Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PU.1

Identity

Other namesSPI-1
HGNC SPI1
Location 11p11-22

DNA/RNA

 
Description genomic locus around 50kb; 5 exons
Transcription 1,4kb. open reading frame (ORF): 991bp

Protein

 
Description 264 amino acids. DNA binding protein with a ETS consensus motif
Expression hematopoietic specific; mainly in B lymphocytes and myeloid lineages; faintly expressed in erythroid progenitors
Localisation nuclear
Function transcriptional regulator; specific DNA binding sites with a G/AGAA minimal element in promoter and enhancers of myeloid and B lymphoid genes; involved both in transcriptional regulation of genes and in splicing regulation of pre-mRNAs
Homology ETS genes family

Mutations

Germinal unknown
Somatic unknown in human pathologies and cancers; insertional mutagenesis in murine erythroleukemia

Implicated in

Entity Oncogenesis in mouse; mouse gene name: Spi-1 (SFFV Proviral Integration 1)
Disease murine acute erythroleukemia induced by the Friend retrovirus SFFV (Spleen Focus Forming Virus)
Prognosis 100%
Hybrid/Mutated Gene no
Abnormal Protein No; overexpression of the normal protein in the proerythroblast
  

External links

Nomenclature
HGNCSPI1   11241
Entrez_GeneSPI1  6688  spleen focus forming virus (SFFV) proviral integration oncogene spi1
Cards
AtlasSPI1ID269
GeneCardsSPI1
EnsemblSPI1 [Search_View]   ENSG00000066336 [Gene_View]
GenatlasSPI1
GeneLynxSPI1
eGenomeSPI1
euGene6688
Genomic and cartography
GoldenPathSPI1  -     chr11:47332985-47356703 -  11p12-p11.22   [Description]    (hg18-Mar_2006)
EnsemblSPI1 - 11p12-p11.22 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGeneSPI1
Gene and transcription
GenbankAK310065 [ ENTREZ ]
GenbankBC111379 [ ENTREZ ]
GenbankBI519776 [ ENTREZ ]
GenbankBI909430 [ ENTREZ ]
GenbankBM561863 [ ENTREZ ]
RefSeqNM_001080547 [ SRS ]    NM_001080547 [ ENTREZ ]
RefSeqNM_003120 [ SRS ]    NM_003120 [ ENTREZ ]
RefSeqAC_000054 [ SRS ]    AC_000054 [ ENTREZ ]
RefSeqAC_000143 [ SRS ]    AC_000143 [ ENTREZ ]
RefSeqNC_000011 [ SRS ]    NC_000011 [ ENTREZ ]
RefSeqNG_007667 [ SRS ]    NG_007667 [ ENTREZ ]
RefSeqNT_009237 [ SRS ]    NT_009237 [ ENTREZ ]
RefSeqNW_001838022 [ SRS ]    NW_001838022 [ ENTREZ ]
RefSeqNW_925006 [ SRS ]    NW_925006 [ ENTREZ ]
AceViewSPI1 AceView - NCBI
UnigeneHs.502511 [ SRS ]    Hs.502511 [ NCBI ]     HS502511 [ spliceNest ]
Fast-db6130 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtP17947 [ SRS]    P17947 [ EXPASY ]     P17947 [ INTERPRO ]     P17947 [ UNIPROT ]
PrositePS00345 ETS_DOMAIN_1 [ SRS ]    PS00345 ETS_DOMAIN_1 [ Expasy ]
PrositePS00346 ETS_DOMAIN_2 [ SRS ]    PS00346 ETS_DOMAIN_2 [ Expasy ]
PrositePS50061 ETS_DOMAIN_3 [ SRS ]    PS50061 ETS_DOMAIN_3 [ Expasy ]
InterproIPR000418 Ets [ SRS ]    IPR000418 Ets [ EBI ]
InterproIPR011991 Wing_hlx_DNA_bd [ SRS ]    IPR011991 Wing_hlx_DNA_bd [ EBI ]
CluSTrP17947
PfamPF00178 Ets [ SRS ]    PF00178 Ets [ Sanger ]    pfam00178 [ NCBI-CDD ]
SmartSM00413 ETS [EMBL]
BlocksP17947
HPRD01305
Protein Interaction databases
DIPP17947
IntActP17947
Polymorphism : SNP, mutations, diseases
OMIM165170    [ map ]   
GENECLINICS165170
SNPSPI1 [dbSNP-NCBI]  
SNPNM_001080547 [SNP-NCI]  
SNPNM_003120 [SNP-NCI]  
SNPSPI1 [GeneSNPs - Utah]  SPI1] [HGBASE - SRS]
HAPMAPSPI1 [HAPMAP]  
COSMICSPI1 [Somatic mutation (COSMIC-CGP-Sanger)]  
HGMDSPI1
General knowledge
Family BrowserSPI1 [UCSC Family Browser]
SOURCENM_001080547
SOURCENM_003120
SMDHs.502511
SAGEHs.502511
GOnegative regulation of transcription from RNA polymerase II promoter [Amigo]  negative regulation of transcription from RNA polymerase II promoter
GOtranscription factor activity [Amigo]  transcription factor activity
GOtranscription factor activity [Amigo]  transcription factor activity
GORNA binding [Amigo]  RNA binding
GOprotein binding [Amigo]  protein binding
GOnucleus [Amigo]  nucleus
GOtranscription [Amigo]  transcription
GOregulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GOpositive regulation of gene-specific transcription [Amigo]  positive regulation of gene-specific transcription
GOsequence-specific DNA binding [Amigo]  sequence-specific DNA binding
GOregulation of erythrocyte differentiation [Amigo]  regulation of erythrocyte differentiation
PubGeneSPI1
TreeFamSPI1
CTD6688 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeSPI1 Related clones (RZPD - Berlin)
PubMed
PubMed79 Pubmed reference(s) in LocusLink

Bibliography

Spi-1 is a putative oncogene in virally induced murine erythroleukaemias.
Moreau-Gachelin F, Tavitian A, Tambourin P
Nature. 1988 ; 331 (6153) : 277-280.
PMID 2827041
 
The macrophage and B cell-specific transcription factor PU.1 is related to the ets oncogene.
Klemsz MJ, McKercher SR, Celada A, Van Beveren C, Maki RA
Cell. 1990 ; 61 (1) : 113-124.
PMID 2180582
 
Targeted disruption of the PU.1 gene results in multiple hematopoietic abnormalities.
McKercher SR, Torbett BE, Anderson KL, Henkel GW, Vestal DJ, Baribault H, Klemsz M, Feeney AJ, Wu GE, Paige CJ, Maki RA
The EMBO journal. 1996 ; 15 (20) : 5647-5658.
PMID 8896458
 
Spi-1/PU.1 transgenic mice develop multistep erythroleukemias.
Moreau-Gachelin F, Wendling F, Molina T, Denis N, Titeux M, Grimber G, Briand P, Vainchenker W, Tavitian A
Molecular and cellular biology. 1996 ; 16 (5) : 2453-2463.
PMID 8628313
 
PU.1 functions in a cell-autonomous manner to control the differentiation of multipotential lymphoid-myeloid progenitors.
Scott EW, Fisher RC, Olson MC, Kehrli EW, Simon MC, Singh H
Immunity. 1997 ; 6 (4) : 437-447.
PMID 9133423
 
The transcription factor Spi-1/PU.1 interacts with the potential splicing factor TLS.
Hallier M, Lerga A, Barnache S, Tavitian A, Moreau-Gachelin F
The Journal of biological chemistry. 1998 ; 273 (9) : 4838-4842.
PMID 9478924
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written11-2000Françoise Moreau-Gachelin
INSERM U528, Laboratoire de Transduction du Signal et Oncogenèse, Section de Recherche -Institut Curie, 26, rue d'Ulm, 75 248 Paris cedex 05, France

Citation

This paper should be referenced as such :
Moreau-Gachelin F . PU.1. Atlas Genet Cytogenet Oncol Haematol. November 2000 .
URL : http://AtlasGeneticsOncology.org/Genes/SPI1ID269.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 11 21:17:39 2008


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