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PBX1 (pre-B-cell leukemia homeobox 1)

Written1997-11Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
This article is an update of :
1997-10Jean-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 (NCBI)PRL
HGNC (Hugo) PBX1
HGNC Previous namepre-B-cell leukemia transcription factor 1
 pre-B-cell leukemia homeobox 1
LocusID (NCBI) 5087
Atlas_Id 2
Location 1q23.3  [Link to chromosome band 1q23]
Location_base_pair Starts at 164559184 and ends at 164851831 bp from pter ( according to GRCh38/hg38-Dec_2013)  [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 /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. 1997;1(2):49-50.
Free journal version : [ pdf ]   [ DOI ]
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) [ 6 ]
  1q rearrangements in multiple myeloma
i(9q) in ALL
i(Xq10) in female patients
t(1;19)(q23;p13) TCF3::PBX1
t(1;19)(q22;p13.2) MEF2D::DAZAP1
AFF1::PBX1 ()


External links

 

Nomenclature
HGNC (Hugo)PBX1   8632
Cards
AtlasPBX1ID2
Entrez_Gene (NCBI)PBX1    PBX homeobox 1
AliasesCAKUHED
GeneCards (Weizmann)PBX1
Ensembl hg19 (Hinxton)ENSG00000185630 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000185630 [Gene_View]  ENSG00000185630 [Sequence]  chr1:164559184-164851831 [Contig_View]  PBX1 [Vega]
ICGC DataPortalENSG00000185630
TCGA cBioPortalPBX1
AceView (NCBI)PBX1
Genatlas (Paris)PBX1
SOURCE (Princeton)PBX1
Genetics Home Reference (NIH)PBX1
Genomic and cartography
GoldenPath hg38 (UCSC)PBX1  -     chr1:164559184-164851831 +  1q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PBX1  -     1q23.3   [Description]    (hg19-Feb_2009)
GoldenPathPBX1 - 1q23.3 [CytoView hg19]  PBX1 - 1q23.3 [CytoView hg38]
ImmunoBaseENSG00000185630
Genome Data Viewer NCBIPBX1 [Mapview hg19]  
OMIM176310   617641   
Gene and transcription
Genbank (Entrez)AK022520 AK022962 AK093508 AK291415 AK299673
RefSeq transcript (Entrez)NM_001204961 NM_001204963 NM_001353130 NM_001353131 NM_002585
Consensus coding sequences : CCDS (NCBI)PBX1
Gene ExpressionPBX1 [ NCBI-GEO ]   PBX1 [ EBI - ARRAY_EXPRESS ]   PBX1 [ SEEK ]   PBX1 [ MEM ]
Gene Expression Viewer (FireBrowse)PBX1 [ Firebrowse - Broad ]
GenevisibleExpression of PBX1 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
PhosPhoSitePlusP40424
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox-like_sf    Homeobox_CS    Homeobox_dom    PBX   
Domain families : Pfam (Sanger)Homeodomain (PF00046)    PBC (PF03792)   
Domain families : Pfam (NCBI)pfam00046    pfam03792   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)PBX1
PDB (RSDB)1B72    1PUF   
PDB Europe1B72    1PUF   
PDB (PDBSum)1B72    1PUF   
PDB (IMB)1B72    1PUF   
Structural Biology KnowledgeBase1B72    1PUF   
SCOP (Structural Classification of Proteins)1B72    1PUF   
CATH (Classification of proteins structures)1B72    1PUF   
SuperfamilyP40424
AlphaFold pdb e-kbP40424   
Human Protein Atlas [tissue]ENSG00000185630-PBX1 [tissue]
HPRD08889
Protein Interaction databases
DIP (DOE-UCLA)P40424
IntAct (EBI)P40424
BioGRIDPBX1
STRING (EMBL)PBX1
ZODIACPBX1
Ontologies - Pathways
QuickGOP40424
Ontology : AmiGOchromatin  transcription cis-regulatory region binding  RNA polymerase II transcription regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  eye development  branching involved in ureteric bud morphogenesis  natural killer cell differentiation  DNA binding  DNA-binding transcription factor activity  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  regulation of transcription by RNA polymerase II  steroid biosynthetic process  positive regulation of transcription of Notch receptor target  brain development  sex differentiation  positive regulation of cell population proliferation  animal organ morphogenesis  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 by RNA polymerase II  spleen development  thymus development  embryonic organ development  neuron development  embryonic skeletal system development  RNA polymerase II transcription regulator complex  sequence-specific double-stranded DNA binding  
Ontology : EGO-EBIchromatin  transcription cis-regulatory region binding  RNA polymerase II transcription regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  eye development  branching involved in ureteric bud morphogenesis  natural killer cell differentiation  DNA binding  DNA-binding transcription factor activity  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  regulation of transcription by RNA polymerase II  steroid biosynthetic process  positive regulation of transcription of Notch receptor target  brain development  sex differentiation  positive regulation of cell population proliferation  animal organ morphogenesis  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 by RNA polymerase II  spleen development  thymus development  embryonic organ development  neuron development  embryonic skeletal system development  RNA polymerase II transcription regulator complex  sequence-specific double-stranded DNA binding  
Pathways : KEGGTranscriptional misregulation in cancer   
REACTOMEP40424 [protein]
REACTOME PathwaysR-HSA-9013508 [pathway]   
NDEx NetworkPBX1
Atlas of Cancer Signalling NetworkPBX1
Wikipedia pathwaysPBX1
Orthology - Evolution
OrthoDB5087
GeneTree (enSembl)ENSG00000185630
Phylogenetic Trees/Animal Genes : TreeFamPBX1
Homologs : HomoloGenePBX1
Homology/Alignments : Family Browser (UCSC)PBX1
Gene fusions - Rearrangements
Fusion : MitelmanAFF1::PBX1 [4q21.3/1q23.3]  
Fusion : MitelmanEWSR1::PBX1 [22q12.2/1q23.3]  
Fusion : MitelmanPBX1::COPG2 [1q23.3/7q32.2]  
Fusion : MitelmanPBX1::CTNNA3 [1q23.3/10q21.3]  
Fusion : MitelmanPBX1::DHX40 [1q23.3/17q23.1]  
Fusion : MitelmanPBX1::DISC1 [1q23.3/1q42.2]  
Fusion : MitelmanPBX1::ILDR2 [1q23.3/1q24.1]  
Fusion : MitelmanPBX1::LRRC52 [1q23.3/1q24.1]  
Fusion : MitelmanPBX1::RHBG [1q23.3/1q22]  
Fusion : MitelmanTCF3::PBX1 [19p13.3/1q23.3]  
Fusion : MitelmanUCK2::PBX1 [1q24.1/1q23.3]  
Fusion : COSMICTCF3 [19p13.3]  -  PBX1 [1q23.3]  [fusion_1489]  [fusion_2121]  [fusion_2123]  [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 : QuiverPBX1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPBX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PBX1
dbVarPBX1
ClinVarPBX1
MonarchPBX1
1000_GenomesPBX1 
Exome Variant ServerPBX1
GNOMAD BrowserENSG00000185630
Varsome BrowserPBX1
ACMGPBX1 variants
VarityP40424
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]  
Somatic Mutations in Cancer : COSMIC3DPBX1
Mutations and Diseases : HGMDPBX1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPBX1
DgiDB (Drug Gene Interaction Database)PBX1
DoCM (Curated mutations)PBX1
CIViC (Clinical Interpretations of Variants in Cancer)PBX1
OncoKBPBX1
NCG (London)PBX1
Cancer3DPBX1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM176310    617641   
Orphanet14433   
DisGeNETPBX1
MedgenPBX1
Genetic Testing Registry PBX1
NextProtP40424 [Medical]
GENETestsPBX1
Target ValidationPBX1
Huge Navigator PBX1 [HugePedia]
ClinGenPBX1
Clinical trials, drugs, therapy
MyCancerGenomePBX1
Protein Interactions : CTDPBX1
Pharm GKB GenePA32970
PharosP40424
Clinical trialPBX1
Miscellaneous
canSAR (ICR)PBX1
HarmonizomePBX1
DataMed IndexPBX1
Probes
Litterature
PubMed153 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPBX1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 8 21:24:40 CEST 2021

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