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

Written2000-11Françoise Moreau-Gachelin
INSERM U528, Laboratoire de Transduction du Signal et Oncogenöse, Section de Recherche -Institut Curie, 26, rue d'Ulm, 75 248 Paris cedex 05, France

(Note : for Links provided by Atlas : click)

Identity

Other namesPU.1
SPI-1
HGNC (Hugo) SPI1
LocusID (NCBI) 6688
Atlas_Id 269
Location 11p11.2  [Link to chromosome band 11p11]
Location_base_pair Starts at 47376409 and ends at 47400127 bp from pter ( according to hg19-Feb_2009)  [Mapping SPI1.png]
Fusion genes
(updated 2016)
ERC1 (12p13.33) / SPI1 (11p11.2)SPI1 (11p11.2) / SPI1 (11p11.2)

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

Note
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
  

Bibliography

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
 
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
 

Citation

This paper should be referenced as such :
Moreau-Gachelin, F
PU.1 (hematopoietic transcription factor PU.1)
Atlas Genet Cytogenet Oncol Haematol. 2001;5(1):7-8.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/SPI1ID269.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(2;8)(p23;p11) KAT6A/ASXL2

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 0 ]
  Lung: Translocations in Squamous Cell Carcinoma

External links

Nomenclature
HGNC (Hugo)SPI1   11241
Cards
AtlasSPI1ID269
Entrez_Gene (NCBI)SPI1  6688  Spi-1 proto-oncogene
AliasesOF; PU.1; SFPI1; SPI-1; 
SPI-A
GeneCards (Weizmann)SPI1
Ensembl hg19 (Hinxton)ENSG00000066336 [Gene_View]  chr11:47376409-47400127 [Contig_View]  SPI1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000066336 [Gene_View]  chr11:47376409-47400127 [Contig_View]  SPI1 [Vega]
ICGC DataPortalENSG00000066336
TCGA cBioPortalSPI1
AceView (NCBI)SPI1
Genatlas (Paris)SPI1
WikiGenes6688
SOURCE (Princeton)SPI1
Genomic and cartography
GoldenPath hg19 (UCSC)SPI1  -     chr11:47376409-47400127 -  11p12-p11.22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SPI1  -     11p12-p11.22   [Description]    (hg38-Dec_2013)
EnsemblSPI1 - 11p12-p11.22 [CytoView hg19]  SPI1 - 11p12-p11.22 [CytoView hg38]
Mapping of homologs : NCBISPI1 [Mapview hg19]  SPI1 [Mapview hg38]
OMIM165170   
Gene and transcription
Genbank (Entrez)AK310065 BC111379 BI519776 BI909430 BM561863
RefSeq transcript (Entrez)NM_001080547 NM_003120
RefSeq genomic (Entrez)NC_000011 NC_018922 NT_009237 NW_004929378
Consensus coding sequences : CCDS (NCBI)SPI1
Cluster EST : UnigeneHs.502511 [ NCBI ]
CGAP (NCI)Hs.502511
Alternative Splicing GalleryENSG00000066336
Gene ExpressionSPI1 [ NCBI-GEO ]   SPI1 [ EBI - ARRAY_EXPRESS ]   SPI1 [ SEEK ]   SPI1 [ MEM ]
Gene Expression Viewer (FireBrowse)SPI1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6688
GTEX Portal (Tissue expression)SPI1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17947 (Uniprot)
NextProtP17947  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP17947
Splice isoforms : SwissVarP17947 (Swissvar)
PhosPhoSitePlusP17947
Domaine pattern : Prosite (Expaxy)ETS_DOMAIN_1 (PS00345)    ETS_DOMAIN_2 (PS00346)    ETS_DOMAIN_3 (PS50061)   
Domains : Interpro (EBI)Ets_dom    WHTH_DNA-bd_dom   
Domain families : Pfam (Sanger)Ets (PF00178)   
Domain families : Pfam (NCBI)pfam00178   
Domain families : Smart (EMBL)ETS (SM00413)  
DMDM Disease mutations6688
Blocks (Seattle)SPI1
SuperfamilyP17947
Human Protein AtlasENSG00000066336
Peptide AtlasP17947
HPRD01305
IPIIPI00018333   IPI00827738   IPI01014372   IPI01014909   
Protein Interaction databases
DIP (DOE-UCLA)P17947
IntAct (EBI)P17947
FunCoupENSG00000066336
BioGRIDSPI1
STRING (EMBL)SPI1
ZODIACSPI1
Ontologies - Pathways
QuickGOP17947
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II core promoter sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  core promoter binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II transcription factor binding  transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding  lymphoid progenitor cell differentiation  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  RNA binding  protein binding  transcription from RNA polymerase II promoter  lymphocyte differentiation  erythrocyte differentiation  macrophage differentiation  granulocyte differentiation  somatic stem cell population maintenance  myeloid dendritic cell differentiation  histone H3 acetylation  hypermethylation of CpG island  negative regulation of MHC class II biosynthetic process  regulation of erythrocyte differentiation  negative regulation of gene expression, epigenetic  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  NFAT protein binding  anatomical structure regression  cellular response to ethanol  negative regulation of histone H4 acetylation  apoptotic process involved in patterning of blood vessels  positive regulation of pri-miRNA transcription from RNA polymerase II promoter  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II core promoter sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  core promoter binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II transcription factor binding  transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding  lymphoid progenitor cell differentiation  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  RNA binding  protein binding  transcription from RNA polymerase II promoter  lymphocyte differentiation  erythrocyte differentiation  macrophage differentiation  granulocyte differentiation  somatic stem cell population maintenance  myeloid dendritic cell differentiation  histone H3 acetylation  hypermethylation of CpG island  negative regulation of MHC class II biosynthetic process  regulation of erythrocyte differentiation  negative regulation of gene expression, epigenetic  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  NFAT protein binding  anatomical structure regression  cellular response to ethanol  negative regulation of histone H4 acetylation  apoptotic process involved in patterning of blood vessels  positive regulation of pri-miRNA transcription from RNA polymerase II promoter  
Pathways : KEGGOsteoclast differentiation    HTLV-I infection    Epstein-Barr virus infection    Pathways in cancer    Transcriptional misregulation in cancer    Acute myeloid leukemia   
NDEx Network
Atlas of Cancer Signalling NetworkSPI1
Wikipedia pathwaysSPI1
Orthology - Evolution
OrthoDB6688
GeneTree (enSembl)ENSG00000066336
Phylogenetic Trees/Animal Genes : TreeFamSPI1
Homologs : HomoloGeneSPI1
Homology/Alignments : Family Browser (UCSC)SPI1
Gene fusions - Rearrangements
Fusion : MitelmanERC1/SPI1 [12p13.33/11p11.2]  [t(11;12)(p11;p13)]  
Polymorphisms : SNP, variants
NCBI Variation ViewerSPI1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPI1
dbVarSPI1
ClinVarSPI1
1000_GenomesSPI1 
Exome Variant ServerSPI1
ExAC (Exome Aggregation Consortium)SPI1 (select the gene name)
Genetic variants : HAPMAP6688
Genomic Variants (DGV)SPI1 [DGVbeta]
Mutations
ICGC Data PortalSPI1 
TCGA Data PortalSPI1 
Broad Tumor PortalSPI1
OASIS PortalSPI1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPI1 
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 SPI1
DgiDB (Drug Gene Interaction Database)SPI1
DoCM (Curated mutations)SPI1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPI1 (select a term)
intoGenSPI1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:47376409-47400127  ENSG00000066336
CONAN: Copy Number AnalysisSPI1 
Mutations and Diseases : HGMDSPI1
OMIM165170   
MedgenSPI1
Genetic Testing Registry SPI1
NextProtP17947 [Medical]
TSGene6688
GENETestsSPI1
Huge Navigator SPI1 [HugePedia]
snp3D : Map Gene to Disease6688
BioCentury BCIQSPI1
ClinGenSPI1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6688
Chemical/Pharm GKB GenePA36071
Clinical trialSPI1
Miscellaneous
canSAR (ICR)SPI1 (select the gene name)
Probes
Litterature
PubMed176 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPI1
EVEXSPI1
GoPubMedSPI1
iHOPSPI1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Aug 10 18:44:46 CEST 2016

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