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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SPI1 Gene

protein-coding   GIFtS: 65
GCID: GC11M048800

Spleen Focus Forming Virus (SFFV) Proviral Integration Oncogene

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Spleen Focus Forming Virus (SFFV) Proviral Integration Oncogene1 2     OF2
31 KDa Transforming Protein1 2     PU.12
Hematopoietic Transcription Factor PU.11 2     SPI-12
SPI-1 Proto-Oncogene1 2     SPI-A2
31 KDa-Transforming Protein2 3     Spleen Focus Forming Virus (SFFV) Proviral Integration Oncogene Spi12
SFPI12 5     Transcription Factor PU.12

External Ids:    HGNC: 112411   Entrez Gene: 66882   Ensembl: ENSG000000663367   OMIM: 1651705   UniProtKB: P179473   

Export aliases for SPI1 gene to outside databases

Previous GC identifers: GC11M049316 GC11M048254 GC11M047408 GC11M047340 GC11M047332 GC11M047075 GC11M047430 GC11M048075


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (spleen focus forming virus (SFFV) proviral integration oncogene) is a protein-coding gene. Diseases associated with SPI1 include primary effusion lymphoma, and mediastinitis, and among its related super-pathways are Toll Comparative Pathway and Endometrial cancer. GO annotations related to this gene include RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is SPIB.

UniProtKB/Swiss-Prot: SPI1_HUMAN, P17947
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)

Gene Wiki entry for SPI1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPI1 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPI1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPI1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPI1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p11.2   Ensembl cytogenetic band:  11p11.2   HGNC cytogenetic band: 11p12-p11.22

SPI1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPI1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M048800:  view genomic region     (about GC identifiers)

Start:
47,376,409 bp from pter      End:
47,400,127 bp from pter
Size:
23,719 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SPI1_HUMAN, P17947 (See protein sequence)
Recommended Name: Transcription factor PU.1  
Size: 270 amino acids; 31083 Da
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
Subcellular location: Nucleus
Sequence caution: Sequence=CAA36281.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Alternative splicing: 2 isoforms:  P17947-1   P17947-2   

Explore the universe of human proteins at neXtProt for SPI1: NX_P17947

Explore proteomics data for SPI1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P17947

  • SPI1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPI1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001074016.1  NP_003111.2  

    ENSEMBL proteins: 
     ENSP00000367799   ENSP00000227163   ENSP00000443865   ENSP00000438846  

    Human Recombinant Protein Products for SPI1: 
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    OriGene Protein Over-expression Lysate for SPI1
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    Novus Biologicals SPI1 Proteins
    Novus Biologicals SPI1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SPI1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IDA15304486
    GO:0005634nucleus ----

    SPI1 for ontologies           About GeneDecksing



    SPI1 Antibody Products: 
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    Assay Products for SPI1: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SPI1 
    Cloud-Clone Corp. CLIAs for SPI1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR011991 WHTH_DNA-bd_dom
     IPR000418 Ets_dom

    Graphical View of Domain Structure for InterPro Entry P17947

    ProtoNet protein and cluster: P17947

    UniProtKB/Swiss-Prot: SPI1_HUMAN, P17947
    Similarity: Belongs to the ETS family
    Similarity: Contains 1 ETS DNA-binding domain


    SPI1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPI1_HUMAN, P17947
    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)
    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

         Genatlas biochemistry entry for SPI1:
    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

         Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000980RNA polymerase II distal enhancer sequence-specific DNA binding ISS--
    GO:0001047core promoter binding IDA--
    GO:0001085RNA polymerase II transcription factor binding ISS--
    GO:0001205RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA--
    GO:0003677DNA binding ----
         
    SPI1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for SPI1:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 

         14 MGI mutant phenotypes (inferred from 17 alleles(MGI details for Sfpi1):
     cellular  craniofacial  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  liver/biliary system  mortality/aging  nervous system  no phenotypic analysis 
     normal  skeleton  tumorigenesis  vision/eye 

    SPI1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SPI1: Spi1tm2.1Dgt Spi1tm1Rpd Spi1tm1.3Nutt Spi1tm1.1Rpd Spi1tm1.3Dgt Spi1tm1Ram
                                                         Spi1tm1.1Dgt Spi1tm1Sing

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SPI1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SPI1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPI1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPI1 

    miRNA
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    miRTarBase miRNAs that target SPI1:
    hsa-mir-569 (MIRT004827), hsa-mir-424 (MIRT005928), hsa-mir-34a (MIRT005724), hsa-mir-155 (MIRT004282)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPI1
    6 QIAGEN miScript miRNA Assays for microRNAs that regulate SPI1:
    hsa-miR-1538 hsa-miR-155 hsa-miR-1910 hsa-miR-31* hsa-miR-1289 hsa-miR-3657
    SwitchGear 3'UTR luciferase reporter plasmidSPI1 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPI1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SPI1 About   (see all 18)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Toll Comparative Pathway
    Immune response MIF in innate immunity response0.46
    2Endometrial cancer
    Acute myeloid leukemia0.40
    3BAFF in B-Cell Signaling
    RANKL/RANK Signaling Pathway0.31
    4Validated targets of C-MYC transcriptional repression
    Validated targets of C-MYC transcriptional repression
    5Type II interferon signaling (IFNG)
    Type II interferon signaling (IFNG)

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SPI1
        Immune response MIF in innate immunity response

    1 R&D Systems Pathway for SPI1
        IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types


    1 Cell Signaling Technology (CST) Pathway for SPI1
        Lymphocyte Signaling

    1 GeneGo (Thomson Reuters) Pathway for SPI1
        Immune response MIF in innate immunity response

    5/9 BioSystems Pathways for SPI1 (see all 9)
        Type II interferon signaling (IFNG)
    IL-4 signaling Pathway
    IL-3 Signaling Pathway
    RANKL/RANK Signaling Pathway
    Glucocorticoid receptor regulatory network


    5/6         Kegg Pathways  (Kegg details for SPI1) (see all 6):
        Osteoclast differentiation
    HTLV-I infection
    Epstein-Barr virus infection
    Pathways in cancer
    Transcriptional misregulation in cancer


    SPI1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPI1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/86 Interacting proteins for SPI1 (P179471, 3 ENSP000002271634) via UniProtKB, MINT, STRING, and/or I2D (see all 86)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HOXA10P312601, 3, ENSP000002839214EBI-2293548,EBI-2293516 I2D: score=3 STRING: ENSP00000283921
    JUNP054123, ENSP000003602664I2D: score=5 STRING: ENSP00000360266
    IRF8Q025563, ENSP000002686384I2D: score=4 STRING: ENSP00000268638
    NONOQ152333, ENSP000002760794I2D: score=4 STRING: ENSP00000276079
    ATF1P188463, ENSP000002620534I2D: score=3 STRING: ENSP00000262053
    About this table

    Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter TAS10867017
    GO:0001944vasculature development IEA--
    GO:0002320lymphoid progenitor cell differentiation IEA--
    GO:0002573myeloid leukocyte differentiation ----
    GO:0006355regulation of transcription, DNA-dependent ----

    SPI1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SPI1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SPI1

    6 Novoseek inferred chemical compound relationships for SPI1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-aza-2'deoxycytidine 21.6 2 16304050 (1)
    tyrosine 20.7 6 18794139 (1), 7478542 (1), 17361223 (1), 11865067 (1)
    leucine 10.7 1 16931285 (1)
    serine 5.61 4 11432724 (2), 11823535 (1)
    proline 0 2 11823535 (1)
    glutamate 0 2 11823535 (1)

    Search CenterWatch for drugs/clinical trials and news about SPI1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SPI1 gene (2 alternative transcripts): 
    NM_001080547.1  NM_003120.2  

    Unigene Cluster for SPI1:

    Spleen focus forming virus (SFFV) proviral integration oncogene spi1
    Hs.502511  [show with all ESTs]
    Unigene Representative Sequence: NM_001080547
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378538(uc001nfb.1 uc001nfc.1) ENST00000227163 ENST00000533030
    ENST00000533968(uc009ylp.1)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate SPI1:
    hsa-miR-1538 hsa-miR-155 hsa-miR-1910 hsa-miR-31* hsa-miR-1289 hsa-miR-3657
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK310065.1 X52056.1 

    7 DOTS entries:

    DT.212447  DT.100814731  DT.86855596  DT.91688064  DT.92034201  DT.92059421  DT.91688065 

    24/114 AceView cDNA sequences (see all 114):

    CR615071 BI909431 BI909430 BM726188 CR625357 CR599683 CR613003 BQ231837 
    BM701185 BI518855 AL133037 BF974477 BI519684 BI906692 BI752425 BP432550 
    CA440179 BG759265 BU739558 BI908555 BI822747 CA310166 CA309827 BI765624 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SPI1    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b
    SP1:                                                            
    SP2:                                                            
    SP3:              -     -                                       


    ECgene alternative splicing isoforms for SPI1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SPI1 expression in normal human tissues (normalized intensities)      SPI1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGACAGCA
    SPI1 Expression
    About this image


    SPI1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 11 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Cord Blood CD133- Cells   
             monocytes   
     
     Lymph (Hematopoietic System)    fully expand to see all 3 entries
             lymph node ; non-germinal center cells   
             LYMPH NODE   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 3 entries
             Cord Blood CD133- Cells   
     
     Tonsil (Hematopoietic System)    fully expand to see all 2 entries
             tonsil ; non-germinal center cells   
     
     Spleen (Hematopoietic System)    fully expand to see all 2 entries
             spleen ; cells in white pulp   

    See SPI1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPI1

    SOURCE GeneReport for Unigene cluster: Hs.502511
        SABiosciences Expression via Pathway-Focused PCR Arrays including SPI1: 
              Leukemia in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat
              Allergy & Asthma in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPI1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for SPI1 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sfpi11 , 5 SFFV proviral integration 11, 5 88.02(n)1
    88.52(a)1
      2 (50.44 cM)5
    203751  NM_011355.11  NP_035485.11 
     910823905 
    chicken
    (Gallus gallus)
    Aves SPI11 spleen focus forming virus (SFFV) proviral integration oncogene spi1 less 77.73(n)
    83.2(a)
      395879  NM_205023.1  NP_990354.1 
    lizard
    (Anolis carolinensis)
    Reptilia SPI16
    spleen focus forming virus (SFFV) proviral integra...
    73(a)
    1 ↔ 1
    1(44010910-44063922)
    zebrafish
    (Danio rerio)
    Actinopterygii spi12 spi1 75.2(n)   30117  BC056282.1 


    ENSEMBL Gene Tree for SPI1 (if available)
    TreeFam Gene Tree for SPI1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPI1 gene
    SPIB2  SPIC2  
    2 SIMAP similar genes for SPI1 using alignment to 3 protein entries:     SPI1_HUMAN (see all proteins):
    SPIC    SPIB

    SPI1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/663 SNPs in SPI1 are shown (see all 663)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1494361871,2
    --47376342(+) AGAGAC/TGTCGC 2 -- ds50010--------
    rs37406861,2
    C,F,A,H--47376363(+) GGCCAG/AAAGAG 2 -- ds500112Minor allele frequency- A:0.36EA NA WA CSA 1673
    rs1163305871,2
    C,F--47376421(+) TGAGAA/GTAACT 2 -- ut311Minor allele frequency- G:0.01WA 118
    rs1827461401,2
    --47376446(+) GGAGGA/CGGTTA 2 -- ut310--------
    rs10572331,2
    C,F,A,H--47376448(-) ATTAAT/CCTCCT 2 -- ut3113Minor allele frequency- C:0.36EA NS NA WA CSA 2063
    rs107471,2
    F--47376544(+) TGCCCC/GGGTGG 2 -- ut31 ese31Minor allele frequency- G:0.00MN 184
    rs2016856061,2
    C--47376831(+) TTCGCC/TGCTGA 4 S G mis10--------
    rs1426546171,2
    C,F--47376862(+) TTCACC/TTTCTT 4 K syn11Minor allele frequency- T:0.00NA 4488
    rs1509322361,2
    C--47376874(+) ACCTCG/TCCCGT 4 G syn11Minor allele frequency- T:0.00NA 4526
    rs1500856641,2
    C,F--47376927(+) CATCTT/GCTTGC 4 /K /Q mis12Minor allele frequency- G:0.00NA EU 5855

    HapMap Linkage Disequilibrium report for SPI1 (47376409 - 47400127 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SPI1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv992404CNV Insertion20482838
    nsv509404CNV Insertion20534489
    nsv513315CNV Insertion21212237
    nsv897323CNV Loss21882294
    esv275512CNV Loss21479260
    nsv832141CNV Loss17160897
    nsv825871CNV Gain20364138


    Human Gene Mutation Database (HGMD): SPI1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SPI1
    DNA2.0 Custom Variant and Variant Library Synthesis for SPI1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 165170    OMIM disorders: --

    20/28 diseases for SPI1 (see all 28):    About MalaCards
    primary effusion lymphoma    mediastinitis    stem cell leukemia    plasmacytoma
    pulmonary alveolar proteinosis    typhoid fever    chronic myeloid leukemia    acute promyelocytic leukemia
    microphthalmia    gastroenteritis    retinoblastoma    myeloid leukemia
    acute myeloid leukemia    multiple myeloma    hodgkin's lymphoma    t-cell leukemia
    non-hodgkin lymphoma    myeloma    acute leukemia    chronic lymphocytic leukemia

    1 disease from the University of Copenhagen DISEASES database for SPI1:
    Leukemia

    SPI1 for disorders           About GeneDecksing

    10/14 Novoseek inferred disease relationships for SPI1 gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    erythroleukemia 72.5 12 8502483 (3), 2338340 (2), 1620109 (1), 19955566 (1) (see all 9)
    leukemogenesis 40.6 4 17361223 (1), 15910240 (1)
    microphthalmia 40.2 3 15304486 (1), 16109714 (1), 19801646 (1)
    leukemia 38.7 6 16909135 (1), 16735999 (1), 11841448 (1), 16158816 (1) (see all 6)
    hodgkin disease 28.3 9 15339679 (4), 11696441 (1), 16648862 (1), 15796964 (1)
    myeloid leukemia 27 4 9826539 (1), 12393465 (1)
    lymphoma b-cell 20.4 6 15339679 (4), 12507907 (1), 15202521 (1)
    plasmacytoma 18.3 2 7670114 (1)
    lymphoma 18.2 1 19828640 (1)
    leukemia t-cell 14.5 1 9376596 (1)

    Genetic Association Database (GAD): SPI1
    Human Genome Epidemiology (HuGE) Navigator: SPI1 (4 documents)
    Tumor Gene Database (TGDB): SPI1

    Export disorders for SPI1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SPI1 gene, integrated from 9 sources (see all 266):
    (articles sorted by number of sources associating them with SPI1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human homologue of the putative proto-oncogene Spi-1: characterization and expression in tumors. (PubMed id 1693183)1, 2, 3, 9 Ray D.... Moreau-Gachelin F. (1990)
    2. Heterozygous deletion of the PU.1 locus in human AML. (PubMed id 19890096)1, 4 Bonadies N....Mueller B.U. (2010)
    3. The transcriptional repressor GFI-1 antagonizes PU.1 activity through protein-protein interaction. (PubMed id 17197705)1, 2 Dahl R....Simon M.C. (2007)
    4. Germline mutations in SPI1 and MADD do not contribute to familial chronic lymphocytic leukaemia. (PubMed id 17410194)1, 4 Sellick G.S....Houlston R.S. (2007)
    5. Functional and physical interactions between AML1 proteins and an ETS protein, MEF: implications for the pathogenesis of t(8;21)-positive leukemias. (PubMed id 10207087)1, 2 Mao S.... Nimer S.D. (1999)
    6. SPI-B activates transcription via a unique proline, serine, and threonine domain and exhibits DNA binding affinity differences from PU.1. (PubMed id 10196196)1, 2 Rao S.... Simon M.C. (1999)
    7. The myeloid master regulator transcription factor PU.1 is inactivated by AML1-ETO in t(8;21) myeloid leukemia. (PubMed id 12393465)1, 9 Vangala R.K....Behre G. (2003)
    8. Roles of PU.1 in monocyte- and mast cell-specific gen e regulation: PU.1 transactivates CIITA pIV in cooperation with IFN-gamma. (PubMed id 19502584)1, 9 Ito T....Okumura K. (2009)
    9. Carrier-independent nuclear import of the transcription factor PU.1 via RanGTP-stimulated binding to Nup153. (PubMed id 15632149)1, 9 Zhong H....Yaseen N.R. (2005)
    10. Negative cross-talk between hematopoietic regulators: GATA proteins repress PU.1. (PubMed id 10411939)1, 9 Zhang P....Sun Z. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6688 HGNC: 11241 AceView: SPI1 Ensembl:ENSG00000066336 euGenes: HUgn6688
    ECgene: SPI1 Kegg: 6688 H-InvDB: SPI1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SPI1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SPI1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SPI1 gene:
    Search GeneIP for patents involving SPI1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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