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

PBX1 Gene

protein-coding   GIFtS: 64
GCID: GC01P164524

pre-B-cell leukemia homeobox 1

(Previous name: pre-B-cell leukemia transcription factor 1 )
 Explore 54 diseases affiliated with
PBX1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PBX1    

Aliases
for PBX1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Pre-B-Cell Leukemia Homeobox 11 2
Pre-B-Cell Leukemia Transcription Factor 11 2
Homeobox Protein PBX12 3
Homeobox Protein PRL2 3
PRL3

External Ids:    HGNC: 86321   Entrez Gene: 50872   Ensembl: ENSG000001856307   OMIM: 1763105   UniProtKB: P404243   

Export aliases for PBX1 gene to outside databases

Previous GC identifers: GC01P162163 GC01P160179 GC01P161224 GC01P161716 GC01P161260 GC01P162795 GC01P135774


Summaries
for PBX1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PBX1:
This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice
suggest that this gene may be involved in the regulation of osteogenesis, and required for skeletal patterning and
programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-cell
acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain of E2A is replaced by the
DNA binding domain of this protein, transforms cells by constitutively activating transcription of genes regulated by
the PBX protein family. Alternatively spliced transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Mar 2011)

UniProtKB/Swiss-Prot: PBX1_HUMAN, P40424
Function: Binds the sequence 5'-ATCAATCAA-3'. Acts as a transcriptional activator of PF4 in complex with MEIS1.
Converted into a potent transcriptional activator by the (1;19) translocation. May have a role in steroidogenesis and,
subsequently, sexual development and differentiation. Isoform PBX1b as part of a PDX1:PBX1b:MEIS2b complex in
pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the
enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element.
Probably in complex with MEIS2, is involved in transcriptional regulation by KLF4

Gene Wiki entry for PBX1


Genomic Views
for PBX1 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)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PBX1 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PBX1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PBX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PBX1


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

Entrez Gene cytogenetic band: 1q23   Ensembl cytogenetic band:  1q23.3   HGNC cytogenetic band: 1q23.3

PBX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PBX1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P164524:  view genomic region     (about GC identifiers)

Start:
 164,524,821 bp from pter      End:
 164,868,533 bp from pter
Size:
 343,713 bases      Orientation:
 plus strand

Proteins
for PBX1 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: PBX1_HUMAN, P40424 (See protein sequence)
Recommended Name: Pre-B-cell leukemia transcription factor 1  
Size: 430 amino acids; 46626 Da
Subunit: Forms a heterodimer with MEIS1 which binds DNA including a cAMP-responsive sequence in CYP17. Also forms
heterotrimers with MEIS1 and a number of HOX proteins including HOXA9, HOXD4, HOXD9 and HOXD10. Interacts with PBXIP1
and TLX1. Isoform PBX1a interacts with MEIS2 isoform 4, SP1, SP3 and KLF4. Isoform PBX1b is part of a
PDX1:PBX1b:MEIS2b complex; PBX1b recruits Meis2B to the complex
Subcellular location: Nucleus (By similarity)
Sequence caution: Sequence=AAA36764.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for PBX1:
1B72 (3D)        1PUF (3D)    
Secondary accessions: B4DSC1 F5H4U9 Q5T488
Alternative splicing: 3 isoforms:  P40424-1   P40424-2   P40424-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PBX1: NX_P40424

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P40424

    • PBX1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001191890.1  NP_001191892.1  NP_002576.1  

    ENSEMBL proteins: 
     ENSP00000341455   ENSP00000405890   ENSP00000453188   ENSP00000356872   ENSP00000452804  
     ENSP00000453130   ENSP00000452869   ENSP00000452891   ENSP00000452727   ENSP00000453163  
     ENSP00000453331   ENSP00000453262   ENSP00000439943   ENSP00000384856   ENSP00000440869  

    Human Recombinant Protein Products: 
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    OriGene Purified Protein: PBX1
    OriGene Protein Over-expression Lysate: PBX1
    OriGene Custom Protein Services for PBX1 
    GenScript Custom Purified and Recombinant Proteins Services for PBX1
    Novus Biologicals PBX1 Protein
    Novus Biologicals PBX1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PBX1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005667transcription factor complex IEA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA18973687


    PBX1 for ontologies           About GeneDecksing



    PBX1 Antibody Products: 
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    Uscn Antibodies for PBX1
    ThermoFisher Antibodies for PBX1

    Assay Products for PBX1: 
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    Browse OriGene Fluorogenic Cell Assay Kits
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    Uscn ELISAs and CLIAs for PBX1

    Protein Domains /
    Families
    for PBX1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PBX1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR005542 PBX
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry P40424

    ProtoNet protein and cluster: P40424

    2 Blocks protein families:
    IPB000047 Lambda and other repressor helix-turn-helix signature
    IPB005542 PBX domain


    UniProtKB/Swiss-Prot: PBX1_HUMAN, P40424
    Similarity: Belongs to the TALE/PBX homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    Function
    for PBX1 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:

         UniProtKB/Swiss-Prot: PBX1_HUMAN, P40424
    Function: Binds the sequence 5'-ATCAATCAA-3'. Acts as a transcriptional activator of PF4 in complex with MEIS1.
    Converted into a potent transcriptional activator by the (1;19) translocation. May have a role in steroidogenesis and,
    subsequently, sexual development and differentiation. Isoform PBX1b as part of a PDX1:PBX1b:MEIS2b complex in
    pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the
    enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element.
    Probably in complex with MEIS2, is involved in transcriptional regulation by KLF4

         Genatlas biochemistry entry for PBX1:
    transcription factor,with an atypical homeo domain,homologous to mouse Meis1 (myeloid ecotropic viral integration site
    1),expressed in most tissues,fetal and adult,binding DNA cooperatively with the heterodimer E2A/myogenic transcription
    factors,involved in pre-B cell leukemia and in acute myelogenous leukemia

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PBX1
    8/109 QIAGEN miScript miRNA Assays for microRNAs that regulate PBX1 (see all 109):
    hsa-miR-3130-5p hsa-miR-3607-3p hsa-miR-3152-3p hsa-miR-607 hsa-miR-300 hsa-miR-342-3p hsa-miR-3613-3p hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmid: PBX1 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 PBX1 (see all 7)
    OriGene shRNA RFP: PBX1
    OriGene siRNA: PBX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PBX1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for PBX1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PBX1 (see all 6)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PBX1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 3): PBX1 (NM_002585)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PBX1 

    Cell Line
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    Search LifeMap BioReagents cell lines for PBX1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PBX1

    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 IDA10052460
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI19559479
    GO:0008134transcription factor binding IPI15684392
    GO:0043565sequence-specific DNA binding IEA--


    PBX1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for PBX1: Pbx1tm2.1Mlc Pbx1tm1.2Koss Pbx1tm1.1Febe Pbx1tm1Mlc
         15/22 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Pbx1) (see all 22):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  liver/biliary system 

    PBX1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PBX1 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
    2Lymphocyte Signaling
    		Lymphocyte Signaling1.00
    3Transcription factors in neurogenesis
    		Transcription factors in neurogenesis1.00
    4SIDS Susceptibility Pathways
    		SIDS Susceptibility Pathways1.00
    5Glucocorticoid receptor regulatory network
    		Glucocorticoid receptor regulatory network1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for PBX1
        Development Role of Activin A in cell differentiation and proliferation
    Transcription factors in neurogenesis


    1 Cell Signaling Technology (CST) Pathway for PBX1
        Lymphocyte Signaling

    1 GeneGo (Thomson Reuters) Pathway for PBX1
        Development Role of Activin A in cell differentiation and proliferation

    2 BioSystems Pathways for PBX1 
        SIDS Susceptibility Pathways
    Glucocorticoid receptor regulatory network



    PBX1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PBX1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/49 Interacting proteins for PBX1 (P404241, 2, 3 ENSP000004058904) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PBX2P404252, 3, ENSP000003641904MINT-50161 I2D: score=2 STRING: ENSP00000364190
    MEIS2O147702, 3, ENSP000003262964MINT-7718083 MINT-7718330 MINT-7718353 MINT-7718110 MINT-7718300 MINT-7718256 MINT-7718172 I2D: score=2 STRING: ENSP00000326296
    HOXB1P146533, ENSP000003551404I2D: score=5 STRING: ENSP00000355140
    PKNOX1P553473, ENSP000002915474I2D: score=4 STRING: ENSP00000291547
    HOXB8P174813, ENSP000002391444I2D: score=3 STRING: ENSP00000239144
    About this table

    Gene Ontology (GO): 5/23 biological process terms (GO ID links to tree view) (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001655urogenital system development ----
    GO:0001658branching involved in ureteric bud morphogenesis IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006694steroid biosynthetic process IEA--


    PBX1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PBX1 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

    PBX1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PBX1

    1 HMDB Compound for PBX1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    10/24 Novoseek chemical compound relationships for PBX1 gene (see all 24)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hexarelin 85.1 29 11888836 (4), 11081154 (3), 9186817 (3), 11022186 (2) (see all 10)
    ghrp 75.2 2 2108187 (1), 9435437 (1)
    acth 58.6 32 11888836 (6), 9186817 (4), 11022186 (3), 10195374 (3) (see all 16)
    17-hydroxyprogesterone 50.7 5 11591421 (1), 14967374 (1), 17980364 (1), 10762292 (1) (see all 5)
    testosterone 43.7 19 16637071 (2), 7925123 (1), 15498182 (1), 7584521 (1) (see all 14)
    androstenedione 42 4 11591421 (1), 16650418 (1), 15516780 (1), 16460870 (1)
    glucose 35.4 28 8961128 (4), 9364253 (3), 15642799 (2), 17889857 (2) (see all 17)
    dehydroepiandrosterone sulfate 27.5 1 10594527 (1)
    metoclopramide 18.9 2 15642799 (1), 1815118 (1)
    tyrosine 16.7 4 8137766 (1), 10353695 (1), 9322918 (1), 11443173 (1)

    Search CenterWatch for drugs/clinical trials and news about PBX1 

    Transcripts
    for PBX1 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 PBX1 gene (3 alternative transcripts): 
    NM_001204961.1  NM_001204963.1  NM_002585.3  

    Unigene Cluster for PBX1:

    Pre-B-cell leukemia homeobox 1
    Hs.557097  [show with all ESTs]
    Unigene Representative Sequence: CR749446
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000467023 ENST00000485769 ENST00000340699 ENST00000420696(uc001gct.3 uc010pku.2 uc001gcs.3 uc010pkv.2)
    ENST00000498497 ENST00000559240 ENST00000367897 ENST00000559578 ENST00000560469
    ENST00000496120 ENST00000468104 ENST00000560641 ENST00000474046(uc001gcu.1)
    ENST00000482110 ENST00000558796 ENST00000558837 ENST00000559560 ENST00000465089


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PBX1
    8/109 QIAGEN miScript miRNA Assays for microRNAs that regulate PBX1 (see all 109):
    hsa-miR-3130-5p hsa-miR-3607-3p hsa-miR-3152-3p hsa-miR-607 hsa-miR-300 hsa-miR-342-3p hsa-miR-3613-3p hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmid: PBX1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AK022520.1 AK022962.1 AK291415.1 AK299673.1 AK301540.1 AL049381.1 BC044624.1 BC101578.1 
    BC143435.1 BC143451.1 BT006705.1 BX538333.1 BX647313.1 CR749446.1 M31170.1 M86546.1 

    23 DOTS entries:

    DT.75124419  DT.95374674  DT.121457852  DT.209510  DT.100746154  DT.92027649  DT.95374673  DT.452633 
    DT.95150785  DT.100821728  DT.121457863  DT.100821729  DT.121643110  DT.100647181  DT.95374667  DT.121457803 
    DT.91918528  DT.92045099  DT.92059751  DT.92441618  DT.121060466  DT.121457891  DT.40254496 

    24/350 AceView cDNA sequences (see all 350):

    AW134773 AI638672 AU130225 BM069787 AA033676 AI208369 CA487452 AA083883 
    CB050226 BQ021875 AU123783 AK022520 BF110243 BX641920 AI554635 CK904753 
    CF552365 BQ641658 BE669859 AA324597 AW135367 BM927093 AI536780 N55336 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for PBX1 (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c
    SP1:                                                                          -                                 
    SP2:                                                                          -     -                           
    SP3:        -                 -                                                                                 
    SP4:                                                                                                            
    SP5:                          -                                                                                 


    ECgene alternative splicing isoforms for PBX1

    Expression
    for PBX1 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

    PBX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAGGAAGAAG

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

    PBX1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/18 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 18) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbLimb BudLimb Bud Mesenchyme CellsMesoderm
    PancreasPancreatic DuctsDuct CellsPancreas
    BoneAutopod Epiphyseal EndChondrocytesBone, Cartilage
    BoneStylopod Epiphyseal EndChondrocytesBone, Cartilage
    BoneZeugopod Epiphyseal EndChondrocytesBone, Cartilage
    Lateral Plate MesodermLateral Plate MesodermLateral Plate Mesoderm CellsMesoderm
    LimbAutopodMesenchymal Condensate CellsBone, Cartilage
    LimbStylopodMesenchymal Condensate CellsBone, Cartilage
    LimbZeugopodMesenchymal Condensate CellsBone, Cartilage
    PancreasDorsal Pancreatic MesenchymeDorsal Pancreatic Mesenchymal CellsMesoderm
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ progenitor SM22 (Embryonic Progenitor Cell)
    Embryoid bodies (Generation of adipoc...)
    Posterior foregut-like cells (A scalable, suspensi...)

    See PBX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PBX1

    SOURCE GeneReport for Unigene cluster: Hs.557097

    UniProtKB/Swiss-Prot: PBX1_HUMAN, P40424
    Tissue specificity: Expressed in all tissues except in cells of the B and T lineage

        SABiosciences Expression via Pathway-Focused PCR Array including PBX1: 
              Notch Signaling Targets in human mouse rat

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    Orthologs
    for PBX1 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 animals.

    Orthologs for PBX1 gene from 6/24 species (see all 24)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves PBX11 pre-B-cell leukemia homeobox 1 89.15(n)
    98.37(a)    		   395505  NM_204746.1  NP_990077.1 
    lizard
    (Anolis carolinensis)    		 Reptilia PBX16
    		 --
    		 97(a)
    		 1 ↔ 1
    		 GL343405.1(821423-873799)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.95632 Xenopus laevis pre-B-cell leukemia transcription factor more 85.14(n)    AF480430.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii pbx1a2 pre-B-cell leukemia transcription factor 1a 80.4(n)   58138  AJ245962.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta exd1 , 3 brain development specific RNA polymerase II
    transcription more3
    extradenticle1    		 80(a)3
    66.76(n)1
    76.32(a)1    		   14A53
    325671  NM_078636.41  NP_523360.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea ceh-201 , 3 Protein CEH-201 64(a)
    (best of 2)3
    60.34(n)1
    64.48(a)1    		   III(7051642-7053281)3
    35655451  NM_001027384.21  NP_001022555.11 


    ENSEMBL Gene Tree for PBX1 (if available)
    TreeFam Gene Tree for PBX1 (if available) 

    Paralogs
    for PBX1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PBX1 gene
    PBX32  PBX22  PBX42  
    8 SIMAP similar genes for PBX1 using alignment to 11 protein entries:     PBX1_HUMAN (see all proteins):
    DKFZp686B09108    E2A/PBX1 fusion    PBX3    PBX2    PBX4    PKNOX1
    TGIF1    WUGSC

    PBX1 for paralogs           About GeneDecksing



    Genomic Variants
    for PBX1 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

    10/4873 NCBI SNPs in PBX1 are shown (see all 4873)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs560538001,2
    		C,--135772811(+) TTTATT/CTGAGG 3 -- us2k12Minor allele frequency- C:0.07WA 120
    rs782516631,2
    		C,F,--135772976(+) CTGGAC/TATTTC 3 -- us2k11Minor allele frequency- T:0.12WA 118
    rs120717361,2
    		C,H,--135773503(+) AAATTA/GCTTGG 3 -- us2k1 tfbs34Minor allele frequency- G:0.00NS EA 418
    rs101592881,2
    		C,F,H,--135773507(+) TACTTG/AGTGCA 3 -- us2k17Minor allele frequency- A:0.05NS EA WA CSA 540
    rs121302501,2
    		H--135773536(+) tgtcaG/AttCAC 3 -- us2k14Minor allele frequency- A:0.00NS EA 410
    rs765972391,2
    		F,--135773685(+) CATTTG/TGTGAA 3 -- us2k11Minor allele frequency- T:0.04WA 118
    rs801944471,2
    		F,--135773834(+) TTATTA/GCATCT 3 -- us2k11Minor allele frequency- G:0.12WA 118
    rs557213471,2
    		C--135773902(+) ACGTCG/CTGCTG 3 -- us2k11Minor allele frequency- C:0.50WA 2
    rs772066301,2
    		F,--135774106(+) GCGAGC/GAGGGA 3 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1147189921,2
    		C,F,--135775481(+) NNNNTA/GCATGG 3 -- int11Minor allele frequency- G:0.02NA 120

    HapMap Linkage Disequilibrium report for PBX1 (164524821 - 164774821 bp, first 250kb of PBX1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PBX1: --

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for PBX1 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
    PBX1 for disorders           About GeneDecksing

    OMIM gene information: 176310    OMIM disorders: --

    UniProtKB/Swiss-Prot: PBX1_HUMAN, P40424
  • Note=A chromosomal aberration involving PBX1 is a cause of pre-B-cell acute lymphoblastic leukemia (B-ALL).
    • Translocation t(1;19)(q23;p13.3) with TCF3. TCF3-PBX1 transforms cells by constitutively activating transcription of
    genes regulated by PBX1 or by other members of the PBX protein family

    20/54 diseases for PBX1 (see all 54):    About MalaCards
    pre-b-cell acute lymphoblastic leukemia    acute lymphoblastic leukemia    leukemia    lymphoblastic leukemia
    leukemia, acute pre-b-cell    t-cell leukemia    pituitary hormone deficiency    combined pituitary hormone deficiency
    non-small cell lung carcinoma    short stature    growth hormone deficiency    type 2 diabetes mellitus
    multiple endocrine neoplasia    diabetes mellitus    pituitary adenoma    polycystic ovary syndrome
    insulin resistance    pituitary hypoplasia    anorexia nervosa    esophageal squamous cell carcinoma

    1 disease from the University of Copenhagen DISEASES database for PBX1:
    Leukemia

    10/29 Novoseek disease relationships for PBX1 gene (see all 29)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia pre-b-cell 94 12 8093327 (1), 9310317 (1), 1682799 (1), 15522959 (1) (see all 10)
    pituitary adenoma 60.2 5 11298082 (1), 16505278 (1), 15497657 (1), 11167934 (1) (see all 5)
    tsh deficiency 60.1 1 11549695 (1)
    lymphoblastic leukemia acute 57.3 9 12415113 (2), 1671560 (1), 1818313 (1), 8255105 (1) (see all 8)
    prolactinoma 55.7 4 11298082 (1), 18281148 (1), 1982864 (1), 7758228 (1)
    acromegaly 53.8 3 18281148 (1), 14713276 (1), 1982864 (1)
    leukemogenesis 50.6 4 19767769 (1), 9366523 (1), 12700034 (1)
    b-all 50 1 15801954 (1)
    leukemia 49.2 12 11369863 (1), 8327485 (1), 9010234 (1), 14764605 (1) (see all 12)
    pituitary tumors 48.4 1 9167954 (1)

    Genatlas disease: PBX1
    acute leukemia preB cell,with translocation t(1;19)(q23;p13.3) (see TCF3),upregulating the granulocyte
    colony-stimulating factor receptor (CSF3R)

    Genetic Association Database (GAD): PBX1
    Human Genome Epidemiology (HuGE) Navigator: PBX1 (9 documents)
    Tumor Gene Database (TGDB): PBX1

    Export disorders for PBX1 gene to outside databases

    Publications
    for PBX1 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 PBX1 gene, integrated from 9 sources (see all 245):
    (articles sorted by number of sources associating them with PBX1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Analysis of PBX1 as a candidate gene for type 2 diabetes mellitus in Pima Indians. (PubMed id 11267683)1, 2, 4 Thameem F.... Prochazka M. (2001)
    2. The t(1;19)(q23;p13) results in consistent fusion of E2A and PBX1 coding sequences in acute lymphoblastic leukemias. (PubMed id 1671560)1, 2, 9 Hunger S.P....Cleary M.L. (1991)
    3. Pbx1 is converted into a transcriptional activator upon acquiring the N-terminal region of E2A in pre-B-cell acute lymphoblastoid leukemia. (PubMed id 8327485)1, 2, 9 van Dijk M.A.... Murre C. (1993)
    4. Structure of a HoxB1-Pbx1 heterodimer bound to DNA: role of the hexapeptide and a fourth homeodomain helix in complex formation. (PubMed id 10052460)1, 2, 9 Piper D.E.... Wolberger C. (1999)
    5. PBX2 and PBX3, new homeobox genes with extensive homology to the human proto-oncogene PBX1. (PubMed id 1682799)1, 2, 9 Monica K.... Cleary M.L. (1991)
    6. Evaluation of sequence variants in the pre-B cell leukemia transcription factor 1 gene: a positional and functional candidate for type 2 diabetes and impaired insulin secretion. (PubMed id 16140554)1, 4, 9 Wang H....Elbein S.C. (2005)
    7. Fusion with E2A converts the Pbx1 homeodomain protein into a constitutive transcriptional activator in human leukemias carrying the t(1;19) translocation. (PubMed id 7910944)1, 2, 9 Lu Q.... Kamps M.P. (1994)
    8. Cooperative transcriptional activation by Klf4, Meis2 , and Pbx1. (PubMed id 21746878)1, 2 Bjerke G.A....Wotton D. (2011)
    9. MEIS proteins as partners of the TLX1/HOX11 oncoprote in. (PubMed id 19559479)1, 2 Milech N....Watt P.M. (2010)
    10. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)

    External Searches for PBX1 gene

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

    Genome Databases showing PBX1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5087 HGNC: 8632 AceView: PBX1 Ensembl:ENSG00000185630 euGenes: HUgn5087
    ECgene: PBX1 H-InvDB: PBX1

    Other Databases showing PBX1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PBX1 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 PBX1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PBX1 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for PBX1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PBX1 gene:
    Search GeneIP for patents involving PBX1

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



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    About This Section

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