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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

Alias (NCBI)PU.1
SPI-1
HGNC (Hugo) SPI1
HGNC Alias symbPU.1
SPI-A
OF
SFPI1
SPI-1
HGNC Alias namehematopoietic transcription factor PU.1
 31 kDa transforming protein
HGNC Previous namespleen focus forming virus (SFFV) proviral integration oncogene
LocusID (NCBI) 6688
Atlas_Id 269
Location 11p11.2  [Link to chromosome band 11p11]
Location_base_pair Starts at 47354860 and ends at 47378547 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping SPI1.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)
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 ]


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(2;8)(p23;p11) KAT6A::ASXL2
t(14;19)(q32;q13) IGH::Various Partners
t(1;11)(p36;p11) STMN1::SPI1
t(5;11)(q31;p11) TCF7::SPI1


External links

 

Nomenclature
HGNC (Hugo)SPI1   11241
Cards
AtlasSPI1ID269
Entrez_Gene (NCBI)SPI1    Spi-1 proto-oncogene
AliasesOF; PU.1; SFPI1; SPI-1; 
SPI-A
GeneCards (Weizmann)SPI1
Ensembl hg19 (Hinxton)ENSG00000066336 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000066336 [Gene_View]  ENSG00000066336 [Sequence]  chr11:47354860-47378547 [Contig_View]  SPI1 [Vega]
ICGC DataPortalENSG00000066336
TCGA cBioPortalSPI1
AceView (NCBI)SPI1
Genatlas (Paris)SPI1
SOURCE (Princeton)SPI1
Genetics Home Reference (NIH)SPI1
Genomic and cartography
GoldenPath hg38 (UCSC)SPI1  -     chr11:47354860-47378547 -  11p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPI1  -     11p11.2   [Description]    (hg19-Feb_2009)
GoldenPathSPI1 - 11p11.2 [CytoView hg19]  SPI1 - 11p11.2 [CytoView hg38]
ImmunoBaseENSG00000066336
Genome Data Viewer NCBISPI1 [Mapview hg19]  
OMIM165170   
Gene and transcription
Genbank (Entrez)AK310065 BI519776 BI909430 BM561863 BP271276
RefSeq transcript (Entrez)NM_001080547 NM_003120
Consensus coding sequences : CCDS (NCBI)SPI1
Gene ExpressionSPI1 [ NCBI-GEO ]   SPI1 [ EBI - ARRAY_EXPRESS ]   SPI1 [ SEEK ]   SPI1 [ MEM ]
Gene Expression Viewer (FireBrowse)SPI1 [ Firebrowse - Broad ]
GenevisibleExpression of SPI1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6688
GTEX Portal (Tissue expression)SPI1
Human Protein AtlasENSG00000066336-SPI1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17947   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP17947  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP17947
PhosPhoSitePlusP17947
Domaine pattern : Prosite (Expaxy)ETS_DOMAIN_1 (PS00345)    ETS_DOMAIN_2 (PS00346)    ETS_DOMAIN_3 (PS50061)   
Domains : Interpro (EBI)Ets_dom    WH-like_DNA-bd_sf    WH_DNA-bd_sf   
Domain families : Pfam (Sanger)Ets (PF00178)   
Domain families : Pfam (NCBI)pfam00178   
Domain families : Smart (EMBL)ETS (SM00413)  
Conserved Domain (NCBI)SPI1
SuperfamilyP17947
AlphaFold pdb e-kbP17947   
Human Protein Atlas [tissue]ENSG00000066336-SPI1 [tissue]
HPRD01305
Protein Interaction databases
DIP (DOE-UCLA)P17947
IntAct (EBI)P17947
BioGRIDSPI1
STRING (EMBL)SPI1
ZODIACSPI1
Ontologies - Pathways
QuickGOP17947
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  chromatin  chromatin  transcription cis-regulatory region binding  transcription cis-regulatory region binding  RNA polymerase II cis-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  cis-regulatory region sequence-specific DNA binding  cis-regulatory region sequence-specific DNA binding  DNA-binding transcription activator activity  DNA-binding transcription repressor activity  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  germinal center B cell differentiation  follicular B cell differentiation  immature B cell differentiation  defense response to tumor cell  pro-T cell differentiation  myeloid leukocyte differentiation  chromatin binding  DNA-binding transcription factor activity  DNA-binding transcription factor activity  RNA binding  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  transcription regulator complex  regulation of transcription, DNA-templated  regulation of transcription by RNA polymerase II  transforming growth factor beta receptor signaling pathway  transcription factor binding  positive regulation of gene expression  negative regulation of gene expression  cell differentiation  erythrocyte differentiation  macrophage differentiation  granulocyte differentiation  lipopolysaccharide-mediated signaling pathway  negative regulation of NF-kappaB transcription factor activity  chromatin organization involved in regulation of transcription  somatic stem cell population maintenance  TRAIL-activated apoptotic signaling pathway  histone deacetylase binding  myeloid dendritic cell differentiation  negative regulation of neutrophil degranulation  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  negative regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  regulation of DNA-binding transcription factor activity  NFAT protein binding  anatomical structure regression  RNA polymerase II-specific DNA-binding transcription factor binding  RNA polymerase II-specific DNA-binding transcription factor binding  interleukin-6-mediated signaling pathway  cellular response to ethanol  negative regulation of histone H4 acetylation  oncogene-induced cell senescence  endothelial to hematopoietic transition  negative regulation of protein localization to chromatin  DNA-binding transcription factor binding  DNA-binding transcription factor binding  protein sequestering activity  positive regulation of p38MAPK cascade  negative regulation of NIK/NF-kappaB signaling  regulation of histone H3-K27 acetylation  apoptotic process involved in blood vessel morphogenesis  positive regulation of pri-miRNA transcription by RNA polymerase II  positive regulation of pri-miRNA transcription by RNA polymerase II  positive regulation of microglial cell mediated cytotoxicity  negative regulation of adipose tissue development  pericyte cell differentiation  positive regulation of antifungal innate immune response  regulation of myeloid progenitor cell differentiation  positive regulation of myeloid dendritic cell chemotaxis  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  chromatin  chromatin  transcription cis-regulatory region binding  transcription cis-regulatory region binding  RNA polymerase II cis-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  cis-regulatory region sequence-specific DNA binding  cis-regulatory region sequence-specific DNA binding  DNA-binding transcription activator activity  DNA-binding transcription repressor activity  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  germinal center B cell differentiation  follicular B cell differentiation  immature B cell differentiation  defense response to tumor cell  pro-T cell differentiation  myeloid leukocyte differentiation  chromatin binding  DNA-binding transcription factor activity  DNA-binding transcription factor activity  RNA binding  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  transcription regulator complex  regulation of transcription, DNA-templated  regulation of transcription by RNA polymerase II  transforming growth factor beta receptor signaling pathway  transcription factor binding  positive regulation of gene expression  negative regulation of gene expression  cell differentiation  erythrocyte differentiation  macrophage differentiation  granulocyte differentiation  lipopolysaccharide-mediated signaling pathway  negative regulation of NF-kappaB transcription factor activity  chromatin organization involved in regulation of transcription  somatic stem cell population maintenance  TRAIL-activated apoptotic signaling pathway  histone deacetylase binding  myeloid dendritic cell differentiation  negative regulation of neutrophil degranulation  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  negative regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  regulation of DNA-binding transcription factor activity  NFAT protein binding  anatomical structure regression  RNA polymerase II-specific DNA-binding transcription factor binding  RNA polymerase II-specific DNA-binding transcription factor binding  interleukin-6-mediated signaling pathway  cellular response to ethanol  negative regulation of histone H4 acetylation  oncogene-induced cell senescence  endothelial to hematopoietic transition  negative regulation of protein localization to chromatin  DNA-binding transcription factor binding  DNA-binding transcription factor binding  protein sequestering activity  positive regulation of p38MAPK cascade  negative regulation of NIK/NF-kappaB signaling  regulation of histone H3-K27 acetylation  apoptotic process involved in blood vessel morphogenesis  positive regulation of pri-miRNA transcription by RNA polymerase II  positive regulation of pri-miRNA transcription by RNA polymerase II  positive regulation of microglial cell mediated cytotoxicity  negative regulation of adipose tissue development  pericyte cell differentiation  positive regulation of antifungal innate immune response  regulation of myeloid progenitor cell differentiation  positive regulation of myeloid dendritic cell chemotaxis  
Pathways : KEGGOsteoclast differentiation    HTLV-I infection    Epstein-Barr virus infection    Pathways in cancer    Transcriptional misregulation in cancer    Acute myeloid leukemia   
REACTOMEP17947 [protein]
REACTOME PathwaysR-HSA-8939236 [pathway]   
NDEx NetworkSPI1
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]  
Fusion : QuiverSPI1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPI1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPI1
dbVarSPI1
ClinVarSPI1
MonarchSPI1
1000_GenomesSPI1 
Exome Variant ServerSPI1
GNOMAD BrowserENSG00000066336
Varsome BrowserSPI1
ACMGSPI1 variants
VarityP17947
Genomic Variants (DGV)SPI1 [DGVbeta]
DECIPHERSPI1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPI1 
Mutations
ICGC Data PortalSPI1 
TCGA Data PortalSPI1 
Broad Tumor PortalSPI1
OASIS PortalSPI1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPI1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSPI1
Mutations and Diseases : HGMDSPI1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSPI1
DgiDB (Drug Gene Interaction Database)SPI1
DoCM (Curated mutations)SPI1
CIViC (Clinical Interpretations of Variants in Cancer)SPI1
NCG (London)SPI1
Cancer3DSPI1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM165170   
Orphanet
DisGeNETSPI1
MedgenSPI1
Genetic Testing Registry SPI1
NextProtP17947 [Medical]
GENETestsSPI1
Target ValidationSPI1
Huge Navigator SPI1 [HugePedia]
ClinGenSPI1
Clinical trials, drugs, therapy
MyCancerGenomeSPI1
Protein Interactions : CTDSPI1
Pharm GKB GenePA36071
PharosP17947
Clinical trialSPI1
Miscellaneous
canSAR (ICR)SPI1
HarmonizomeSPI1
DataMed IndexSPI1
Probes
Litterature
PubMed246 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSPI1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 8 21:28:35 CEST 2021

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