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

    Gene ID: 6688, updated on 2-Jul-2015
    Official Symbol
    SPI1provided by HGNC
    Official Full Name
    Spi-1 proto-oncogeneprovided by HGNC
    Primary source
    HGNC:HGNC:11241
    See related
    Ensembl:ENSG00000066336; HPRD:01305; MIM:165170; Vega:OTTHUMG00000150150
    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; 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]
    Orthologs
    See SPI1 in Epigenomics, MapViewer
    Location:
    11p11.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (47354858..47395640, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47376409..47400127, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928943 Neighboring gene MAP-kinase activating death domain Neighboring gene myosin binding protein C, cardiac Neighboring gene microRNA 4487 Neighboring gene solute carrier family 39 (zinc transporter), member 13

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NFAT protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II core promoter sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II distal enhancer sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II transcription factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    core promoter binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sequence-specific DNA binding RNA polymerase II transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    sequence-specific DNA binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    anatomical structure regression IEA
    Inferred from Electronic Annotation
    more info
     
    apoptotic process involved in patterning of blood vessels IEA
    Inferred from Electronic Annotation
    more info
     
    cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cellular response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    granulocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    histone H3 acetylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hypermethylation of CpG island IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lymphocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    lymphoid progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    macrophage differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    myeloid dendritic cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of MHC class II biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of gene expression, epigenetic IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of histone H4 acetylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of erythrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    somatic stem cell maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nuclear chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    transcription factor PU.1
    Names
    31 kDa transforming protein
    31 kDa-transforming protein
    hematopoietic transcription factor PU.1
    spleen focus forming virus (SFFV) proviral integration oncogene spi1

    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_001080547.1NP_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, CD368431
      Consensus CDS
      CCDS44591.1
      UniProtKB/Swiss-Prot
      P17947
      Related
      ENSP00000227163, OTTHUMP00000238031, ENST00000227163, OTTHUMT00000398341
      Conserved Domains (1) summary
      cl02599
      Location:170256
      Ets; Ets-domain
    2. NM_003120.2NP_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, CD368431, X52056
      Consensus CDS
      CCDS7933.2
      UniProtKB/Swiss-Prot
      P17947
      Related
      ENSP00000367799, OTTHUMP00000196462, ENST00000378538, OTTHUMT00000316571
      Conserved Domains (1) summary
      cl02599
      Location:169255
      Ets; Ets-domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

      Range
      47354858..47395640
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520307.1XP_011518609.1  

      See identical proteins and their annotated locations for XP_011518609.1

      Conserved Domains (1) summary
      cl02599
      Location:82168
      Ets; Ets-domain
    2. XM_011520306.1XP_011518608.1  

      See identical proteins and their annotated locations for XP_011518608.1

      Conserved Domains (1) summary
      cl02599
      Location:82168
      Ets; Ets-domain
    3. XM_011520305.1XP_011518607.1  

      See identical proteins and their annotated locations for XP_011518607.1

      Conserved Domains (1) summary
      cl02599
      Location:82168
      Ets; Ets-domain
    4. XM_011520308.1XP_011518610.1  

      See identical proteins and their annotated locations for XP_011518610.1

      Conserved Domains (1) summary
      cl02599
      Location:82168
      Ets; Ets-domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      47375652..47399367
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)