SPI1 Spi-1 proto-oncogene [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPI1provided by HGNC
Official Full Name: Spi-1 proto-oncogeneprovided by HGNC
Primary source: HGNC:HGNC:11241
See related: Ensembl:ENSG00000066336 MIM:165170; AllianceGenome:HGNC:11241
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OF; PU.1; AGM10; SFPI1; SPI-1; SPI-A
Summary: 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]
Expression: Broad expression in bone marrow (RPKM 36.5), appendix (RPKM 27.0) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p11.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (47354860..47378547, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (47511687..47538667, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (47376411..47400098, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SPI1-mediated transcriptional activation of CEP55 promotes the malignant growth of triple-negative breast cancer and M2 macrophage polarization.
Title: SPI1-mediated transcriptional activation of CEP55 promotes the malignant growth of triple-negative breast cancer and M2 macrophage polarization.
HIV-1 Vpr combats the PU.1-driven antiviral response in primary human macrophages.
Title: HIV-1 Vpr combats the PU.1-driven antiviral response in primary human macrophages.
Role of LINC00240 on T-helper 9 differentiation in allergic rhinitis through influencing DNMT1-dependent methylation of PU.1.
Title: Role of LINC00240 on T-helper 9 differentiation in allergic rhinitis through influencing DNMT1-dependent methylation of PU.1.
Transcriptional regulation of the HIV-1 inhibitory factor human mannose receptor 1 by the myeloid-specific transcription factor PU.1.
Title: Transcriptional regulation of the HIV-1 inhibitory factor human mannose receptor 1 by the myeloid-specific transcription factor PU.1.
SPI1 Regulates the Progression of Ankylosing Spondylitis by Modulating TLR5 via NF-kappaB Signaling.
Title: SPI1 Regulates the Progression of Ankylosing Spondylitis by Modulating TLR5 via NF-κB Signaling.
LINC01004-SPI1 axis-activated SIGLEC9 in tumor-associated macrophages induces radioresistance and the formation of immunosuppressive tumor microenvironment in esophageal squamous cell carcinoma.
Title: LINC01004-SPI1 axis-activated SIGLEC9 in tumor-associated macrophages induces radioresistance and the formation of immunosuppressive tumor microenvironment in esophageal squamous cell carcinoma.
SPI1-mediated autophagy of peripheral blood monocyte cells as a mechanism for sepsis based on single-cell RNA sequencing.
Title: SPI1-mediated autophagy of peripheral blood monocyte cells as a mechanism for sepsis based on single-cell RNA sequencing.
SPI1 Mediates N-Myristoyltransferase 1 to Advance Gastric Cancer Progression via PI3K/AKT/mTOR Pathway.
Title: SPI1 Mediates N-Myristoyltransferase 1 to Advance Gastric Cancer Progression via PI3K/AKT/mTOR Pathway.
PU.1 negatively regulates tumorigenesis in non-small-cell lung cancer.
Title: PU.1 negatively regulates tumorigenesis in non-small-cell lung cancer.
SPI1 mediates transcriptional activation of TPX2 and RNF2 to regulate the radiosensitivity of lung squamous cell carcinoma.
Title: SPI1 mediates transcriptional activation of TPX2 and RNF2 to regulate the radiosensitivity of lung squamous cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (209)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Agammaglobulinemia 10, autosomal dominant MedGen: C5676900 OMIM: 619707 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	MicroRNA-155 modulates HIV-1 binding ability of dendritic cells (DCs) by reduction of DC-SIGN expression via the MicroRNA-mediated downregulation of PU.1, suggesting that PU.1 indirectly interacts with HIV-1 gp120/gp41	PubMed
Pol	gag-pol	Transcription factors Oct-1, Oct-2, PU.1, Sp1, and Sp3 are recruited to the HS7 regulatory site in the pol coding region, suggesting that Oct-1, Oct-2, PU.1, Sp1, and Sp3 indirectly interact with HIV-1 Pol	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:197862 (e-PCR)
- UniSTS:155976

NoName (e-PCR)
- UniSTS:494726

SHGC-78002 (e-PCR)
- UniSTS:101542

Sfpi1 (e-PCR), detects polymorphism
- UniSTS:547306

D11S3994 (e-PCR)
- UniSTS:72697

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables DNA-binding transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription repressor activity	IDA Inferred from Direct Assay more info	PubMed
enables NFAT protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables STAT family protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables chromatin binding	ISS Inferred from Sequence or Structural Similarity more info
enables cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables cis-regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables histone deacetylase binding	ISS Inferred from Sequence or Structural Similarity more info
enables molecular adaptor activity	EXP Inferred from Experiment more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein sequestering activity	ISS Inferred from Sequence or Structural Similarity more info
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_positive_effect TRAIL-activated apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to tumor cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endothelial to hematopoietic transition	ISS Inferred from Sequence or Structural Similarity more info
involved_in interleukin-6-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in myeloid leukocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of adipose tissue development	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neutrophil degranulation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of non-canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein localization to chromatin	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in oncogene-induced cell senescence	ISS Inferred from Sequence or Structural Similarity more info
involved_in pericyte cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of B cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of antifungal innate immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of miRNA transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of miRNA transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of microglial cell mediated cytotoxicity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of p38MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in pro-T cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of erythrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of myeloid progenitor cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in transcription initiation-coupled chromatin remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transcription initiation-coupled chromatin remodeling	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transcription factor PU.1

Names: 31 kDa transforming protein; hematopoietic transcription factor PU.1; spleen focus forming virus (SFFV) proviral integration oncogene spi1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001080547.2 → NP_001074016.1 transcription factor PU.1 isoform 1

See identical proteins and their annotated locations for NP_001074016.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

BI519776, BI909430, BM561863, BP271276

Consensus CDS

CCDS44591.1

UniProtKB/Swiss-Prot

P17947

Related

ENSP00000227163.4, ENST00000227163.8

Conserved Domains (1) summary

pfam00178
Location:172 → 253

Ets; Ets-domain
NM_003120.3 → NP_003111.2 transcription factor PU.1 isoform 2

See identical proteins and their annotated locations for NP_003111.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2).

Source sequence(s)

BM561863, BP271276, X52056

Consensus CDS

CCDS7933.2

UniProtKB/Swiss-Prot

P17947

Related

ENSP00000367799.4, ENST00000378538.8

Conserved Domains (1) summary

pfam00178
Location:171 → 252

Ets; Ets-domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

47354860..47378547 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

47511687..47538667 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054369738.1 → XP_054225713.1 transcription factor PU.1 isoform X1

UniProtKB/TrEMBL

A0AAA9YHK5
XM_054369739.1 → XP_054225714.1 transcription factor PU.1 isoform X1

UniProtKB/TrEMBL

A0AAA9YHK5