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    PBX3 pre-B-cell leukemia homeobox 3 [ Homo sapiens (human) ]

    Gene ID: 5090, updated on 5-May-2013
    Official Symbol
    PBX3provided by HGNC
    Official Full Name
    pre-B-cell leukemia homeobox 3provided by HGNC
    Primary source
    HGNC:8634
    Locus tag
    RP11-336P12.1
    See related
    Ensembl:ENSG00000167081; HPRD:15938; MIM:176312; Vega:OTTHUMG00000020684
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Location :
    9q33.3
    Sequence :
    Chromosome: 9; NC_000009.11 (128509617..128729656)
    See PBX3 in Epigenomics, MapViewer

    Chromosome 9 - NC_000009.11Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase associated protein 1 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 15 Neighboring gene erythrocyte transmembrane protein Neighboring gene multivesicular body subunit 12B Neighboring gene non-protein coding RNA, repressor of NFAT Neighboring gene uncharacterized LOC100505986 Neighboring gene LIM homeobox transcription factor 1, beta

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. PBX3 is an important cofactor of HOXA9 in leukemogenesis. Li Z, et al. Blood, 2013 Feb 21. PMID 23264595.
    2. Non-synonymous variants in pre-B cell leukemia homeobox (PBX) genes are associated with congenital heart defects. Arrington CB, et al. Eur J Med Genet, 2012 Apr. PMID 22426282.
    3. Up-regulation of a HOXA-PBX3 homeobox-gene signature following down-regulation of miR-181 is associated with adverse prognosis in patients with cytogenetically abnormal AML. Li Z, et al. Blood, 2012 Mar 8. PMID 22251480.
    4. Regulation of PBX3 expression by androgen and Let-7d in prostate cancer. Ramberg H, et al. Mol Cancer, 2011 May 6. PMID 21548940.
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086.

    See all (23) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Collectively, our data suggest that PBX3 is a critical cofactor of HOXA9 in leukemogenesis.
      Title: PBX3 is an important cofactor of HOXA9 in leukemogenesis.
    2. The Pbx3 Ala136Val variant is a modifier or risk allele for congenital heart defects.
      Title: Non-synonymous variants in pre-B cell leukemia homeobox (PBX) genes are associated with congenital heart defects.
    3. Data show that up-regulation of the HOXA7, HOXA9, HOXA11, and PBX3 resulting from the down-regulation of miR-181 family members probably contribute to the poor prognosis of patients with nonfavorable cytogenetically abnormal AML (CA-AML).
      Title: Up-regulation of a HOXA-PBX3 homeobox-gene signature following down-regulation of miR-181 is associated with adverse prognosis in patients with cytogenetically abnormal AML.
    4. PBX3 is up-regulated in prostate cancer and post- transcriptionally regulated by androgen through Let-7d.
      Title: Regulation of PBX3 expression by androgen and Let-7d in prostate cancer.
    5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    6. our results seem to discard the role of the previously described polymorphisms in SERPINE2, PPP6C and PBX3 in celiac disease susceptibility.
      Title: Lack of replication of celiac disease risk variants reported in a Spanish population using an independent Spanish sample.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    P40426 Q6RW13 AGTRAP    HPRD  PubMed  
    P40426 P31269 HOXA9    HPRD  PubMed  
    P40426 P17481 HOXB8    HPRD  PubMed  
    P40426 O00470 MEIS1    HPRD  PubMed  
    BioGRID:111123 BioGRID:121356 AGTRAP    BioGRID  PubMed Two-hybrid 
    BioGRID:111123 BioGRID:109445 HOXA9    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111123 BioGRID:109458 HOXB8    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111123 BioGRID:115818 RABAC1    BioGRID  PubMed Two-hybrid 
    BioGRID:111123 BioGRID:114736 ZNHIT3    BioGRID  PubMed Two-hybrid 

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    sequence-specific DNA binding transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    adult locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    anterior compartment pattern formation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    dorsal spinal cord development IEA
    Inferred from Electronic Annotation
    more info
    		  
    neuron development IEA
    Inferred from Electronic Annotation
    more info
    		  
    posterior compartment specification TAS
    Traceable Author Statement
    more info
    		 PubMed 
    regulation of respiratory gaseous exchange by neurological system process IEA
    Inferred from Electronic Annotation
    more info
    		  
    respiratory gaseous exchange IEA
    Inferred from Electronic Annotation
    more info
    		  
    transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    pre-B-cell leukemia transcription factor 3
    Names
    pre-B-cell leukemia transcription factor 3
    homeobox protein PBX3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001134778.1 → NP_001128250.1  pre-B-cell leukemia transcription factor 3 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) utilizes an alternate first exon and 5'UTR; thus, the first likely translation initiation site corresponds to an internal methionine in variant 1. The predicted protein (isoform 2) is N-terminally truncated compared to isoform 1 and is not predicted to have a signal peptide.
      Source sequence(s)
      AK309713, BC094883, CD675622, CN372830, CN372832
      Consensus CDS
      CCDS48021.1
      UniProtKB/Swiss-Prot
      P40426
      Conserved Domains (2) summary
      pfam03792
      Location:1 – 159
      Blast Score: 698
      PBC; PBC domain
      cd00086
      Location:161 – 221
      Blast Score: 183
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

    2. NM_006195.5 → NP_006186.1  pre-B-cell leukemia transcription factor 3 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) utilizes an alternate first exon containing a predicted translation initiation site with a strong Kozak signal; the resulting protein isoform (1) is predicted to have a signal peptide.
      Source sequence(s)
      BC016977, BC094883, X59841
      Consensus CDS
      CCDS6865.1
      UniProtKB/Swiss-Prot
      P40426
      UniProtKB/TrEMBL
      Q96AL5
      Related
      ENSP00000362588, OTTHUMP00000248075, ENST00000373489, OTTHUMT00000417765
      Conserved Domains (2) summary
      pfam03792
      Location:42 – 234
      Blast Score: 854
      PBC; PBC domain
      cd00086
      Location:236 – 296
      Blast Score: 189
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

    RNA

    1. NR_024122.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) omits a coding exon resulting in a frameshift and truncated open reading frame. The transcript is predicted to be a candidate for nonsense-mediated decay and likely does not encode a protein.
      Source sequence(s)
      AF355141, AI479638, BC094883, CD675622, CN372830, CN372832, X59841

    2. NR_024123.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) omits two coding exons resulting in a frameshift and truncated open reading frame. The transcript is predicted to be a candidate for nonsense-mediated decay and likely does not encode a protein.
      Source sequence(s)
      AF355142, AI479638, BC094883, CD675622, CN372830, CN372832, X59841

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000009.11 Reference GRCh37.p10 Primary Assembly

      Range
      128509617..128729656
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000141.1 Alternate HuRef

      Range
      98122353..98347071
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018920.1 Alternate CHM1_1.0

      Range
      128522049..128741651
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01043794.1 None
    genomic ABBA01043795.1 None
    genomic ABBA01043796.1 None
    genomic ABBA01043797.1 None
    genomic ABBA01043798.1 None
    genomic ABBA01043799.1 None
    genomic ABBA01043800.1 None
    genomic ABBA01043801.1 None
    genomic AL358074.22 (65751..109080) None
    genomic AL445186.4 (2000..110516) None
    genomic AL627303.17 (2001..70193) None
    genomic AMYH01021715.1 None
    genomic CH471090.1 EAW87635.1
      EAW87636.1
      EAW87637.1
      EAW87638.1
    mRNA AF355141.1 AAL09477.1
    mRNA AF355142.1 AAL09478.1
    mRNA AI479638.1 None
    mRNA AJ420602.1 None
    mRNA AK092148.1 None
    mRNA AK289376.1 BAF82065.1
    mRNA AK297093.1 BAH12495.1
    mRNA AK299267.1 BAH12986.1
    mRNA AK309713.1 None
    mRNA AK312717.1 None
    mRNA BC016977.1 AAH16977.2
    mRNA BC094883.1 AAH94883.1
    mRNA CD675622.1 None
    mRNA CN372830.1 None
    mRNA CN372832.1 None
    mRNA X59841.1 CAA42502.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P40426.1 GenPept UniProtKB/Swiss-Prot:P40426

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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