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

    Gene ID: 6688, updated on 17-Jun-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See SPI1 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (47354860..47378547, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (47511687..47538667, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47376411..47400098, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene MADD antisense RNA 1 Neighboring gene MAP kinase activating death domain Neighboring gene myosin binding protein C3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:47371915-47372896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:47372897-47373877 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:47387327-47387502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:47395717-47396218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4696 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4697 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:47399745-47400696 Neighboring gene SLC39A13 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47415859-47416416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3327 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47421989-47422989 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:47429423-47430245 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:47430534-47431400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:47431401-47432265 Neighboring gene microRNA 4487 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:47435437-47435936 Neighboring gene solute carrier family 39 member 13

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
    part_of chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of 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

    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)

    NEW Try the new Transcript table

    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)

    1. NM_001080547.2NP_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:172253
      Ets; Ets-domain
    2. NM_003120.3NP_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:171252
      Ets; Ets-domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      47354860..47378547 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      47511687..47538667 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      A0AAA9YHK5
    2. XM_054369739.1XP_054225714.1  transcription factor PU.1 isoform X1

      UniProtKB/TrEMBL
      A0AAA9YHK5