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SPI1 (spleen focus forming virus (SFFV) proviral integration oncogene spi1)

Identity

Other namesPU.1
SPI-1
HGNC (Hugo) SPI1
LocusID (NCBI) 6688
Location 11p11-22
Location_base_pair Starts at 47376409 and ends at 47400127 bp from pter ( according to hg19-Feb_2009)  [Mapping]

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
HGNC (Hugo)SPI1   11241
Entrez_Gene (NCBI)SPI1  6688  spleen focus forming virus (SFFV) proviral integration oncogene spi1
Cards
AtlasSPI1ID269
GeneCards (Weizmann)SPI1
Ensembl (Hinxton)ENSG00000066336 [Gene_View]  chr11:47376409-47400127 [Contig_View]  SPI1 [Vega]
AceView (NCBI)SPI1
Genatlas (Paris)SPI1
euGene (Indiana)6688
SOURCE (Stanford)NM_001080547 NM_003120
Genomic and cartography
GoldenPath (UCSC)SPI1  -     chr11:47376409-47400127 -  11p11.2   [Description]    (hg19-Feb_2009)
EnsemblSPI1 - 11p11.2 [CytoView]
Mapping of homologs : NCBISPI1 [Mapview]
OMIM165170   
Gene and transcription
Genbank (Entrez)AK310065 BC111379 BI519776 BI909430 BM561863
RefSeq transcript (SRS)NM_001080547 NM_003120
RefSeq transcript (Entrez)NM_001080547 NM_003120
RefSeq genomic (SRS)AC_000143 NC_000011 NG_007667 NT_009237 NW_001838022
RefSeq genomic (Entrez)AC_000143 NC_000011 NG_007667 NT_009237 NW_001838022
Consensus coding sequences : CCDS (NCBI)SPI1
Cluster EST : UnigeneHs.502511 [ SRS ] Hs.502511 [ NCBI ]
Alternative Splicing : Fast-db (Paris)6130
Alternative Splicing GalleryENSG00000066336
Gene ExpressionSPI1 [ NCBI-GEO ]   SPI1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17947 (SRS) P17947 (Uniprot)
With graphics : InterProP17947
Splice isoforms : SwissVarP17947(Swissvar)
Domaine pattern : Prosite (SRS)ETS_DOMAIN_1 (PS00345)    ETS_DOMAIN_2 (PS00346)    ETS_DOMAIN_3 (PS50061)   
Domaine pattern : Prosite (Expaxy)ETS_DOMAIN_1 (PS00345)    ETS_DOMAIN_2 (PS00346)    ETS_DOMAIN_3 (PS50061)   
Domains : Interpro (SRS)Ets    WHTH_trsnscrt_rep_DNA-bd   
Domains : Interpro (EBI)Ets    WHTH_trsnscrt_rep_DNA-bd   
Related proteins : CluSTrP17947
Domain families : Pfam (SRS)Ets (PF00178)   
Domain families : Pfam (Sanger)Ets (PF00178)   
Domain families : Pfam (NCBI)pfam00178   
Domain families : Smart (EMBL)ETS (SM00413)  
Blocks (Seattle)P17947
Human Protein AtlasENSG00000066336
HPRD01305
IPIIPI00018333   IPI00827738   IPI01014372   IPI01014909   
Protein Interaction databases
DIP (DOE-UCLA)P17947
IntAct (EBI)P17947
FunCoupENSG00000066336
REACTOMESPI1
BioGRIDSPI1
InParanoidP17947
Interologous Interaction database P17947
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SPI1
SNP (GeneSNP Utah)SPI1
SNP : HGBaseSPI1
Genetic variants : HAPMAPSPI1
Somatic Mutations in Cancer : COSMICSPI1 
CONAN: Copy Number AnalysisSPI1 
Mutations and Diseases : HGMDSPI1
OMIM165170   
GENETests165170   
Disease Genetic AssociationSPI1
Huge Navigator SPI1 [HugePedia]  SPI1 [HugeCancerGEM]
Genomic VariantsSPI1
snp3D : Map Gene to Disease6688
General knowledge
Homologs : HomoloGeneSPI1
Homology/Alignments : Family Browser (UCSC)SPI1
Phylogenetic Trees/Animal Genes : TreeFamSPI1
Chemical/Protein Interactions : CTD6688
Chemical/Pharm GKB GenePA36071
Clinical trialSPI1
Cancer Resource (Charite)ENSG00000066336
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II distal enhancer sequence-specific DNA binding  core promoter binding  RNA polymerase II transcription factor binding  sequence-specific DNA binding transcription factor activity  sequence-specific distal enhancer binding RNA polymerase II transcription factor activity  RNA binding  protein binding  nucleus  sequence-specific DNA binding  histone H3 acetylation  hypermethylation of CpG island  regulation of erythrocyte differentiation  negative regulation of gene expression, epigenetic  negative regulation of transcription, DNA-dependent  positive regulation of transcription, DNA-dependent  positive regulation of transcription from RNA polymerase II promoter  NFAT2 protein binding  negative regulation of histone H4 acetylation  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II distal enhancer sequence-specific DNA binding  core promoter binding  RNA polymerase II transcription factor binding  sequence-specific DNA binding transcription factor activity  sequence-specific distal enhancer binding RNA polymerase II transcription factor activity  RNA binding  protein binding  nucleus  sequence-specific DNA binding  histone H3 acetylation  hypermethylation of CpG island  regulation of erythrocyte differentiation  negative regulation of gene expression, epigenetic  negative regulation of transcription, DNA-dependent  positive regulation of transcription, DNA-dependent  positive regulation of transcription from RNA polymerase II promoter  NFAT2 protein binding  negative regulation of histone H4 acetylation  
Other databases
Probes
Probes : ImagenesSPI1 Related clones (RZPD - Berlin)
Litterature
PubMed126 Pubmed reference(s) in Entrez
PubGeneSPI1
iHOPSPI1

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

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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 . SPI1 (spleen focus forming virus (SFFV) proviral integration oncogene spi1). Atlas Genet Cytogenet Oncol Haematol. November 2000 .
URL : http://AtlasGeneticsOncology.org/Genes/SPI1ID269.html

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/37690/1/11-2000-SPI1ID269.pdf   [ Bibliographic record ]

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indexed on : Sat Apr 28 14:59:15 CEST 2012

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