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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SPI1
Spi-1 proto-oncogene
Chromosome 11 Β· 11p11.2
NCBI Gene: 6688Ensembl: ENSG00000066336.13HGNC: HGNC:11241UniProt: A0AAA9YHK5
280PubMed Papers
21Diseases
0Drugs
25Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneOncogeneTranscription Factor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
TRAIL-activated apoptotic signaling pathwaytranscription cis-regulatory region bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingcis-regulatory region sequence-specific DNA bindingagammaglobulinemia 10, autosomal dominantagammaglobulinemianeurodegenerative diseaseAlzheimer disease
✦AI Summary

SPI1 is a pioneer transcription factor that controls hematopoietic cell fate by decompacting stem cell heterochromatin and enabling access to otherwise inaccessible genomic regions 12. It binds the PU-box DNA sequence (5'-GAGGAA-3') via its ETS domain and transcriptionally activates genes crucial for myeloid and lymphoid differentiation, often cooperatively with other factors like GATA1 23. SPI1 is essential for the pro- to pre-B cell transition and can recruit transcription factors such as interferon regulatory factors to regulate gene expression 2. In hematopoietic development, SPI1 is one of seven transcription factors sufficient to convert haemogenic endothelium into functional hematopoietic stem and progenitor cells capable of multilineage engraftment 4. Beyond hematopoiesis, SPI1 functions as a transcriptional regulator in multiple disease contexts: it regulates interleukin-8 and interleukin-10 expression in tumor-associated macrophages within lung adenocarcinoma 5, serves as a transcriptional factor for complement pathway genes in atherosclerotic plaques 6, and contributes to immune signatures in triple-negative breast cancer subtypes 7. Notably, SPI1 negatively regulates METTL14 in the SPI1-METTL14-MYB/MYC signaling axis governing myelopoiesis and leukemogenesis 8. Mutations in SPI1 cause autosomal dominant agammaglobulinemia, underscoring its critical role in B lymphocyte development.

Sources cited
1
SPI1 functions as a pioneer transcription factor controlling hematopoietic cell fate
PMID: 23658224
2
SPI1 decompacts heterochromatin, recruits IRFs, activates lineage genes, binds PU-box sequences, and is important for pro- to pre-B cell transition
PMID: 33951726
3
SPI1 and GATA1 cooperatively regulate downstream target genes in hematopoietic lineage specification
PMID: 38760566
4
SPI1 is one of seven transcription factors sufficient to generate functional hematopoietic stem and progenitor cells from haemogenic endothelium
PMID: 28514439
5
SPI1 regulates IL8 and IL10 expression in macrophages within lung adenocarcinoma microenvironment
PMID: 39535362
6
SPI1 acts as a transcriptional factor regulating complement pathway genes in atherosclerotic plaques
PMID: 38179058
7
SPI1 is part of a transcriptional regulatory network associated with immune signatures in triple-negative breast cancer
PMID: 30594216
8
SPI1 negatively regulates METTL14 in the SPI1-METTL14-MYB/MYC signaling axis controlling myelopoiesis and leukemogenesis
PMID: 29290617
Disease Associationsβ“˜21
agammaglobulinemia 10, autosomal dominantOpen Targets
0.72Strong
agammaglobulinemiaOpen Targets
0.54Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
Alzheimer diseaseOpen Targets
0.41Moderate
autosomal agammaglobulinemiaOpen Targets
0.37Weak
Parkinson diseaseOpen Targets
0.37Weak
multiple sclerosisOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.37Weak
acute myeloid leukemiaOpen Targets
0.24Weak
hypertensionOpen Targets
0.22Weak
essential hypertensionOpen Targets
0.17Weak
Increased blood pressureOpen Targets
0.16Weak
thrombophiliaOpen Targets
0.13Weak
deep vein thrombosisOpen Targets
0.13Weak
open-angle glaucomaOpen Targets
0.12Weak
acute lymphoblastic leukemiaOpen Targets
0.12Weak
Ehlers-Danlos syndromeOpen Targets
0.12Weak
Ehlers-Danlos syndrome, spondylocheirodysplastic typeOpen Targets
0.12Weak
gliomaOpen Targets
0.11Weak
venous thromboembolismOpen Targets
0.11Weak
Agammaglobulinemia 10, autosomal dominantUniProt
Pathogenic Variants25
NM_003120.3(SPI1):c.143-2A>CPathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_003120.3(SPI1):c.573G>A (p.Trp191Ter)Likely pathogenic
Agammaglobulinemia 10, autosomal dominant
β˜…β˜†β˜†β˜†2023β†’ Residue 191
NM_003120.3(SPI1):c.328C>T (p.Gln110Ter)Pathogenic
PU.1-mutated agammaglobulinemia|Agammaglobulinemia 10, autosomal dominant|Agammaglobulinemia
β˜…β˜†β˜†β˜†2022β†’ Residue 110
NM_003120.3(SPI1):c.722T>G (p.Val241Gly)Likely pathogenic
PU.1-mutated agammaglobulinemia|Agammaglobulinemia 10, autosomal dominant|Agammaglobulinemia
β˜…β˜†β˜†β˜†2022β†’ Residue 241
NM_003120.3(SPI1):c.632A>C (p.His211Pro)Likely pathogenic
PU.1-mutated agammaglobulinemia|Agammaglobulinemia 10, autosomal dominant|Agammaglobulinemia
β˜…β˜†β˜†β˜†2022β†’ Residue 211
NM_003120.3(SPI1):c.363C>A (p.Tyr121Ter)Pathogenic
Agammaglobulinemia 10, autosomal dominant|Agammaglobulinemia
β˜…β˜†β˜†β˜†2022β†’ Residue 121
NM_003120.3(SPI1):c.536T>C (p.Leu179Pro)Pathogenic
Agammaglobulinemia
β˜†β˜†β˜†β˜†2024β†’ Residue 179
Single allelePathogenic
Agammaglobulinemia
β˜†β˜†β˜†β˜†2024
NM_003120.3(SPI1):c.693_694del (p.Leu232fs)Pathogenic
PU.1-mutated agammaglobulinemia|Agammaglobulinemia 10, autosomal dominant|Agammaglobulinemia
β˜†β˜†β˜†β˜†2024β†’ Residue 232
NM_003120.3(SPI1):c.100G>T (p.Glu34Ter)Pathogenic
Agammaglobulinemia
β˜†β˜†β˜†β˜†2024β†’ Residue 34
NM_003120.3(SPI1):c.471del (p.Leu159fs)Pathogenic
Agammaglobulinemia
β˜†β˜†β˜†β˜†2024β†’ Residue 159
NM_003120.3(SPI1):c.525C>A (p.Phe175Leu)Pathogenic
Agammaglobulinemia
β˜†β˜†β˜†β˜†2024β†’ Residue 175
NM_003120.3(SPI1):c.538C>T (p.Leu180Phe)Pathogenic
Agammaglobulinemia
β˜†β˜†β˜†β˜†2024β†’ Residue 180
NM_003120.3(SPI1):c.571T>C (p.Trp191Arg)Pathogenic
Agammaglobulinemia
β˜†β˜†β˜†β˜†2024β†’ Residue 191
NM_003120.3(SPI1):c.639G>A (p.Trp213Ter)Pathogenic
Agammaglobulinemia
β˜†β˜†β˜†β˜†2024β†’ Residue 213
NM_003120.3(SPI1):c.676C>T (p.Gln226Ter)Pathogenic
Agammaglobulinemia
β˜†β˜†β˜†β˜†2024β†’ Residue 226
NM_003120.3(SPI1):c.701del (p.Asn234fs)Pathogenic
Agammaglobulinemia
β˜†β˜†β˜†β˜†2024β†’ Residue 234
NM_003120.3(SPI1):c.112del (p.Tyr38fs)Pathogenic
Agammaglobulinemia
β˜†β˜†β˜†β˜†2024β†’ Residue 38
NM_003120.3(SPI1):c.733AAG[2] (p.Lys247del)Pathogenic
Agammaglobulinemia
β˜†β˜†β˜†β˜†2024β†’ Residue 247
NM_003120.3(SPI1):c.346C>T (p.Arg116Trp)Pathogenic
Agammaglobulinemia
β˜†β˜†β˜†β˜†2024β†’ Residue 116
View on ClinVar β†—
Related Genes
IRF8Protein interaction100%IRF4Protein interaction100%JUNProtein interaction99%RUNX1Protein interaction99%CSF1RProtein interaction99%ITGAMProtein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
65%
Liver
6%
Heart
5%
Brain
4%
Ovary
2%
Gene Interaction Network
Click a node to explore
SPI1IRF8IRF4JUNRUNX1CSF1RITGAM
PROTEIN STRUCTURE
Preparing viewer…
PDB8EE9 Β· 1.22 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.30Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.12 [0.05–0.30]
RankingsWhere SPI1 stands among ~20K protein-coding genes
  • #1,292of 20,598
    Most Researched280 Β· top 10%
  • #1,964of 5,498
    Most Pathogenic Variants25
  • #1,139of 17,882
    Most Constrained (LOEUF)0.30 Β· top 10%
Genes detectedSPI1
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Integrin Ξ²8 Facilitates Macrophage Infiltration and Polarization by Regulating CCL5 to Promote LUAD Progression.
PMID: 39535362
Adv Sci (Weinh) Β· 2025
1.00
2
An integrative analysis of single-cell and bulk transcriptome and bidirectional mendelian randomization analysis identified C1Q as a novel stimulated risk gene for Atherosclerosis.
PMID: 38179058
Front Immunol Β· 2023
0.90
3
Classification of triple-negative breast cancers based on Immunogenomic profiling.
PMID: 30594216
J Exp Clin Cancer Res Β· 2018
0.80
4
Typhoidal Salmonella: Distinctive virulence factors and pathogenesis.
PMID: 30030897
Cell Microbiol Β· 2018
0.70
5
SMARCA4 is a haploinsufficient B cell lymphoma tumor suppressor that fine-tunes centrocyte cell fate decisions.
PMID: 38458188
Cancer Cell Β· 2024
0.68