Seroatlas · Human Serome Atlas

SPI1

Transcription factor PU.1

Also known as: OF, PU.1, SFPI1, SPI-1, SPI-A, SPI1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P17947
Gene
SPI1
Ensembl
ENSG00000066336
Chromosome
11
Canonical length
270 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins, Transcription factors
Subcellular location
Nucleoplasm

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

270 residues, UniProt reviewed canonical sequence.

>P17947|SPI1
     1  MLQACKMEGF PLVPPPSEDL VPYDTDLYQR QTHEYYPYLS SDGESHSDHY WDFHPHHVHS
    61  EFESFAENNF TELQSVQPPQ LQQLYRHMEL EQMHVLDTPM VPPHPSLGHQ VSYLPRMCLQ
   121  YPSLSPAQPS SDEEEGERQS PPLEVSDGEA DGLEPGPGLL PGETGSKKKI RLYQFLLDLL
   181  RSGDMKDSIW WVDKDKGTFQ FSSKHKEALA HRWGIQKGNR KKMTYQKMAR ALRNYGKTGE
   241  VKKVKKKLTY QFSGEVLGRG GLAERRHPPH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SPI1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.6
Highest tissue expression
316 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 316 nTPM
  • spleen: 168 nTPM
  • appendix: 101 nTPM
  • lung: 99 nTPM
  • lymph node: 61 nTPM
  • adipose tissue: 35 nTPM

Single-cell type

  • neutrophils: 1,364 nCPM
  • hofbauer cells: 502 nCPM
  • kupffer cells: 450 nCPM
  • monocytes: 449 nCPM
  • cdc: 417 nCPM
  • neutrophil progenitors: 394 nCPM

Immune cell

  • eosinophil: 180 nTPM
  • neutrophil: 84 nTPM
  • non-classical monocyte: 35 nTPM
  • intermediate monocyte: 28 nTPM
  • classical monocyte: 19 nTPM
  • myeloid DC: 16 nTPM

Brain region

  • medulla oblongata: 69 nTPM
  • white matter: 67 nTPM
  • thalamus: 59 nTPM
  • pons: 56 nTPM
  • spinal cord: 45 nTPM
  • cerebral cortex: 41 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SPI1.

Disease | AllUniProt

Conditions SPI1 is implicated in, by any mechanism.

  • Agammaglobulinemia 10, autosomal dominant (AGM10) MIM:619707

Disease | GeneticClinVar

25 pathogenic / likely-pathogenic of 177 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Agammaglobulinemia
  • Agammaglobulinemia 10, autosomal dominant
  • PU.1-mutated agammaglobulinemia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.24
gnomAD pLI
0.98
gnomAD missense Z
2.35
DepMap mean gene effect
-0.06
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SPI1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SPI1 as an antibody target. Whether an autoantibody or antibody against SPI1 could matter depends on whether native SPI1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SPI1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SPI1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SPI1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...