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Aliases for PBX1 Gene

Aliases for PBX1 Gene

  • Pre-B-Cell Leukemia Homeobox 1 2 3 5
  • Pre-B-Cell Leukemia Transcription Factor 1 2
  • Homeobox Protein PBX1 4
  • Homeobox Protein PRL 4
  • PRL 4

External Ids for PBX1 Gene

Previous GeneCards Identifiers for PBX1 Gene

  • GC01P162163
  • GC01P160179
  • GC01P161224
  • GC01P161716
  • GC01P161260
  • GC01P162795
  • GC01P135774

Summaries for PBX1 Gene

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 precursor b-cell acute lymphoblastic leukemia and acute pre-b-cell lymphoblastic leukemia. Among its related pathways are Transcriptional misregulation in cancer and NF-kappaB Signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is PBX3.

UniProtKB/Swiss-Prot for PBX1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PBX1 Gene

Genomics for PBX1 Gene

Regulatory Elements for PBX1 Gene

Enhancers for PBX1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PBX1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the PBX1 gene promoter:

Genomic Location for PBX1 Gene

Chromosome:
1
Start:
164,555,584 bp from pter
End:
164,899,296 bp from pter
Size:
343,713 bases
Orientation:
Plus strand

Genomic View for PBX1 Gene

Genes around PBX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PBX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PBX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PBX1 Gene

Proteins for PBX1 Gene

  • Protein details for PBX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P40424-PBX1_HUMAN
    Recommended name:
    Pre-B-cell leukemia transcription factor 1
    Protein Accession:
    P40424
    Secondary Accessions:
    • B4DSC1
    • F5H4U9
    • Q5T488

    Protein attributes for PBX1 Gene

    Size:
    430 amino acids
    Molecular mass:
    46626 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAA36764.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PBX1 Gene

    Alternative splice isoforms for PBX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PBX1 Gene

Proteomics data for PBX1 Gene at MOPED

Post-translational modifications for PBX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PBX1 Gene

Domains & Families for PBX1 Gene

Gene Families for PBX1 Gene

Graphical View of Domain Structure for InterPro Entry

P40424

UniProtKB/Swiss-Prot:

PBX1_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the TALE/PBX homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the TALE/PBX homeobox family.
genes like me logo Genes that share domains with PBX1: view

Function for PBX1 Gene

Molecular function for PBX1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for PBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10052460
genes like me logo Genes that share ontologies with PBX1: view
genes like me logo Genes that share phenotypes with PBX1: view

Human Phenotype Ontology for PBX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PBX1 Gene

MGI Knock Outs for PBX1:
Targeted motifs for PBX1 Gene
HOMER Transcription Factor Regulatory Elements motif PBX1
  • Consensus sequence: GSCTGTCACTCA Submotif: canonical Cell Type: MCF7 GEO ID: GSE28007

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for PBX1 Gene

Localization for PBX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PBX1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PBX1 Gene COMPARTMENTS Subcellular localization image for PBX1 gene
Compartment Confidence
nucleus 5
cytoskeleton 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 18973687
genes like me logo Genes that share ontologies with PBX1: view

Pathways & Interactions for PBX1 Gene

genes like me logo Genes that share pathways with PBX1: view

SIGNOR curated interactions for PBX1 Gene

Activates:

Gene Ontology (GO) - Biological Process for PBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0008284 positive regulation of cell proliferation IEA --
GO:0009887 organ morphogenesis IEA --
GO:0009952 anterior/posterior pattern specification IEA --
genes like me logo Genes that share ontologies with PBX1: view

Drugs & Compounds for PBX1 Gene

(18) Drugs for PBX1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0

(7) Additional Compounds for PBX1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PBX1: view

Transcripts for PBX1 Gene

Unigene Clusters for PBX1 Gene

Pre-B-cell leukemia homeobox 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PBX1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c
SP1: -
SP2: - -
SP3: - -
SP4:
SP5: -
SP6:

Relevant External Links for PBX1 Gene

GeneLoc Exon Structure for
PBX1
ECgene alternative splicing isoforms for
PBX1

Expression for PBX1 Gene

mRNA expression in normal human tissues for PBX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PBX1 Gene

This gene is overexpressed in Uterus (x4.1).

Protein differential expression in normal tissues from HIPED for PBX1 Gene

This gene is overexpressed in Ovary (9.1), Pancreas (7.8), Prostate (6.9), and Adrenal (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PBX1 Gene



SOURCE GeneReport for Unigene cluster for PBX1 Gene Hs.557097

mRNA Expression by UniProt/SwissProt for PBX1 Gene

P40424-PBX1_HUMAN
Tissue specificity: Expressed in all tissues except in cells of the B and T lineage.
genes like me logo Genes that share expression patterns with PBX1: view

Protein tissue co-expression partners for PBX1 Gene

Primer Products

In Situ Assay Products

Orthologs for PBX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PBX1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PBX1 35
  • 96.2 (n)
  • 100 (a)
PBX1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PBX1 35
  • 95.81 (n)
  • 99.77 (a)
PBX1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pbx1 35
  • 95.66 (n)
  • 100 (a)
Pbx1 16
Pbx1 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PBX1 35
  • 99.77 (n)
  • 100 (a)
PBX1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pbx1 35
  • 95.58 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia PBX1 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PBX1 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves PBX1 35
  • 89.15 (n)
  • 98.37 (a)
PBX1A 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PBX1 36
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pbx1 35
  • 82.68 (n)
  • 95.8 (a)
Str.9805 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.9563 35
zebrafish
(Danio rerio)
Actinopterygii pbx1a 35
pbx1b 35
  • 81.2 (n)
  • 92.31 (a)
pbx1a 36
  • 94 (a)
OneToMany
pbx1b 36
  • 93 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta exd 37
  • 80 (a)
exd 35
  • 67.69 (n)
  • 77.54 (a)
exd 36
  • 72 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta EXD_ANOGA 35
  • 67.09 (n)
  • 78.48 (a)
worm
(Caenorhabditis elegans)
Secernentea ceh-20 37
  • 64 (a)
ceh-40 37
  • 39 (a)
ceh-20 35
  • 62.84 (n)
  • 67.43 (a)
ceh-20 36
  • 58 (a)
ManyToMany
ceh-40 36
  • 36 (a)
ManyToMany
ceh-60 36
  • 29 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8721 36
  • 61 (a)
OneToMany
Species with no ortholog for PBX1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PBX1 Gene

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

Paralogs for PBX1 Gene

Paralogs for PBX1 Gene

genes like me logo Genes that share paralogs with PBX1: view

Variants for PBX1 Gene

Sequence variations from dbSNP and Humsavar for PBX1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2275558 - 164,559,883(+) ACCCC(A/G)GCCTG reference, missense
rs9771 -- 164,846,867(+) TCTCT(C/T)CCCTT intron-variant, utr-variant-3-prime
rs14832 -- 164,846,871(+) TTCCC(C/T)TTTTT intron-variant, utr-variant-3-prime
rs15171 -- 164,850,228(+) TTCTT(C/T)TATTT intron-variant, utr-variant-3-prime
rs723238 -- 164,694,212(-) AATTT(C/T)ATAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PBX1 Gene

Variant ID Type Subtype PubMed ID
nsv831792 CNV Gain+Loss 17160897
esv2719017 CNV Deletion 23290073
esv2719029 CNV Deletion 23290073
esv268123 CNV Insertion 20981092
esv2678037 CNV Deletion 23128226

Variation tolerance for PBX1 Gene

Residual Variation Intolerance Score: 20.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.21; 84.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PBX1 Gene

HapMap Linkage Disequilibrium report
PBX1
Human Gene Mutation Database (HGMD)
PBX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PBX1 Gene

Disorders for PBX1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PBX1 Gene - From: GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
precursor b-cell acute lymphoblastic leukemia
  • b-all
acute pre-b-cell lymphoblastic leukemia
  • pre b-cell acute lymphoblastic leukemia
leukemia
lymphoblastic leukemia
  • acute lymphocytic leukemia
childhood leukemia
- elite association - COSMIC cancer census association via MalaCards
Search PBX1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PBX1_HUMAN
  • 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. {ECO:0000269 PubMed:1671560, ECO:0000269 PubMed:1967983}.

Genatlas disease for PBX1 Gene

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

Relevant External Links for PBX1

Genetic Association Database (GAD)
PBX1
Human Genome Epidemiology (HuGE) Navigator
PBX1
Tumor Gene Database (TGDB):
PBX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PBX1
genes like me logo Genes that share disorders with PBX1: view

Publications for PBX1 Gene

  1. Analysis of PBX1 as a candidate gene for type 2 diabetes mellitus in Pima Indians. (PMID: 11267683) Thameem F. … Prochazka M. (Biochim. Biophys. Acta 2001) 3 4 48 67
  2. PBX1 and MEIS1 up-regulate SOX3 gene expression by direct interaction with a consensus binding site within the basal promoter region. (PMID: 19799567) Mojsin M. … Stevanovic M. (Biochem. J. 2010) 3 23
  3. CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease. (PMID: 18984668) Ferraz-de-Souza B. … Achermann J.C. (J. Clin. Endocrinol. Metab. 2009) 3 23
  4. KLF4 and PBX1 directly regulate NANOG expression in human embryonic stem cells. (PMID: 19522013) Chan K.K. … Choo A.B. (Stem Cells 2009) 3 23
  5. Pbx1 is a downstream target of Evi-1 in hematopoietic stem/progenitors and leukemic cells. (PMID: 19767769) Shimabe M. … Kurokawa M. (Oncogene 2009) 3 23

Products for PBX1 Gene

Sources for PBX1 Gene

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