    PBX2    PBX3
    TGIF1    IRX2    IRX5    MEIS1    IRX4    MKX
    MEIS2    MEIS3    TGIF2    TGIF2LY    MEIS3P1    MEIS3P2

    PKNOX1 for paralogs           About GeneDecksing



    Genomic Variants
    for PKNOX1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1249 NCBI SNPs in PKNOX1 are shown (see all 1249)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 21 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1448798411,2
    		--44392678(+) TTGGAA/GATGGA 1 -- us2k10--------
    rs1870905761,2
    		--44392681(+) GAGATA/GGAGTC 1 -- us2k10--------
    rs1895004951,2
    		--44392696(+) TCGTTG/TCCCAG 1 -- us2k10--------
    rs1808015411,2
    		--44392784(+) CCCAAA/GTAGCT 1 -- us2k10--------
    rs2347491,2
    		C,F,A,--44392868(+) tggccA/Gtgctg 1 -- us2k18Minor allele frequency- G:0.38NA WA CSA 16
    rs9141911,2
    		A,--44392967(+) TTTAGG/ACAATG 1 -- us2k12Minor allele frequency- A:0.08CSA NA 121
    rs1393435111,2
    		--44393067(+) GTGTAC/TAATCA 1 -- us2k10--------
    rs1851233871,2
    		--44393134(+) GCCGGC/GTTCTT 1 -- us2k10--------
    rs1500167971,2
    		--44393190(+) GTTCCG/TACCTC 1 -- us2k10--------
    rs11098191,2
    		C--44393217(-) ggcgtT/Acttag 1 -- us2k12Minor allele frequency- A:0.00NA 4

    HapMap Linkage Disequilibrium report for PKNOX1 (44394620 - 44454172 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for PKNOX1
         1 CNV: 23642
    Human Gene Mutation Database (HGMD): PKNOX1

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    Disorders / Diseases
    for PKNOX1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PKNOX1 for disorders           About GeneDecksing

    OMIM gene information: 602100    OMIM disorders: --

    7 diseases for PKNOX1:    About MalaCards
    down syndrome    acute myeloid leukemia    myeloid leukemia    teratocarcinoma
    leukemia    t-cell leukemia    melanoma

    1 disease from the University of Copenhagen DISEASES database for PKNOX1:
    Down syndrome

    3 Novoseek disease relationships for PKNOX1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia pre-b-cell 88.9 1 15187018 (1)
    down syndrome 30.9 1 9143494 (1)
    leukemia 21.2 3 14764605 (1), 12529389 (1)

    Human Genome Epidemiology (HuGE) Navigator: PKNOX1 (1 document)

    Export disorders for PKNOX1 gene to outside databases

    Publications
    for PKNOX1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PKNOX1 gene, integrated from 9 sources (see all 51):
    (articles sorted by number of sources associating them with PKNOX1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. PKNOX1, a gene encoding PREP1, a new regulator of Pbx activity, maps on human chromosome 21q22.3 and murine chromosome 17B/C. (PubMed id 9479508)1, 2, 3, 9 Berthelsen J.... Blasi F. (1998)
    2. Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3. (PubMed id 9143494)1, 2, 9 Chen H....Antonarakis S.E. (1997)
    3. Molecular cloning for an alternatively splicing cDNA of human PKNOX1 gene and it's expression analysis. (PubMed id 15468914)1, 2 Ni B.... Li H. (2004)
    4. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M....Yaspo M.L. (2000)
    5. PREP1, MEIS1 homolog protein, regulates PF4 gene expression. (PubMed id 12732210)1, 9 Okada Y....Doi T. (2003)
    6. Prep1, a novel functional partner of Pbx proteins. (PubMed id 9482739)1, 9 Berthelsen J....Blasi F. (1998)
    7. Single nucleotide polymorphism in gene encoding transc ription factor Prep1 is associated with HIV-1-associated dementia. (PubMed id 22347417)1 Bol S.M....van 't Wout A.B. (2012)
    8. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    9. Homeodomain transcription factor and tumor suppressor Prep1 is required to maintain genomic stability. (PubMed id 21715654)1 Iotti G....Blasi F. (2011)
    10. Whole genome association scan for genetic polymorphis ms influencing information processing speed. (PubMed id 21130836)1 Luciano M....Deary I.J. (2011)

    External Searches for PKNOX1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PKNOX1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5316 HGNC: 9022 AceView: PKNOX1 Ensembl:ENSG00000160199 euGenes: HUgn5316
    ECgene: PKNOX1 H-InvDB: PKNOX1

    Other Databases showing PKNOX1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PKNOX1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PKNOX1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for PKNOX1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PKNOX1 gene:
    Search GeneIP for patents involving PKNOX1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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