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

External Ids for SPI1 Gene

Previous GeneCards Identifiers for SPI1 Gene

  • GC11M049316
  • GC11M048254
  • GC11M047408
  • GC11M047340
  • GC11M047332
  • GC11M047075
  • GC11M047430
  • GC11M048075
  • GC11M048800
  • GC11M049902
  • GC11M047546
  • GC11M047947
  • GC11M050799
  • GC11M051594
  • GC11M052256
  • GC11M052916

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 Neutrophil-Specific Granule Deficiency and Specific Granule Deficiency. Among its related pathways are Type II interferon signaling (IFNG) and IL-4 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA binding. An important paralog of this gene is SPIB.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for SPI1 Gene

Genomics for SPI1 Gene

Regulatory Elements for SPI1 Gene

Enhancers for SPI1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H047387 1.9 FANTOM5 Ensembl ENCODE dbSUPER 45.2 +3.4 3431 8 HDGF ZNF766 ZNF207 RUNX3 REST ZNF592 SMARCA4 NBN NR2C1 KDM1A SPI1 C1QTNF4 MYBPC3 FNBP4 CELF1 ENSG00000255197 PSMC3 LRP4 MADD GC11M053804
GH11H047399 1.6 FANTOM5 ENCODE dbSUPER 21 -5.1 -5121 2 HDGF PKNOX1 ZNF2 TCF12 GLIS2 ELK1 RUNX3 REST SMARCA4 GLIS1 SPI1 PSMC3 FNBP4 ENSG00000255197 MADD C11orf49 CELF1 MIR4487
GH11H047373 1.8 FANTOM5 ENCODE dbSUPER 13.1 +19.0 18998 6 HDGF PKNOX1 SIN3A ARID4B YBX1 ZNF766 CBX5 ZNF207 ZNF143 ZNF548 FNBP4 NUP160 ENSG00000200090 ENSG00000270060 C1QTNF4 SLC39A13 PSMC3 DDB2 SPI1 RPS10P19
GH11H047252 1.5 FANTOM5 ENCODE dbSUPER 7.1 +141.0 141016 4 ELF3 MLX ARID4B DMAP1 RAD21 THRB RARA YY1 ZNF121 ZNF366 ACP2 ENSG00000256897 DDB2 PACSIN3 ARFGAP2 MADD MYBPC3 SPI1 CELF1
GH11H047380 0.6 FANTOM5 dbSUPER 17.7 +14.8 14819 0 SPI1 CELF1 MADD FNBP4 GC11M053804
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPI1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for SPI1 Gene

Chromosome:
11
Start:
47,354,858 bp from pter
End:
47,395,640 bp from pter
Size:
40,783 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 StructureGene Density

RefSeq DNA sequence for SPI1 Gene

Proteins for SPI1 Gene

  • 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.
    SequenceCaution:
    • Sequence=CAA36281.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SPI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPI1 Gene

Post-translational modifications for SPI1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPI1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SPI1 (PU.1)

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:
ProtoNet:

Suggested Antigen Peptide Sequences for SPI1 Gene

GenScript: Design optimal peptide antigens:

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

Molecular function for SPI1 Gene

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
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).

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 core promoter proximal region sequence-specific DNA binding IEA --
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding ISS,IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA --
GO:0000982 transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding 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:

Animal Model Products

CRISPR Products

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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPI1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

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 2
extracellular 2
cytosol 2
cytoskeleton 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SPI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IEA,IDA 15304486
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS,IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of 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

Gene Ontology (GO) - Biological Process for SPI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001944 vasculature development IEA --
GO:0002320 lymphoid progenitor cell differentiation IEA --
GO:0002573 myeloid leukocyte differentiation IEA --
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with SPI1: view

No data available for SIGNOR curated interactions for SPI1 Gene

Drugs & Compounds for SPI1 Gene

(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

Unigene Clusters for SPI1 Gene

Spleen focus forming virus (SFFV) proviral integration oncogene spi1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPI1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
SPI1

Expression for SPI1 Gene

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



Protein tissue co-expression partners for SPI1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPI1 Gene:

SPI1

SOURCE GeneReport for Unigene cluster for SPI1 Gene:

Hs.502511

Evidence on tissue expression from TISSUES for SPI1 Gene

  • Liver(4.4)
  • Blood(3.3)
  • Bone marrow(3.3)
  • Spleen(3.1)
  • Intestine(2.9)
  • Lymph node(2.8)
  • Lung(2.5)
genes like me logo Genes that share expression patterns with SPI1: view

Primer Products

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 33 34
  • 92.96 (n)
dog
(Canis familiaris)
Mammalia SPI1 33 34
  • 91.73 (n)
rat
(Rattus norvegicus)
Mammalia Spi1 33
  • 88.27 (n)
mouse
(Mus musculus)
Mammalia Spi1 33 16 34
  • 88.02 (n)
oppossum
(Monodelphis domestica)
Mammalia SPI1 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPI1 34
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SPI1 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPI1 34 33
  • 77.73 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPI1 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spi1 33
  • 68.93 (n)
zebrafish
(Danio rerio)
Actinopterygii spi1b 33 34
  • 65.49 (n)
spi1 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10886 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 20 (a)
OneToMany
Species where no ortholog for SPI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for SPI1 Gene

Paralogs for SPI1 Gene

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

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

Variants for SPI1 Gene

Sequence variations from dbSNP and Humsavar for SPI1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000024728 -- 47,397,627(+) AGTGG(A/G)TCACC upstream-variant-2KB
rs1000055357 -- 47,372,801(+) CCTCG(C/G)TGAAT intron-variant
rs1000118259 -- 47,391,929(+) GGGCA(A/G)GGCAG intron-variant
rs1000303349 -- 47,356,961(+) ACACA(C/T)GCTCA intron-variant
rs1000342945 -- 47,397,318(+) AACCT(G/T)AGAGG upstream-variant-2KB

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)

Relevant External Links for SPI1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPI1

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

Disorders for SPI1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SPI1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
neutrophil-specific granule deficiency
  • specific granule deficiency
specific granule deficiency
  • specific granule deficiency 1
poikiloderma with neutropenia
  • clericuzio type poikiloderma with neutropenia
parotid gland cancer
  • cancer of parotid gland
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
- elite association - COSMIC cancer census association via MalaCards
Search SPI1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SPI1

Genetic Association Database (GAD)
SPI1
Human Genome Epidemiology (HuGE) Navigator
SPI1
Tumor Gene Database (TGDB):
SPI1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPI1
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 60
  2. Heterozygous deletion of the PU.1 locus in human AML. (PMID: 19890096) Bonadies N … Mueller BU (Blood 2010) 3 45 60
  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 60
  4. Roles of PU.1 in monocyte- and mast cell-specific gene regulation: PU.1 transactivates CIITA pIV in cooperation with IFN-gamma. (PMID: 19502584) Ito T … Okumura K (International immunology 2009) 3 22 60
  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 60

Products for SPI1 Gene

Sources for SPI1 Gene

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