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

2000-11-01   Françoise Moreau-Gachelin 

INSERM U528, Laboratoire de Transduction du Signal et Oncogenöse, Section de Recherche -Institut Curie, 26, rue dUlm, 75 248 Paris cedex 05, France

Identity

HGNC
LOCATION
11p11.2
LOCUSID
ALIAS
OF,PU.1,SFPI1,SPI-1,SPI-A
FUSION GENES

DNA/RNA

Atlas Image

Description

genomic locus around 50kb; 5 exons

Transcription

1,4kb. open reading frame (ORF): 991bp

Proteins

Atlas Image

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 name
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 gene
no
Fusion protein
No; overexpression of the normal protein in the proerythroblast

Bibliography

Pubmed IDLast YearTitleAuthors
94789241998The transcription factor Spi-1/PU.1 interacts with the potential splicing factor TLS.Hallier M et al
21805821990The macrophage and B cell-specific transcription factor PU.1 is related to the ets oncogene.Klemsz MJ et al
88964581996Targeted disruption of the PU.1 gene results in multiple hematopoietic abnormalities.McKercher SR et al
86283131996Spi-1/PU.1 transgenic mice develop multistep erythroleukemias.Moreau-Gachelin F et al
91334231997PU.1 functions in a cell-autonomous manner to control the differentiation of multipotential lymphoid-myeloid progenitors.Scott EW et al

Other Information

Locus ID:

NCBI: 6688
MIM: 165170
HGNC: 11241
Ensembl: ENSG00000066336

Variants:

dbSNP: 6688
ClinVar: 6688
TCGA: ENSG00000066336
COSMIC: SPI1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000066336ENST00000227163P17947
ENSG00000066336ENST00000378538P17947
ENSG00000066336ENST00000533030F5GZ94
ENSG00000066336ENST00000533968F5H3K6

Expression (GTEx)

0
100
200
300
400
500
600
700
800
900

Pathways

PathwaySourceExternal ID
Acute myeloid leukemiaKEGGko05221
Pathways in cancerKEGGhsa05200
Acute myeloid leukemiaKEGGhsa05221
Osteoclast differentiationKEGGko04380
Osteoclast differentiationKEGGhsa04380
HTLV-I infectionKEGGko05166
HTLV-I infectionKEGGhsa05166
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
Epstein-Barr virus infectionKEGGhsa05169
Epstein-Barr virus infectionKEGGko05169

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
153044862004Essential role of p38 mitogen-activated protein kinase in cathepsin K gene expression during osteoclastogenesis through association of NFATc1 and PU.1.114
180566382007The interplay between the master transcription factor PU.1 and miR-424 regulates human monocyte/macrophage differentiation.110
249083892014TH9 cells that express the transcription factor PU.1 drive T cell-mediated colitis via IL-9 receptor signaling in intestinal epithelial cells.98
286281032017A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.77
186768132008PU.1 expression is modulated by the balance of functional sense and antisense RNAs regulated by a shared cis-regulatory element.74
183164802008Methylation of RUNX1 by PRMT1 abrogates SIN3A binding and potentiates its transcriptional activity.68
240287702013PU.1 target genes undergo Tet2-coupled demethylation and DNMT3b-mediated methylation in monocyte-to-osteoclast differentiation.63
123934652003The myeloid master regulator transcription factor PU.1 is inactivated by AML1-ETO in t(8;21) myeloid leukemia.60
163528142006ATRA resolves the differentiation block in t(15;17) acute myeloid leukemia by restoring PU.1 expression.60
121305142002Heterozygous PU.1 mutations are associated with acute myeloid leukemia.56

Citation

Françoise Moreau-Gachelin

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

Atlas Genet Cytogenet Oncol Haematol. 2000-11-01

Online version: http://atlasgeneticsoncology.org/gene/269/spi1