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PBX1 Gene

protein-coding   GIFtS: 70
GCID: GC01P164524

Pre-B-Cell Leukemia Homeobox 1

(Previous name: pre-B-cell leukemia transcription factor 1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         

Export aliases for PBX1 gene to outside databases

Previous GC identifers: GC01P162163 GC01P160179 GC01P161224 GC01P161716 GC01P161260 GC01P162795 GC01P135774


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PBX1 Gene:
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)

GeneCards Summary for PBX1 Gene:
PBX1 (pre-B-cell leukemia homeobox 1) is a protein-coding gene. Diseases associated with PBX1 include leukemia, acute pre-b-cell, and precursor b-cell acute lymphoblastic leukemia. GO annotations related to this gene include protein heterodimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is PBX3.

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. Acts as a
transcriptional activator of NKX2-5 and a transcriptional repressor of CDKN2B. Together with NKX2-5, it is
required for spleen development through a mechanism that involves CDKN2B repression (By similarity)

Gene Wiki entry 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PBX1 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPBX1 promoter sequence
   Search Chromatin IP Primers for PBX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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

Explore proteomics data for PBX1 at MOPED


See PBX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

ENSEMBL proteins: 
 ENSP00000473998   ENSP00000341455   ENSP00000405890   ENSP00000453188   ENSP00000356872  
 ENSP00000452804   ENSP00000452727   ENSP00000453163   ENSP00000453331   ENSP00000453262  
 ENSP00000439943   ENSP00000384856   ENSP00000440869  
Reactome Protein details: P40424

PBX1 Human Recombinant Protein Products:

Browse Purified and Recombinant Proteins at EMD Millipore
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
OriGene Purified Protein for PBX1
OriGene Protein Over-expression Lysate for PBX1
OriGene MassSpec for 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 Sino Biological Cell Lysates
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for PBX1

PBX1 Antibody Products:

EMD Millipore Mono- and Polyclonal Antibodies for the study of PBX1
Browse R&D Systems for Antibodies
Cell Signaling Technology (CST) Antibodies for PBX1 
OriGene Antibodies for PBX1
OriGene Custom Antibody Services for PBX1
Novus Biologicals PBX1 Antibodies
Abcam antibodies for PBX1
Cloud-Clone Corp. Antibodies for PBX1
ThermoFisher Antibodies for PBX1
LSBio Antibodies in human, mouse, rat for PBX1

PBX1 Assay Products:

Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for PBX1
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for PBX1
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for PBX1
Cloud-Clone Corp. CLIAs for PBX1


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
TALE: Homeoboxes / TALE class

4 InterPro protein domains:
 IPR005542 PBX
 IPR017970 Homeobox_CS
 IPR001356 Homeobox_dom
 IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry P40424

ProtoNet protein and cluster: P40424

2 Blocks protein domains:
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


PBX1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: 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. Acts as a
transcriptional activator of NKX2-5 and a transcriptional repressor of CDKN2B. Together with NKX2-5, it is
required for spleen development through a mechanism that involves CDKN2B repression (By similarity)

     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

     Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA--
GO:0003677DNA binding IDA10052460
GO:0003700sequence-specific DNA binding transcription factor activity NAS10500199
GO:0005515protein binding IPI10052460
GO:0008134transcription factor binding IPI15684392
     
PBX1 for ontologies           About GeneDecksing


Phenotypes:
     Selected 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/body  hearing/vestibular/ear  hematopoietic system 
 homeostasis/metabolism  immune system  integument  limbs/digits/tail  liver/biliary system 

PBX1 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-outs for PBX1: Pbx1tm2.1Mlc Pbx1tm1.2Koss Pbx1tm1.1Febe Pbx1tm1Mlc

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PBX1
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PBX1

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PBX1
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PBX1

Transcription Factor Targeting: 
Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                      Consensus sequence:  GSCTGTCACTCA 

miRNA
Products:
    
miRTarBase miRNAs that target PBX1:
hsa-mir-149-5p (MIRT045499), hsa-mir-124-3p (MIRT022992), hsa-mir-21-5p (MIRT030981), hsa-mir-877-3p (MIRT037024)

Block miRNA regulation of human, mouse, rat PBX1 using miScript Target Protectors
Selected qRT-PCR 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 plasmidPBX1 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for PBX1
Predesigned siRNA for gene silencing in human, mouse, rat PBX1

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

Clone
Products:
     
OriGene clones in human, mouse for PBX1 (see all 6)
OriGene ORF clones in 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
DNA2.0 Custom Codon Optimized Gene Synthesis Service for PBX1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PBX1

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for PBX1
Browse ESI BIO Cell Lines and PureStem Progenitors for PBX1 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PBX1


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
PBX1_HUMAN, P40424: Nucleus (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5

Gene Ontology (GO): 4 cellular component terms:    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


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for PBX1 About   (see all 6)  
See pathways by source

SuperPathContained pathways About
1Ca-dependent events
Development Role of Activin A in cell differentiation and proliferation0.32
2Transcriptional misregulation in cancer
Transcriptional misregulation in cancer
3Transcription factors in neurogenesis
Transcription factors in neurogenesis
4SIDS Susceptibility Pathways
SIDS Susceptibility Pathways
5Lymphocyte Signaling
Lymphocyte Signaling

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PBX1
    JAK-STAT Pathway
Prolactin Signaling

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

1 Reactome Pathway for PBX1
    Transcriptional regulation of pluripotent stem cells


1 Kegg Pathway  (Kegg details for PBX1):
    Transcriptional misregulation in cancer


PBX1 for pathways           About GeneDecksing

    Pathway & Disease-focused RT2 Profiler PCR Array including PBX1: 
          Notch Signaling Targets in human mouse rat

Interactions:

    GeneGlobe Interaction Network for PBX1

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

Selected Interacting proteins for PBX1 (P404241, 2, 3 ENSP000004058904) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
InteractantInteraction Details
GeneCardExternal ID(s)
ENSG00000237344P404252, 3, ENSP000003971774MINT-50161 I2D: score=2 STRING: ENSP00000397177
PBX2P404252, 3, ENSP000003641904MINT-50161 I2D: score=2 STRING: ENSP00000364190
ENSG00000206315P404252, 3MINT-50161 I2D: score=2 
ENSG00000224952P404252, 3MINT-50161 I2D: score=2 
ENSG00000225987P404252, 3MINT-50161 I2D: score=2 
About this table

Gene Ontology (GO): Selected biological process terms (see all 22):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001655urogenital system development ----
GO:0001658branching involved in ureteric bud morphogenesis IEA--
GO:0006355regulation of transcription, DNA-templated ----
GO:0006694steroid biosynthetic process IEA--
GO:0007548sex differentiation IEA--

PBX1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

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--

Selected Novoseek inferred 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)



PBX1 for compounds           About GeneDecksing



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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
Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
ENST00000467023 ENST00000485769 ENST00000340699 ENST00000420696(uc001gct.3 uc010pku.2 uc001gcs.3 uc010pkv.2)
ENST00000498497 ENST00000559240 ENST00000367897 ENST00000605467 ENST00000559578
ENST00000560469 ENST00000496120 ENST00000468104 ENST00000560641 ENST00000474046(uc001gcu.1)
ENST00000482110 ENST00000558796 ENST00000558837 ENST00000559560
miRNA
Products:
     
Block miRNA regulation of human, mouse, rat PBX1 using miScript Target Protectors
Selected qRT-PCR 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 plasmidPBX1 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for PBX1
Predesigned siRNA for gene silencing in human, mouse, rat PBX1
Clone
Products:
     
OriGene clones in human, mouse for PBX1 (see all 6)
OriGene ORF clones in 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)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for PBX1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PBX1
Primer
Products:
    
OriGene qPCR primer pairs and template standards for PBX1
OriGene qSTAR qPCR primer pairs in human, mouse for PBX1
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PBX1
  QuantiTect SYBR Green Assays in human, mouse, rat PBX1
  QuantiFast Probe-based Assays in human, mouse, rat PBX1

Additional mRNA 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 

Selected AceView cDNA sequences (see all 350):

AA243108 AW166465 AI889898 BE503195 AA033676 T31436 BM702326 AI889907 
AA083883 AU119148 AW079277 AI208369 CA394304 AI674181 BM697938 BM722530 
BM069546 Z44712 F03712 T33178 AI889897 AI253263 BX647313 BM931310 

GeneLoc Exon Structure

Selected 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

(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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PBX1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CAGGAAGAAG
PBX1 Expression
About this image


PBX1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 16) fully expand
 
 Cartilage (Muscoskeletal System)    fully expand to see all 7 entries
         Mesenchymal Condensate Cells Zeugopod
 
 Bone (Muscoskeletal System)    fully expand to see all 7 entries
         Osteochondro Mesenchymal Cells Rib
 
 Limb (Muscoskeletal System)    fully expand to see all 4 entries
         Limb Bud Mesenchyme Cells Limb Bud
 
 Pancreas (Endocrine System)    fully expand to see all 3 entries
         Duct Cells Pancreatic Ducts
 
 Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
         Limb Bud Mesenchyme Cells Limb Bud
PBX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

PBX1 Protein Expression

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

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(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)
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This gene was present in the common ancestor of animals.

Orthologs for PBX1 gene from Selected species (see all 18)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Pbx11 , 5 pre B cell leukemia homeobox 11, 5 95.66(n)1
100(a)1
  1 (75.95 cM)5
185141  NM_183355.21  NP_899198.11 
 1681535275 
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
pre-B-cell leukemia homeobox 1
98(a)
1 ↔ 1
GL343405.1(648257-873799)
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
67.69(n)1
77.54(a)1
  14A53
325671  NM_078636.51  NP_523360.11 
worm
(Caenorhabditis elegans)
Secernentea ceh-201 , 3 ceh-201 64(a)
(best of 2)3
62.84(n)1
67.43(a)1
  III(7051642-7053281)3
35655451  NM_001027384.31  NP_001022555.11 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for PBX1 gene
PBX32  PBX42  PBX22  
8 SIMAP similar genes for PBX1 using alignment to 11 protein entries:     PBX1_HUMAN (see all proteins):
E2A/PBX1 fusion    DKFZp686B09108    PBX3    PBX2    PBX4    TGIF1
TGIF2    WUGSC

PBX1 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for PBX1 (see all 5754)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs669277171,2
C--135775883(+) TTCTT-/CCCCCC 3 -- int10--------
rs2016566041,2
C--135775883(+) TTCTTC/TCCCCC 3 -- int10--------
rs1447590081,2
C--135806852(+) GCTTA-/AGAGAGT 3 -- int10--------
rs1998518031,2
C--135808983(+) ATAATA/TAATAG 3 -- int10--------
rs746050911,2
C--135808987(+) ATAAA-/GTAA  
        
TAGCC
3 -- int10--------
rs1134846141,2
C--135818035(+) GATTG-/A/AA  
        
AAAAA
3 -- int11CSA 2
rs121239051,2
A--135819274(+) tttttA/Ttagag 3 -- int1 trp30--------
rs715834151,2
C--135833607(+) ATCAC-/GGCG  
  
/GGCGG
GGGGG
3 -- int11NA 2
rs719291901,2
C--135833607(+) AATCA-/CGGCGGGG 3 -- int10--------
rs1388767151,2
C--135845143(+) CTTGC-/CAATT 
        
CTTTG
3 -- int10--------

HapMap Linkage Disequilibrium report for PBX1 (164524821 - 164774821 bp, first 250kb of PBX1)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for PBX1:    About this table    
Variant IDTypeSubtypePubMed ID
esv2678037CNV Deletion23128226
esv2719017CNV Deletion23290073
esv2719029CNV Deletion23290073
esv268123CNV Insertion20981092
nsv831792CNV Gain+Loss17160897

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(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.)
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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

  • Selected diseases for PBX1 (see all 53):    
    About MalaCards
    leukemia, acute pre-b-cell    precursor b-cell acute lymphoblastic leukemia    lymphoblastic leukemia    pre-b-cell acute lymphoblastic leukemia
    combined pituitary hormone deficiency    pituitary hypoplasia    t-cell leukemia    leukemia
    prolactinoma    hypopituitarism    acromegaly    short stature
    multiple endocrine neoplasia    pituitary tumors    growth hormone deficiency    insulinoma
    hyperparathyroidism    acute lymphocytic leukemia    pituitary adenoma    cushing's syndrome

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

    PBX1 for disorders           About GeneDecksing

    Selected Novoseek inferred 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

    (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)
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    PubMed articles for PBX1 gene, integrated from 10 sources (see all 250):
    (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. (Biochim. Biophys. Acta 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. (Blood 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Cell 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. (Mol. Cell. Biol. 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. (Mol. Genet. Metab. 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. (Mol. Cell. Biol. 1994)
    8. Cooperative transcriptional activation by Klf4, Meis2, and Pbx1. (PubMed id 21746878)1, 2 Bjerke G.A.... Wotton D. (Mol. Cell. Biol. 2011)
    9. Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. (PubMed id 20966902)1, 4 Croteau-Chonka D.C....Mohlke K.L. (Obesity (Silver Spring) 2011)
    10. MEIS proteins as partners of the TLX1/HOX11 oncoprotein. (PubMed id 19559479)1, 2 Milech N....Watt P.M. (Leuk. Res. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PBX1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PBX1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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