SPI1 Gene (Protein Coding)

Spi-1 Proto-Oncogene

GC11M066256
GIFtS:
44
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 alternati... See more...

Aliases for SPI1 Gene

Aliases for SPI1 Gene

  • Spi-1 Proto-Oncogene 2 3 5
  • Hematopoietic Transcription Factor PU.1 2 3
  • 31 KDa Transforming Protein 2 3
  • Transcription Factor PU.1 3 4
  • SFPI1 2 3
  • SPI-1 2 3
  • SPI-A 2 3
  • PU.1 2 3
  • OF 2 3
  • Spleen Focus Forming Virus (SFFV) Proviral Integration Oncogene Spi1 3
  • Spleen Focus Forming Virus (SFFV) Proviral Integration Oncogene 2
  • 31 KDa-Transforming Protein 4
  • SPI1 5

External Ids for SPI1 Gene

Previous GeneCards Identifiers for SPI1 Gene

  • GC11M049316
  • GC11M048254
  • GC11M047408
  • GC11M047340
  • GC11M047332
  • GC11M047075
  • GC11M047430
  • GC11M048075
  • GC11M048800
  • GC11M049902
  • GC11M047546
  • GC11M047947
  • GC11M055813
  • GC11M056039
  • GC11M056178
  • GC11M059694
  • GC11M050799
  • GC11M051594
  • GC11M052256
  • GC11M052916
  • GC11M053584
  • GC11M054250
  • GC11M054916
  • GC11M055616
  • GC11M061125
  • GC11M063609

Summaries for SPI1 Gene

Entrez Gene Summary for SPI1 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]

GeneCards Summary for SPI1 Gene

SPI1 (Spi-1 Proto-Oncogene) is a Protein Coding gene. Diseases associated with SPI1 include Inflammatory Diarrhea and Pulmonary Alveolar Proteinosis. Among its related pathways are IL4-mediated signaling events and Innate Lymphoid Cell Differentiation Pathways. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA binding. An important paralog of this gene is ENSG00000142539.

UniProtKB/Swiss-Prot Summary for SPI1 Gene

  • Binds to the PU-box, a purine-rich DNA sequence (5'-GAGGAA-3') that can act as a lymphoid-specific enhancer. This protein is a transcriptional activator that may be specifically involved in the differentiation or activation of macrophages or B-cells. Also binds RNA and may modulate pre-mRNA splicing (By similarity).

Gene Wiki entry for SPI1 Gene

Additional gene information for SPI1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPI1 Gene

Genomics for SPI1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SPI1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPI1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPI1

Top Transcription factor binding sites by QIAGEN in the SPI1 gene promoter:
  • AML1a

Genomic Locations for SPI1 Gene

Latest Assembly
chr11:47,354,859-47,395,640
(GRCh38/hg38)
Size:
40,782 bases
Orientation:
Minus strand

Previous Assembly
chr11:47,376,411-47,400,098
(GRCh37/hg19 by Entrez Gene)
Size:
23,688 bases
Orientation:
Minus strand

chr11:47,376,411-47,400,127
(GRCh37/hg19 by Ensembl)
Size:
23,717 bases
Orientation:
Minus strand

Genomic View for SPI1 Gene

Genes around SPI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPI1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SPI1 Gene

Proteins for SPI1 Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for SPI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17947-SPI1_HUMAN
    Recommended name:
    Transcription factor PU.1
    Protein Accession:
    P17947

    Protein attributes for SPI1 Gene

    Size:
    270 amino acids
    Molecular mass:
    31083 Da
    Quaternary structure:
    • Binds DNA as a monomer. Interacts with CEBPD and NONO (By similarity). Interacts with RUNX1 and SPIB. Interacts with GFI1; the interaction represses SPI1 transcriptional activity. Interacts with CEBPE (PubMed:26019275).
    SequenceCaution:
    • Sequence=CAA36281.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for SPI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPI1 Gene

Protein Expression for SPI1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SPI1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPI1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for SPI1 Gene

Domains & Families for SPI1 Gene

Gene Families for SPI1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transcription factors

Protein Domains for SPI1 Gene

InterPro:

Suggested Antigen Peptide Sequences for SPI1 Gene

GenScript: Design optimal peptide antigens:
  • PU.1 (Q13318_HUMAN)
  • 31 kDa-transforming protein (SPI1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P17947

UniProtKB/Swiss-Prot:

SPI1_HUMAN :
  • Belongs to the ETS family.
Family:
  • Belongs to the ETS family.
genes like me logo Genes that share domains with SPI1: view

Function for SPI1 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for SPI1 Gene

UniProtKB/Swiss-Prot Function:
Binds to the PU-box, a purine-rich DNA sequence (5'-GAGGAA-3') that can act as a lymphoid-specific enhancer. This protein is a transcriptional activator that may be specifically involved in the differentiation or activation of macrophages or B-cells. Also binds RNA and may modulate pre-mRNA splicing (By similarity).
UniProtKB/Swiss-Prot Induction:
Highly expressed in both FV-P and FV-A-induced erythro-leukemia cell lines that have undergone rearrangements of the SPI1 gene due to the insertion of SFFV. Negatively regulated by microRNA-155 (miR-155).
GENATLAS Biochemistry:
spleen focus forming virus (SFFV) proviral integration oncogene spi1,Pu-1 homolog,expressed in various hemapoietic cell lines,required for the development of both myeloid and lymphoid lineages

Phenotypes From GWAS Catalog for SPI1 Gene

Gene Ontology (GO) - Molecular Function for SPI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA,ISS --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IEA,ISS --
GO:0001085 RNA polymerase II transcription factor binding IEA,ISS --
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IEA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
genes like me logo Genes that share ontologies with SPI1: view
genes like me logo Genes that share phenotypes with SPI1: view

Animal Models for SPI1 Gene

MGI Knock Outs for SPI1:
  • Spi1 Spi1<tm1Ram>
  • Spi1 Spi1<tm1Rpd>
  • Spi1 Spi1<tm2b(EUCOMM)Wtsi>
  • Spi1 Spi1<tm1.3Dgt>
  • Spi1 Spi1<tm1Sing>
  • Spi1 Spi1<tm1Kast>
  • Spi1 Spi1<tm2.1Dgt>
  • Spi1 Spi1<tm1.3Nutt>
  • Spi1 Spi1<tm1.1Nutt>

Animal Models for research

Targeted motifs for SPI1 Gene
HOMER Transcription Factor Regulatory Elements motif SPI1
  • Consensus sequence: AGAGGAAGTG Submotif: canonical Cell Type: ThioMac GEO ID: GSE21512

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPI1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for SPI1 Gene

Localization for SPI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPI1 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPI1 gene
Compartment Confidence
nucleus 5
plasma membrane 3
extracellular 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SPI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IEA,ISA --
GO:0005634 nucleus IBA,IDA 20972335
GO:0005654 nucleoplasm IDA --
GO:0005667 transcription factor complex IDA 24429361
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SPI1: view

Pathways & Interactions for SPI1 Gene

genes like me logo Genes that share pathways with SPI1: view

SIGNOR curated interactions for SPI1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SPI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0001944 vasculature development IEA --
GO:0002320 lymphoid progenitor cell differentiation IEA --
GO:0002573 myeloid leukocyte differentiation IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with SPI1: view

Drugs & Compounds for SPI1 Gene

Products:

  1. Drug products for research

(4) Drugs for SPI1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for SPI1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SPI1: view

Transcripts for SPI1 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for SPI1 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPI1

Alternative Splicing Database (ASD) splice patterns (SP) for SPI1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b
SP1:
SP2:
SP3: - -

Relevant External Links for SPI1 Gene

GeneLoc Exon Structure for
SPI1

Expression for SPI1 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPI1 Gene

mRNA expression in normal human tissues for SPI1 Gene
mRNA expression by BioGPS for SPI1 GenemRNA expression by GTEx for SPI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPI1 Gene

This gene is overexpressed in Whole Blood (x39.7).

Protein differential expression in normal tissues from HIPED for SPI1 Gene

This gene is overexpressed in Monocytes (25.8), Blymphocyte (24.0), and Pancreas (12.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPI1 Gene



Protein tissue co-expression partners for SPI1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPI1

SOURCE GeneReport for Unigene cluster for SPI1 Gene:

Hs.502511

Evidence on tissue expression from TISSUES for SPI1 Gene

  • Liver(4.5)
  • Bone marrow(3.5)
  • Spleen(3.4)
  • Blood(3.3)
  • Intestine(3.2)
  • Lymph node(3.2)
  • Lung(2.9)
  • Nervous system(2.7)
  • Skin(2.6)
  • Heart(2.4)
  • Kidney(2.2)
  • Muscle(2.1)
  • Stomach(2.1)
  • Gall bladder(2.1)
  • Bone(2.1)
genes like me logo Genes that share expression patterns with SPI1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPI1 Gene

Orthologs for SPI1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPI1 Gene

Organism Taxonomy Gene Similarity Type Details
Cow
(Bos Taurus)
 Mammalia SPI1 29 30
  • 92.96 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SPI1 29 30
  • 91.73 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Spi1 29
  • 88.27 (n)
Mouse
(Mus musculus)
 Mammalia Spi1 29 16 30
  • 88.02 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia SPI1 30
  • 82 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia SPI1 30
  • 77 (a)
 OneToOne
Chimpanzee
(Pan troglodytes)
 Mammalia SPI1 30
  • 71 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SPI1 29 30
  • 77.73 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SPI1 30
  • 74 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia spi1 29
  • 68.93 (n)
Zebrafish
(Danio rerio)
 Actinopterygii spi1b 29 30
  • 65.49 (n)
 OneToOne
spi1 29
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.10886 29
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 20 (a)
 OneToMany
Species where no ortholog for SPI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SPI1 Gene

ENSEMBL:
Gene Tree for SPI1 (if available)
TreeFam:
Gene Tree for SPI1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SPI1: view image
Alliance of Genome Resources:
Additional Orthologs for SPI1

Paralogs for SPI1 Gene

Paralogs for SPI1 Gene

(2) SIMAP similar genes for SPI1 Gene using alignment to 3 proteins:

  • SPI1_HUMAN
  • F5GZ94_HUMAN
  • F5H3K6_HUMAN
genes like me logo Genes that share paralogs with SPI1: view

Variants for SPI1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPI1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
801321 Pathogenic: PU.1-mutated agammaglobulinemia 47,355,318(-) A/C
NM_003120.3(SPI1):c.722T>G (p.Val241Gly) 		MISSENSE
801322 Pathogenic: PU.1-mutated agammaglobulinemia 47,355,408(-) T/G
NM_003120.3(SPI1):c.632A>C (p.His211Pro) 		MISSENSE
801323 Pathogenic: PU.1-mutated agammaglobulinemia 47,358,974(-) G/C
NM_003120.3(SPI1):c.363C>G (p.Tyr121Ter) 		NONSENSE
989449 Pathogenic: PU.1-mutated agammaglobulinemia 47,355,345(-) AGC/A
NM_003120.3(SPI1):c.693_694del (p.Leu232fs) 		FRAMESHIFT
989450 Pathogenic: PU.1-mutated agammaglobulinemia 47,359,855(-) G/A
NM_003120.3(SPI1):c.328C>T (p.Gln110Ter) 		NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SPI1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SPI1 Gene

Variant ID Type Subtype PubMed ID
dgv622e59 CNV duplication 20981092
esv275512 CNV loss 21479260
esv3439899 CNV duplication 20981092
esv992404 CNV insertion 20482838
nsv1075832 CNV duplication 25765185
nsv1127180 CNV deletion 24896259
nsv1132343 CNV duplication 24896259
nsv1134113 CNV deletion 24896259
nsv1141192 CNV duplication 24896259
nsv509404 CNV insertion 20534489
nsv513315 CNV insertion 21212237
nsv554210 CNV loss 21841781
nsv825871 CNV gain 20364138
nsv832141 CNV loss 17160897

Variation tolerance for SPI1 Gene

Residual Variation Intolerance Score: 40.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.34; 26.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPI1 Gene

Human Gene Mutation Database (HGMD)
SPI1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPI1
Leiden Open Variation Database (LOVD)
SPI1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPI1 Gene

Disorders for SPI1 Gene

MalaCards: The human disease database

(27) MalaCards diseases for SPI1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
inflammatory diarrhea
pulmonary alveolar proteinosis
primary mediastinal b-cell lymphoma
  • large cell lymphoma of the mediastinum
neutrophil-specific granule deficiency
  • lactoferrin-deficient neutrophils
leukemia
  • leukemias
- elite association - COSMIC cancer census association via MalaCards
Search SPI1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SPI1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SPI1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPI1 Gene

Publications for SPI1 Gene

  1. The human homologue of the putative proto-oncogene Spi-1: characterization and expression in tumors. (PMID: 1693183) Ray D … Moreau-Gachelin F (Oncogene 1990) 2 3 4 22
  2. A Novel In-Frame Deletion in the Leucine Zipper Domain of C/EBPε Leads to Neutrophil-Specific Granule Deficiency. (PMID: 26019275) Wada T … Yachie A (Journal of immunology (Baltimore, Md. : 1950) 2015) 3 4
  3. Vav1 and PU.1 are recruited to the CD11b promoter in APL-derived promyelocytes: role of Vav1 in modulating PU.1-containing complexes during ATRA-induced differentiation. (PMID: 19747912) Brugnoli F … Bertagnolo V (Experimental cell research 2010) 3 22
  4. Heterozygous deletion of the PU.1 locus in human AML. (PMID: 19890096) Bonadies N … Mueller BU (Blood 2010) 3 40
  5. Physical and functional interactions between hematopoietic cell-specific ETS transcription factors and homeodomain proteins. (PMID: 18692240) Yamada T … Tsuchida S (Leukemia research 2009) 3 22

ExternalLinks

View latest publications for SPI1 gene in Mastermind

Products for SPI1 Gene

  • Addgene plasmids for SPI1

Sources for SPI1 Gene