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

Gene ID: 6688, updated on 8-Jul-2018
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; 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]
Expression
Broad expression in bone marrow (RPKM 36.5), appendix (RPKM 27.0) and 18 other tissues See more
Orthologs
See SPI1 in Genome Data Viewer
Location:
11p11.2
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 member 13

  • 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 Jun 15 11:32:44 2016

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
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
NFAT protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
RNA 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 proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA
Inferred from Sequence Alignment
more info
 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding ISS
Inferred from Sequence or Structural Similarity
more info
 
transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
anatomical structure regression IEA
Inferred from Electronic Annotation
more info
 
apoptotic process involved in blood vessel morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of pri-miRNA transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
pri-miRNA transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of erythrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
somatic stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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

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
    ENSP00000227163.4, OTTHUMP00000238031, ENST00000227163.8, OTTHUMT00000398341
    Conserved Domains (1) summary
    smart00413
    Location:170258
    ETS; erythroblast transformation specific 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
    ENSP00000367799.3, OTTHUMP00000196462, ENST00000378538.7, OTTHUMT00000316571
    Conserved Domains (1) summary
    smart00413
    Location:169257
    ETS; erythroblast transformation specific domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011520307.1XP_011518609.1  transcription factor PU.1 isoform X1

    See identical proteins and their annotated locations for XP_011518609.1

    Conserved Domains (1) summary
    smart00413
    Location:82170
    ETS; erythroblast transformation specific domain
  2. XM_017018173.1XP_016873662.1  transcription factor PU.1 isoform X1

    Conserved Domains (1) summary
    smart00413
    Location:82170
    ETS; erythroblast transformation specific domain
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