Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PBX1

Identity

Other namesPRL
Hugo PBX1
Location 1q23

DNA/RNA

 
  c-PBX1at 1q23 in normal cells: PAC 953E11 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are wellcome: contact M Rocchi
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

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
  

External links

Nomenclature
HugoPBX1
GDBPBX1
Entrez_GenePBX1  5087  pre-B-cell leukemia homeobox 1
Cards
AtlasPBX1
GeneCardsPBX1
EnsemblPBX1 [Search_View]   ENSG00000185630 [Gene_View]
GenatlasPBX1
GeneLynxPBX1
eGenomePBX1
euGene5087
Genomic and cartography
GoldenPathPBX1  -  1q23   chr1:162795561-163082933 +  1q23   [Description]    (hg18-Mar_2006)
EnsemblPBX1 - 1q23 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGenePBX1
Gene and transcription
GenbankAK291415 [ ENTREZ ]
GenbankBC101578 [ ENTREZ ]
GenbankBT006705 [ ENTREZ ]
GenbankBX647313 [ ENTREZ ]
GenbankCR604075 [ ENTREZ ]
RefSeqNM_002585 [ SRS ]    NM_002585 [ ENTREZ ]
RefSeqAC_000044 [ SRS ]    AC_000044 [ ENTREZ ]
RefSeqNC_000001 [ SRS ]    NC_000001 [ ENTREZ ]
RefSeqNT_004487 [ SRS ]    NT_004487 [ ENTREZ ]
RefSeqNW_926128 [ SRS ]    NW_926128 [ ENTREZ ]
AceViewPBX1 AceView - NCBI
UnigeneHs.654412 [ SRS ]    Hs.654412 [ NCBI ]     HS654412 [ spliceNest ]
Fast-db17515 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtP40424 [ SRS]    P40424 [ EXPASY ]     P40424 [ INTERPRO ]
PrositePS00027 HOMEOBOX_1 [ SRS ]    PS00027 HOMEOBOX_1 [ Expasy ]
PrositePS50071 HOMEOBOX_2 [ SRS ]    PS50071 HOMEOBOX_2 [ Expasy ]
InterproIPR001356 Homeobox [ SRS ]    IPR001356 Homeobox [ EBI ]
InterproIPR012287 Homeodomain-rel [ SRS ]    IPR012287 Homeodomain-rel [ EBI ]
InterproIPR005542 PBX [ SRS ]    IPR005542 PBX [ EBI ]
CluSTrP40424
PfamPF00046 Homeobox [ SRS ]    PF00046 Homeobox [ Sanger ]    pfam00046 [ NCBI-CDD ]
PfamPF03792 PBC [ SRS ]    PF03792 PBC [ Sanger ]    pfam03792 [ NCBI-CDD ]
SmartSM00389 HOX [EMBL]
ProdomPD000010 Homeobox[INRA-Toulouse]
ProdomP40424 PBX1_HUMAN [ Domain structure ]   P40424 PBX1_HUMAN  [ sequences sharing at least 1 domain ]
BlocksP40424
PDB1B72 [ SRS ]    1B72 [ PdbSum ],   1B72 [ IMB ]   1B72 [ RSDB ]
PDB1PUF [ SRS ]    1PUF [ PdbSum ],   1PUF [ IMB ]   1PUF [ RSDB ]
HPRD08889
Protein Interaction databases
DIPP40424
IntActP40424
Polymorphism : SNP, mutations, diseases
OMIM176310    [ map ]   
GENECLINICS176310
SNPPBX1 [dbSNP-NCBI]  
SNPNM_002585 [SNP-NCI]  
SNPPBX1 [GeneSNPs - Utah]  PBX1] [HGBASE - SRS]
HAPMAPPBX1 [HAPMAP]  
COSMICPBX1 [Somatic mutation (COSMIC-CGP-Sanger)]  
TICdbPBX1 [Translocation breakpoints In Cancer]  
HGMDPBX1
General knowledge
Family BrowserPBX1 [UCSC Family Browser]
SOURCENM_002585
SMDHs.654412
SAGEHs.654412
GOtranscription factor activity [Amigo]  transcription factor activity
GOtranscription factor activity [Amigo]  transcription factor activity
GOprotein binding [Amigo]  protein binding
GOprotein binding [Amigo]  protein binding
GOnucleus [Amigo]  nucleus
GOnucleus [Amigo]  nucleus
GOregulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GOtranscription from RNA polymerase II promoter [Amigo]  transcription from RNA polymerase II promoter
GOC21-steroid hormone biosynthetic process [Amigo]  C21-steroid hormone biosynthetic process
GOsex determination [Amigo]  sex determination
GOembryonic development [Amigo]  embryonic development
GOcell differentiation [Amigo]  cell differentiation
GOhindbrain development [Amigo]  hindbrain development
GOsequence-specific DNA binding [Amigo]  sequence-specific DNA binding
GOregulation of transcriptional preinitiation complex assembly [Amigo]  regulation of transcriptional preinitiation complex assembly
PubGenePBX1
TreeFamPBX1
CTD5087 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbePBX1 at 1q23 in normal cells (Bari)
ProbePBX1 Related clones (RZPD - Berlin)
PubMed
PubMed41 Pubmed reference(s) in LocusLink

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
 
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
 
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
 
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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written10-1997Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . PBX1. Atlas Genet Cytogenet Oncol Haematol. October 1997 .
URL : http://AtlasGeneticsOncology.org/Genes/PBX1.html
Huret JL . PBX1. Atlas Genet Cytogenet Oncol Haematol. .
URL : http://AtlasGeneticsOncology.org/Genes/PBX1.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 2 08:25:54 2008


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

j.l.huret@chu-poitiers.fr.