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
SPI1
LOCATION
11p11.2
LOCUSID
6688
ALIAS
OF,PU.1,SFPI1,SPI-1,SPI-A
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
379667082024Role of LINC00240 on T-helper 9 differentiation in allergic rhinitis through influencing DNMT1-dependent methylation of PU.1.0
380787332024Transcriptional regulation of the HIV-1 inhibitory factor human mannose receptor 1 by the myeloid-specific transcription factor PU.1.0
389514922024HIV-1 Vpr combats the PU.1-driven antiviral response in primary human macrophages.0
379667082024Role of LINC00240 on T-helper 9 differentiation in allergic rhinitis through influencing DNMT1-dependent methylation of PU.1.0
380787332024Transcriptional regulation of the HIV-1 inhibitory factor human mannose receptor 1 by the myeloid-specific transcription factor PU.1.0
389514922024HIV-1 Vpr combats the PU.1-driven antiviral response in primary human macrophages.0
366485912023PU.1 negatively regulates tumorigenesis in non-small-cell lung cancer.0
366889972023LINC01004-SPI1 axis-activated SIGLEC9 in tumor-associated macrophages induces radioresistance and the formation of immunosuppressive tumor microenvironment in esophageal squamous cell carcinoma.6
369677182023SPI1 Mediates N-Myristoyltransferase 1 to Advance Gastric Cancer Progression via PI3K/AKT/mTOR Pathway.2
370128592023SPI1-mediated autophagy of peripheral blood monocyte cells as a mechanism for sepsis based on single-cell RNA sequencing.3
372776712023SPI1 Regulates the Progression of Ankylosing Spondylitis by Modulating TLR5 via NF-κB Signaling.2
366485912023PU.1 negatively regulates tumorigenesis in non-small-cell lung cancer.0
366889972023LINC01004-SPI1 axis-activated SIGLEC9 in tumor-associated macrophages induces radioresistance and the formation of immunosuppressive tumor microenvironment in esophageal squamous cell carcinoma.6
369677182023SPI1 Mediates N-Myristoyltransferase 1 to Advance Gastric Cancer Progression via PI3K/AKT/mTOR Pathway.2
370128592023SPI1-mediated autophagy of peripheral blood monocyte cells as a mechanism for sepsis based on single-cell RNA sequencing.3

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/favicon/gene-fusions/js/template.js