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PBX1 (pre-B-cell leukemia homeobox 1)

Written1997-10Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated1997-11Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namespre-B-cell leukemia transcription factor 1
pre-B-cell leukemia homeobox 1
Other aliasPRL
HGNC (Hugo) PBX1
LocusID (NCBI) 5087
Atlas_Id 2
Location 1q23.3  [Link to chromosome band 1q23]
Location_base_pair Starts at 164559360 and ends at 164851823 bp from pter ( according to hg19-Feb_2009)  [Mapping PBX1.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
AFF1 (4q21.3) / PBX1 (1q23.3)EWSR1 (22q12.2) / PBX1 (1q23.3)MKL1 (22q13.1) / PBX1 (1q23.3)
PBX1 (1q23.3) / ADGRG1 (16q21)PBX1 (1q23.3) / COPG2 (7q32.2)PBX1 (1q23.3) / CTNNA3 (10q21.3)
PBX1 (1q23.3) / DHX40 (17q23.1)PBX1 (1q23.3) / DISC1 (1q42.2)PBX1 (1q23.3) / EWSR1 (22q12.2)
PBX1 (1q23.3) / ILDR2 (1q24.1)PBX1 (1q23.3) / KMT2A (11q23.3)PBX1 (1q23.3) / LRRC52 (1q24.1)
PBX1 (1q23.3) / PBX1 (1q23.3)PBX1 (1q23.3) / RHBG (1q22)PBX1 (1q23.3) / TCF3 (19p13.3)
PBX1 (1q23.3) / TCF7L1 (2p11.2)PBX1 (1q23.3) / WBSCR22 (7q11.23)PRKCA (17q24.2) / PBX1 (1q23.3)
TCF3 (19p13.3) / PBX1 (1q23.3)TCF7L1 (2p11.2) / PBX1 (1q23.3)UCK2 (1q24.1) / PBX1 (1q23.3)

DNA/RNA

 
  c-PBX1at 1q23 in normal cells: PAC 953E11 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Transcription 1.8 kb; alternate splicing -->PBX1a and PBX1b, different only in the C-Term

Protein

Description 338 (PBX1b) and 430 (PBX1a) amino acids; 37 kDa; homeodomain (to binds to DNA)
Expression ubiquitously expressed, except in B and T lineages
Localisation nuclear (probable)
Function associated to HOX proteins, can bind to specific DNA sequences (5' ATCAATCAA 3'), for transcription regulation
Homology PBX2 and PBX3 have nearly identical homeodomains; homeobox proteins; homologues of the fly protein 'extradenticle'

Implicated in

Note
  
Entity t(1;19)(q23;p13) /B-ALL --> E2A /PBX1
Disease pre B ALL mainly; CD19+, CD10+, CD9+
Prognosis controversial data; associated with poor prognostic features
Cytogenetics two different forms: - the balanced t(1;19); - the unbalanced form, with 2 normal chromosomes 1, a der(19), and a normal chromosome19: --> partial trisomy for 1q23-1qter and monosomy for 19p13.3-pter ; additional anomalies: in half of the cases; they are various
Hybrid/Mutated Gene 5' E2A from 19p13 fused to 3' PBX1; breakpoints are clustered on both genes
Abnormal Protein N-term transcriptional activation domains from E2A fused to the Hox cooperative motif and homeodomain of C-term PBX1
Oncogenesis potent transcriptional activator; pleiotropic transforming activity
  

Breakpoints

 

Bibliography

Chromosomal translocations involving the E2A gene in acute lymphoblastic leukemia: clinical features and molecular pathogenesis.
Hunger SP
Blood. 1996 ; 87 (4) : 1211-1224.
PMID 8608207
 
A new homeobox gene contributes the DNA binding domain of the t(1;19) translocation protein in pre-B ALL.
Kamps MP, Murre C, Sun XH, Baltimore D
Cell. 1990 ; 60 (4) : 547-555.
PMID 1967983
 
Molecular analysis of the t(1;19) breakpoint cluster region in pre-B cell acute lymphoblastic leukemias.
Mellentin JD, Nourse J, Hunger SP, Smith SD, Cleary ML
Genes, chromosomes & cancer. 1990 ; 2 (3) : 239-247.
PMID 2078515
 
Chromosomal translocation t(1;19) results in synthesis of a homeobox fusion mRNA that codes for a potential chimeric transcription factor.
Nourse J, Mellentin JD, Galili N, Wilkinson J, Stanbridge E, Smith SD, Cleary ML
Cell. 1990 ; 60 (4) : 535-545.
PMID 1967982
 

Citation

This paper should be referenced as such :
Huret JL
PBX1 (pre-B-cell leukemia homeobox 1);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Genes/PBX1ID2.html
History of this paper:
Huret JL. PBX1 (pre-B-cell leukemia homeobox 1). Atlas Genet Cytogenet Oncol Haematol. 1997;1(2):49-50.
http://documents.irevues.inist.fr/bitstream/handle/2042/32045/11-1997-PBX1ID2.pdf


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 4 ]
  1q rearrangements in multiple myeloma
i(9q) in ALL
i(Xq10) in female patients
t(1;19)(q23;p13) TCF3/PBX1


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  Soft Tissues: Malignant Myoepithelioma
Soft tissue tumors: an overview
Soft Tissues: Myoepithelioma with t(1;22)(q23;q12) EWSR1/PBX1
Lung: Translocations in Adenocarcinoma


External links

Nomenclature
HGNC (Hugo)PBX1   8632
Cards
AtlasPBX1ID2
Entrez_Gene (NCBI)PBX1  5087  PBX homeobox 1
Aliases
GeneCards (Weizmann)PBX1
Ensembl hg19 (Hinxton)ENSG00000185630 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000185630 [Gene_View]  chr1:164559360-164851823 [Contig_View]  PBX1 [Vega]
ICGC DataPortalENSG00000185630
TCGA cBioPortalPBX1
AceView (NCBI)PBX1
Genatlas (Paris)PBX1
WikiGenes5087
SOURCE (Princeton)PBX1
Genetics Home Reference (NIH)PBX1
Genomic and cartography
GoldenPath hg38 (UCSC)PBX1  -     chr1:164559360-164851823 +  1q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PBX1  -     1q23.3   [Description]    (hg19-Feb_2009)
EnsemblPBX1 - 1q23.3 [CytoView hg19]  PBX1 - 1q23.3 [CytoView hg38]
Mapping of homologs : NCBIPBX1 [Mapview hg19]  PBX1 [Mapview hg38]
OMIM176310   
Gene and transcription
Genbank (Entrez)AK022520 AK022962 AK291415 AK299673 AK301540
RefSeq transcript (Entrez)NM_001204961 NM_001204963 NM_002585
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PBX1
Cluster EST : UnigeneHs.557097 [ NCBI ]
CGAP (NCI)Hs.557097
Alternative Splicing GalleryENSG00000185630
Gene ExpressionPBX1 [ NCBI-GEO ]   PBX1 [ EBI - ARRAY_EXPRESS ]   PBX1 [ SEEK ]   PBX1 [ MEM ]
Gene Expression Viewer (FireBrowse)PBX1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5087
GTEX Portal (Tissue expression)PBX1
Human Protein AtlasENSG00000185630-PBX1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP40424   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP40424  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP40424
Splice isoforms : SwissVarP40424
PhosPhoSitePlusP40424
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox-like    Homeobox_CS    Homeobox_dom    PBX   
Domain families : Pfam (Sanger)Homeobox (PF00046)    PBC (PF03792)   
Domain families : Pfam (NCBI)pfam00046    pfam03792   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)PBX1
DMDM Disease mutations5087
Blocks (Seattle)PBX1
PDB (SRS)1B72    1PUF   
PDB (PDBSum)1B72    1PUF   
PDB (IMB)1B72    1PUF   
PDB (RSDB)1B72    1PUF   
Structural Biology KnowledgeBase1B72    1PUF   
SCOP (Structural Classification of Proteins)1B72    1PUF   
CATH (Classification of proteins structures)1B72    1PUF   
SuperfamilyP40424
Human Protein Atlas [tissue]ENSG00000185630-PBX1 [tissue]
Peptide AtlasP40424
HPRD08889
IPIIPI00028415   IPI00215683   IPI01009674   IPI01009062   IPI00645273   
Protein Interaction databases
DIP (DOE-UCLA)P40424
IntAct (EBI)P40424
FunCoupENSG00000185630
BioGRIDPBX1
STRING (EMBL)PBX1
ZODIACPBX1
Ontologies - Pathways
QuickGOP40424
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  branching involved in ureteric bud morphogenesis  DNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  cytoplasm  transcription from RNA polymerase II promoter  steroid biosynthetic process  sex differentiation  positive regulation of cell proliferation  anterior/posterior pattern specification  proximal/distal pattern formation  positive regulation of G2/M transition of mitotic cell cycle  regulation of ossification  adrenal gland development  embryonic limb morphogenesis  somatic stem cell population maintenance  embryonic hemopoiesis  negative regulation of neuron differentiation  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  spleen development  thymus development  embryonic skeletal system development  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  branching involved in ureteric bud morphogenesis  DNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  cytoplasm  transcription from RNA polymerase II promoter  steroid biosynthetic process  sex differentiation  positive regulation of cell proliferation  anterior/posterior pattern specification  proximal/distal pattern formation  positive regulation of G2/M transition of mitotic cell cycle  regulation of ossification  adrenal gland development  embryonic limb morphogenesis  somatic stem cell population maintenance  embryonic hemopoiesis  negative regulation of neuron differentiation  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  spleen development  thymus development  embryonic skeletal system development  
Pathways : KEGGTranscriptional misregulation in cancer   
REACTOMEP40424 [protein]
REACTOME PathwaysR-HSA-5617472 [pathway]   
NDEx NetworkPBX1
Atlas of Cancer Signalling NetworkPBX1
Wikipedia pathwaysPBX1
Orthology - Evolution
OrthoDB5087
GeneTree (enSembl)ENSG00000185630
Phylogenetic Trees/Animal Genes : TreeFamPBX1
HOVERGENP40424
HOGENOMP40424
Homologs : HomoloGenePBX1
Homology/Alignments : Family Browser (UCSC)PBX1
Gene fusions - Rearrangements
Fusion : MitelmanAFF1/PBX1 [4q21.3/1q23.3]  [t(1;4;11)(q23;q21;q23)]  
Fusion : MitelmanEWSR1/PBX1 [22q12.2/1q23.3]  [t(1;22)(q23;q12)]  
Fusion : MitelmanPBX1/COPG2 [1q23.3/7q32.2]  [t(1;7)(q23;q32)]  
Fusion : MitelmanPBX1/CTNNA3 [1q23.3/10q21.3]  [t(1;10)(q23;q21)]  
Fusion : MitelmanPBX1/DHX40 [1q23.3/17q23.1]  [t(1;17)(q23;q23)]  
Fusion : MitelmanPBX1/DISC1 [1q23.3/1q42.2]  [t(1;1)(q23;q42)]  
Fusion : MitelmanPBX1/ILDR2 [1q23.3/1q24.1]  [t(1;1)(q23;q24)]  
Fusion : MitelmanPBX1/LRRC52 [1q23.3/1q24.1]  [t(1;1)(q23;q24)]  
Fusion : MitelmanPBX1/RHBG [1q23.3/1q22]  [t(1;1)(q22;q23)]  
Fusion : MitelmanTCF3/PBX1 [19p13.3/1q23.3]  [der(19)t(1;19)(q23;p13)]  [t(1;19)(q23;p13)]  
Fusion : MitelmanUCK2/PBX1 [1q24.1/1q23.3]  [t(1;1)(q23;q24)]  
Fusion : COSMICEWSR1 [22q12.2]  -  PBX1 [1q23.3]  [fusion_1344]  [fusion_349]  [fusion_350]  [fusion_351]  
Fusion : COSMICTCF3 [19p13.3]  -  PBX1 [1q23.3]  [fusion_1489]  [fusion_1490]  [fusion_2121]  [fusion_2122]  [fusion_2123]  [fusion_2124]  [fusion_2125]  
[fusion_2126]  [fusion_2127]  [fusion_2128]  [fusion_2129]  [fusion_2130]  [fusion_2131]  [fusion_2132]  [fusion_2133]  [fusion_2134]  [fusion_2135]  
[fusion_2136]  [fusion_2137]  [fusion_2138]  [fusion_2140]  [fusion_2141]  [fusion_2142]  [fusion_2143]  [fusion_2144]  [fusion_2145]  [fusion_2146]  
[fusion_2147]  
Fusion: TCGAPBX1 1q23.3 COPG2 7q32.2 BRCA
Fusion: TCGAPBX1 1q23.3 CTNNA3 10q21.3 BRCA
Fusion: TCGAPBX1 1q23.3 DHX40 17q23.1 BRCA
Fusion: TCGAPBX1 1q23.3 DISC1 1q42.2 BRCA
Fusion: TCGAPBX1 1q23.3 ILDR2 1q24.1 BRCA
Fusion: TCGAPBX1 1q23.3 LRRC52 1q24.1 BRCA
Fusion: TCGAPBX1 1q23.3 RHBG 1q22 BRCA
Fusion: TCGAUCK2 1q24.1 PBX1 1q23.3 OV
Fusion : TICdbEWSR1 [22q12.2]  -  PBX1 [1q23.3]
Fusion : TICdbTCF3 [19p13.3]  -  PBX1 [1q23.3]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPBX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PBX1
dbVarPBX1
ClinVarPBX1
1000_GenomesPBX1 
Exome Variant ServerPBX1
ExAC (Exome Aggregation Consortium)ENSG00000185630
GNOMAD BrowserENSG00000185630
Genetic variants : HAPMAP5087
Genomic Variants (DGV)PBX1 [DGVbeta]
DECIPHERPBX1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPBX1 
Mutations
ICGC Data PortalPBX1 
TCGA Data PortalPBX1 
Broad Tumor PortalPBX1
OASIS PortalPBX1 [ Somatic mutations - Copy number]
Cancer Gene: CensusPBX1 
Somatic Mutations in Cancer : COSMICPBX1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPBX1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PBX1
DgiDB (Drug Gene Interaction Database)PBX1
DoCM (Curated mutations)PBX1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PBX1 (select a term)
intoGenPBX1
NCG5 (London)PBX1
Cancer3DPBX1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM176310   
Orphanet14433   
MedgenPBX1
Genetic Testing Registry PBX1
NextProtP40424 [Medical]
TSGene5087
GENETestsPBX1
Target ValidationPBX1
Huge Navigator PBX1 [HugePedia]
snp3D : Map Gene to Disease5087
BioCentury BCIQPBX1
ClinGenPBX1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5087
Chemical/Pharm GKB GenePA32970
Clinical trialPBX1
Miscellaneous
canSAR (ICR)PBX1 (select the gene name)
Probes
Litterature
PubMed107 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePBX1
EVEXPBX1
GoPubMedPBX1
iHOPPBX1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Oct 12 16:29:52 CEST 2017

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