Human Gene SPI1 (ENST00000378538.8_12) from GENCODE V47lift37
  Description: Spi-1 proto-oncogene, transcript variant 2 (from RefSeq NM_003120.3)
Gencode Transcript: ENST00000378538.8_12
Gencode Gene: ENSG00000066336.13_13
Transcript (Including UTRs)
   Position: hg19 chr11:47,376,411-47,400,098 Size: 23,688 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr11:47,376,778-47,399,904 Size: 23,127 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:47,376,411-47,400,098)mRNA (may differ from genome)Protein (270 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SPI1_HUMAN
DESCRIPTION: RecName: Full=Transcription factor PU.1; AltName: Full=31 kDa-transforming protein;
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).
SUBUNIT: 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.
INTERACTION: P31260:HOXA10; NbExp=2; IntAct=EBI-2293548, EBI-2293516; Q15156:PML-RAR; NbExp=20; IntAct=EBI-2293548, EBI-867256; P78527:PRKDC; NbExp=2; IntAct=EBI-2293548, EBI-352053;
SUBCELLULAR LOCATION: Nucleus.
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.
SIMILARITY: Belongs to the ETS family.
SIMILARITY: Contains 1 ETS DNA-binding domain.
SEQUENCE CAUTION: Sequence=CAA36281.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/SPI1ID269.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SPI1
Diseases sorted by gene-association score: neutrophil-specific granule deficiency (3), specific granule deficiency (3), poikiloderma with neutropenia (1), parotid gland cancer (1), leukemia, acute myeloid (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 439.24 RPKM in Whole Blood
Total median expression: 812.69 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -82.90194-0.427 Picture PostScript Text
3' UTR -130.00367-0.354 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000418 - Ets
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF00178 - Ets-domain

SCOP Domains:
46785 - "Winged helix" DNA-binding domain

ModBase Predicted Comparative 3D Structure on P17947
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0000982 transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001047 core promoter binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001085 RNA polymerase II transcription factor binding
GO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
GO:0051525 NFAT protein binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001944 vasculature development
GO:0002320 lymphoid progenitor cell differentiation
GO:0002573 myeloid leukocyte differentiation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0030098 lymphocyte differentiation
GO:0030218 erythrocyte differentiation
GO:0030225 macrophage differentiation
GO:0030851 granulocyte differentiation
GO:0035019 somatic stem cell population maintenance
GO:0043011 myeloid dendritic cell differentiation
GO:0043966 histone H3 acetylation
GO:0044027 hypermethylation of CpG island
GO:0045347 negative regulation of MHC class II biosynthetic process
GO:0045646 regulation of erythrocyte differentiation
GO:0045814 negative regulation of gene expression, epigenetic
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0060033 anatomical structure regression
GO:0061614 pri-miRNA transcription from RNA polymerase II promoter
GO:0071361 cellular response to ethanol
GO:0090241 negative regulation of histone H4 acetylation
GO:1902262 apoptotic process involved in blood vessel morphogenesis
GO:1902895 positive regulation of pri-miRNA transcription from RNA polymerase II promoter

Cellular Component:
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  X52056 - Human mRNA for spi-1 proto-oncogene.
JD406318 - Sequence 387342 from Patent EP1572962.
JD523263 - Sequence 504287 from Patent EP1572962.
JD127040 - Sequence 108064 from Patent EP1572962.
JD405804 - Sequence 386828 from Patent EP1572962.
JD464430 - Sequence 445454 from Patent EP1572962.
JD405869 - Sequence 386893 from Patent EP1572962.
JD336189 - Sequence 317213 from Patent EP1572962.
BC111379 - Synthetic construct Homo sapiens clone IMAGE:40080653, MGC:133441 SPI1 protein (SPI1) mRNA, encodes complete protein.
AB464244 - Synthetic construct DNA, clone: pF1KB9697, Homo sapiens SPI1 gene for spleen focus forming virus (SFFV) proviral integration oncogene spi1, without stop codon, in Flexi system.
AK310065 - Homo sapiens cDNA, FLJ17107.
JD108790 - Sequence 89814 from Patent EP1572962.
JD468341 - Sequence 449365 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P17947 (Reactome details) participates in the following event(s):

R-HSA-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000378538.1, ENST00000378538.2, ENST00000378538.3, ENST00000378538.4, ENST00000378538.5, ENST00000378538.6, ENST00000378538.7, NM_003120, P17947, SPI1_HUMAN, uc318oiy.1, uc318oiy.2
UCSC ID: ENST00000378538.8_12
RefSeq Accession: NM_003120.3
Protein: P17947 (aka SPI1_HUMAN or PU1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.