SPI1

Chr 11p11.2

Spi-1 proto-oncogene

Aliases:: PU.1, SPI-A, OF, SFPI1, SPI-1
MANE:: ENST00000378538.8

OMIM: 165170 ↗NCBI: 6688 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

SPI1 · P17947

v62025-08-01

Predicted Aligned Error matrix for SPI1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.5/ 100

Low

270 residues

Confidence breakdown

Very high(≥ 90)33%
Confident(70–90)2%
Low(50–70)28%
Very low(< 50)38%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Primary immunodeficiency or monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

agammaglobulinemia 10, autosomal dominant
0.72
agammaglobulinemia
0.54
neurodegenerative disease
0.53
Alzheimer disease
0.42
autosomal agammaglobulinemia
0.38
multiple sclerosis
0.37
Parkinson disease
0.37
lysosomal storage disease
0.37
hypertensive disorder
0.25
acute myeloid leukemia
0.24

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transcription factor PU.1

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)