SPI1

This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Spi-1 Proto-Oncogene

Pioneer transcription factor, which controls hematopoietic cell fate by decompacting stem cell heterochromatin and allowing other transcription factors to enter otherwise inaccessible genomic sites. Once in open chromatin, can directly control gene expression by binding genetic regulatory elements and can also more broadly influence transcription by recruiting transcription factors, such as interferon regulatory factors (IRFs), to otherwise inaccessible genomic regions (PubMed:23658224, PubMed:33951726).
Transcriptionally activates genes important for myeloid and lymphoid lineages, such as CSF1R (By similarity).
Transcriptional activation from certain promoters, possibly containing low affinity binding sites, is achieved cooperatively with other transcription factors. FCER1A transactivation is achieved in cooperation with GATA1 (By similarity).
May be particularly important for the pro- to pre-B cell transition (PubMed:33951726).
Binds (via the ETS domain) onto the purine-rich DNA core sequence 5'-GAGGAA-3', also known as the PU-box (PubMed:33951726).
In vitro can bind RNA and interfere with pre-mRNA splicing (By similarity).

Biological Process anatomical structure regressionIEA:Ensembl
Biological Process apoptotic process involved in blood vessel morphogenesisIEA:Ensembl
Biological Process cell differentiationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process defense response to tumor cellManual Assertion Based On ExperimentIMP:ARUK-UCL
Biological Process endothelial to hematopoietic transitionISS:ARUK-UCL
Biological Process erythrocyte differentiationIEA:Ensembl
Biological Process follicular B cell differentiationIEA:Ensembl
Biological Process germinal center B cell differentiationIEA:Ensembl
Biological Process granulocyte differentiationIEA:Ensembl
Biological Process histone H3 acetylationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process hypermethylation of CpG islandManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process immature B cell differentiationIEA:Ensembl
Biological Process interleukin-6-mediated signaling pathwayManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process lipopolysaccharide-mediated signaling pathwayIEA:Ensembl
Biological Process macrophage differentiationIEA:Ensembl
Biological Process myeloid dendritic cell differentiationIEA:Ensembl
Biological Process myeloid leukocyte differentiationManual Assertion Based On ExperimentIMP:ARUK-UCL
Biological Process negative regulation of adipose tissue developmentISS:ARUK-UCL
Biological Process negative regulation of DNA-templated transcriptionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of gene expressionManual Assertion Based On ExperimentIMP:ARUK-UCL
Biological Process negative regulation of gene expression, epigeneticManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of histone H4 acetylationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process negative regulation of MHC class II biosynthetic processIEA:Ensembl
Biological Process negative regulation of neutrophil degranulationISS:ARUK-UCL
Biological Process negative regulation of NF-kappaB transcription factor activityManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process negative regulation of NIK/NF-kappaB signalingManual Assertion Based On ExperimentIMP:ARUK-UCL
Biological Process negative regulation of protein localization to chromatinISS:ARUK-UCL
Biological Process negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIMP:ARUK-UCL
Biological Process oncogene-induced cell senescenceISS:ARUK-UCL
Biological Process pericyte cell differentiationISS:ARUK-UCL
Biological Process positive regulation of antifungal innate immune responseISS:ARUK-UCL
Biological Process positive regulation of gene expressionIEA:Ensembl
Biological Process positive regulation of microglial cell mediated cytotoxicityISS:ARUK-UCL
Biological Process positive regulation of miRNA transcriptionManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process positive regulation of myeloid dendritic cell chemotaxisIEA:Ensembl
Biological Process positive regulation of p38MAPK cascadeISS:ARUK-UCL
Biological Process positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process pro-T cell differentiationISS:ARUK-UCL
Biological Process regulation of DNA-binding transcription factor activityISS:ARUK-UCL
Biological Process regulation of DNA-templated transcriptionManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process regulation of erythrocyte differentiationManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process regulation of histone H3-K27 acetylationISS:ARUK-UCL
Biological Process regulation of myeloid progenitor cell differentiationISS:ARUK-UCL
Biological Process regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Biological Process somatic stem cell population maintenanceIEA:Ensembl
Biological Process TRAIL-activated apoptotic signaling pathwayManual Assertion Based On ExperimentIMP:ARUK-UCL
Biological Process transforming growth factor beta receptor signaling pathwayIEA:Ensembl

Nucleus

Agammaglobulinemia 10, autosomal dominant (AGM10):
A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.