Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PBX1 Gene

Aliases for PBX1 Gene

  • PBX Homeobox 1 2 3 5
  • Pre-B-Cell Leukemia Transcription Factor 1 2
  • Pre-B-Cell Leukemia Homeobox 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 (PBX Homeobox 1) is a Protein Coding gene. Diseases associated with PBX1 include Leukemia, Acute Lymphoblastic 3 and Acute Pre-B-Cell Lymphoblastic Leukemia. Among its related pathways are Mesodermal Commitment Pathway and DAG and IP3 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G164711 2.5 Ensembl ENCODE dbSUPER 10.1 +156.8 156815 1.7 PKNOX1 ATF1 ARNT YY1 TCF12 ZNF766 ELK1 GATA2 KLF13 NCOA1 LOC100505795 PBX1 ENSG00000276359
GH01G164621 2.4 Ensembl ENCODE dbSUPER 10.5 +67.0 67016 2.8 HDGF PKNOX1 ZNF133 FEZF1 GLI4 ZNF2 GLIS2 ZNF548 FOS YY2 PBX1 GC01P164639
GH01G164703 2.2 VISTA Ensembl ENCODE 9.7 +148.5 148464 1.8 CTCF PKNOX1 ATF1 CBX3 ZNF384 ZBTB40 RAD21 YY1 CREM NR4A1 PBX1 ENSG00000276359 LOC100505795
GH01G164557 1.2 ENCODE dbSUPER 14.1 +5.4 5395 6.6 HDGF PKNOX1 ARNT ZNF133 SIN3A FEZF1 ZNF2 YY1 GATA2 KLF7 PBX1 GC01P164639
GH01G164705 1.4 Ensembl ENCODE dbSUPER 10.4 +152.2 152167 3.8 TBP ZSCAN4 KLF17 RAD21 BRCA1 ZBTB40 RFX5 GATA2 KLF7 FOS PBX1 ENSG00000276359 LOC100505795
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

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 :
  • Belongs to the TALE/PBX homeobox family.
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:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding IDA,IEA 10052460
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA,NAS 10500199
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

Animal Models for PBX1 Gene

MGI Knock Outs for PBX1:

Animal Model Products

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

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for PBX1 Gene

Localization for PBX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PBX1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PBX1 gene
Compartment Confidence
nucleus 5
plasma membrane 2

Gene Ontology (GO) - Cellular Components for PBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 18973687
GO:0005654 nucleoplasm IDA,TAS --
GO:0005667 transcription factor complex IEA --
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:0001655 urogenital system development IEA --
GO:0001658 branching involved in ureteric bud morphogenesis IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with PBX1: view

Drugs & Compounds for PBX1 Gene

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

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

(6) 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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PBX1 Gene



Protein tissue co-expression partners for PBX1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PBX1 Gene:

PBX1

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.

Evidence on tissue expression from TISSUES for PBX1 Gene

  • Nervous system(4.9)
  • Blood(2.4)
  • Bone marrow(2.2)
  • Lung(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PBX1 Gene

Germ Layers:
  • mesoderm
Systems:
  • immune
  • lymphatic
Organs:
General:
  • blood
  • bone marrow
  • white blood cell
genes like me logo Genes that share expression patterns with PBX1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia PBX1 34 35
  • 99.77 (n)
cow
(Bos Taurus)
Mammalia PBX1 34 35
  • 96.2 (n)
oppossum
(Monodelphis domestica)
Mammalia PBX1 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PBX1 34 35
  • 95.81 (n)
mouse
(Mus musculus)
Mammalia Pbx1 34 16 35
  • 95.66 (n)
rat
(Rattus norvegicus)
Mammalia Pbx1 34
  • 95.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PBX1 35
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves PBX1A 35
  • 97 (a)
OneToOne
PBX1 34
  • 89.15 (n)
lizard
(Anolis carolinensis)
Reptilia PBX1 35
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pbx1 34
  • 82.68 (n)
Str.9805 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.9563 34
zebrafish
(Danio rerio)
Actinopterygii pbx1a 34 35
  • 94 (a)
pbx1b 34 35
  • 81.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta exd 36 34 35
  • 67.69 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta EXD_ANOGA 34
  • 67.09 (n)
worm
(Caenorhabditis elegans)
Secernentea ceh-20 35 34 36
  • 62.84 (n)
ManyToMany
ceh-40 35 36
  • 36 (a)
ManyToMany
ceh-60 35
  • 29 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8721 35
  • 61 (a)
OneToMany
Species where no ortholog for PBX1 was found in the sources mined by GeneCards:
  • 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
rs1000015457 -- 164,756,206(+) CACCG(C/T)GTAAG intron-variant
rs1000017037 -- 164,649,455(+) ACAAA(A/T)CTGTC intron-variant
rs1000031652 -- 164,864,975(+) TCTAG(A/T)GCTGC intron-variant
rs1000032194 -- 164,842,086(+) AGTGG(G/T)AAAAA intron-variant
rs1000042476 -- 164,621,861(+) CTTCC(A/C/G)TCTTC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv216n106 CNV deletion 24896259
esv2678037 CNV deletion 23128226
esv2719017 CNV deletion 23290073
esv2719029 CNV deletion 23290073
esv3401993 CNV insertion 20981092
esv3575119 CNV gain 25503493
esv3578234 CNV loss 25503493
esv3578235 CNV loss 25503493
esv3578236 CNV loss 25503493
esv3587796 CNV loss 21293372
nsv1011090 CNV gain 25217958
nsv1079021 CNV deletion 25765185
nsv479227 CNV novel sequence insertion 20440878
nsv831792 CNV gain+loss 17160897
nsv998419 CNV gain 25217958

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

Human Gene Mutation Database (HGMD)
PBX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PBX1

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

Disorders for PBX1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
leukemia, acute lymphoblastic 3
  • leukemia, acute lymphoblastic, susceptibility to, 3
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. 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. (PMID: 16140554) Wang H. … Elbein S.C. (Mol. Genet. Metab. 2005) 3 22 46 64
  2. 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 46 64
  3. Structure of a HoxB1-Pbx1 heterodimer bound to DNA: role of the hexapeptide and a fourth homeodomain helix in complex formation. (PMID: 10052460) Piper D.E. … Wolberger C. (Cell 1999) 3 4 22 64
  4. Fusion with E2A converts the Pbx1 homeodomain protein into a constitutive transcriptional activator in human leukemias carrying the t(1;19) translocation. (PMID: 7910944) Lu Q. … Kamps M.P. (Mol. Cell. Biol. 1994) 3 4 22 64
  5. Pbx1 is converted into a transcriptional activator upon acquiring the N-terminal region of E2A in pre-B-cell acute lymphoblastoid leukemia. (PMID: 8327485) van Dijk M.A. … Murre C. (Proc. Natl. Acad. Sci. U.S.A. 1993) 3 4 22 64

Products for PBX1 Gene

Sources for PBX1 Gene

Content
Loading form....