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

Aliases for PBX1 Gene

Aliases for PBX1 Gene

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

External Ids for PBX1 Gene

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 lymphoblastic leukemia. Among its related pathways are PI3K-Akt signaling pathway and PI-3K cascade. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity 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

Genomic Location for PBX1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PBX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PBX1 Gene

Regulatory Elements for PBX1 Gene

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

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

No Post-translational modifications

No data available for DME Specific Peptides for PBX1 Gene

Domains for PBX1 Gene

Gene Families for PBX1 Gene

HGNC:
  • TALE :Homeoboxes / TALE class

UniProtKB/Swiss-Prot:

PBX1_HUMAN
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • P40424
Family:
  • Belongs to the TALE/PBX homeobox family.:
    • P40424
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 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0003677 DNA binding IDA 10052460
GO:0003700 sequence-specific DNA binding transcription factor activity 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:

miRNA for PBX1 Gene

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

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for PBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15684392
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm IDA 18973687
genes like me logo Genes that share ontologies with PBX1: view

Pathways for PBX1 Gene

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

Gene Ontology (GO) - Biological Process for PBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001655 urogenital system development --
GO:0001658 branching involved in ureteric bud morphogenesis IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006694 steroid biosynthetic process IEA --
genes like me logo Genes that share ontologies with PBX1: view

Compounds for PBX1 Gene

(1) HMDB Compounds for PBX1 Gene

Compound Synonyms Cas Number PubMed IDs
Cyclic AMP
  • Cyclic AMP
60-92-4

(24) Novoseek inferred chemical compound relationships for PBX1 Gene

Compound -log(P) Hits PubMed IDs
hexarelin 85.1 22
ghrp 75.2 2
acth 58.6 32
17-hydroxyprogesterone 50.7 5
testosterone 43.7 15
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 (4.1).

Integrated Proteomics: protein expression 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 expressions with PBX1: view

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 36
  • 99.77 (n)
  • 100 (a)
PBX1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PBX1 36
  • 96.2 (n)
  • 100 (a)
PBX1 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PBX1 36
  • 95.81 (n)
  • 99.77 (a)
PBX1 37
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pbx1 36
  • 95.66 (n)
  • 100 (a)
Pbx1 16
Pbx1 37
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PBX1 37
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PBX1 37
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pbx1 36
  • 95.58 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves PBX1 36
  • 89.15 (n)
  • 98.37 (a)
PBX1A 37
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PBX1 37
  • 98 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.9563 36
tropical clawed frog
(Silurana tropicalis)
Amphibia pbx1 36
  • 82.68 (n)
  • 95.8 (a)
Str.9805 36
zebrafish
(Danio rerio)
Actinopterygii pbx1a 36
pbx1a 37
  • 94 (a)
OneToMany
pbx1b 36
  • 81.2 (n)
  • 92.31 (a)
pbx1b 37
  • 93 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta EXD_ANOGA 36
  • 67.09 (n)
  • 78.48 (a)
fruit fly
(Drosophila melanogaster)
Insecta exd 36
  • 67.69 (n)
  • 77.54 (a)
exd 37
  • 72 (a)
OneToMany
exd 38
  • 80 (a)
worm
(Caenorhabditis elegans)
Secernentea ceh-20 36
  • 62.84 (n)
  • 67.43 (a)
ceh-20 37
  • 58 (a)
ManyToMany
ceh-40 37
  • 36 (a)
ManyToMany
ceh-60 37
  • 29 (a)
ManyToMany
ceh-40 38
  • 39 (a)
ceh-20 38
  • 64 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8721 37
  • 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 MAF
rs9771 -- 164,846,867(+) TCTCT(C/T)CCCTT utr-variant-3-prime, intron-variant
rs14832 -- 164,846,871(+) TTCCC(C/T)TTTTT utr-variant-3-prime, intron-variant
rs15171 -- 164,850,228(+) TTCTT(C/T)TATTT utr-variant-3-prime
rs723238 -- 164,694,212(-) AATTT(C/T)ATAAT intron-variant
rs727914 -- 164,817,679(-) AAAAA(A/T)TACAT 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

Relevant External Links for PBX1 Gene

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

Disorders for PBX1 Gene

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.

(1) University of Copenhagen DISEASES for PBX1 Gene

(29) Novoseek inferred disease relationships for PBX1 Gene

Disease -log(P) Hits PubMed IDs
leukemia pre-b-cell 94 10
pituitary adenoma 60.2 5
tsh deficiency 60.1 1
lymphoblastic leukemia acute 57.3 9
prolactinoma 55.7 4

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

Publications for PBX1 Gene

  1. PBX2 and PBX3, new homeobox genes with extensive homology to the human proto-oncogene PBX1. (PMID: 1682799) Monica K. … Cleary M.L. (Mol. Cell. Biol. 1991) 3 4 23
  2. 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 23
  3. 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 23
  4. 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 23
  5. 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 23 49

Products for PBX1 Gene

  • Addgene plasmids for PBX1

Sources for PBX1 Gene

Back to Top

Content