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SP100 Gene

protein-coding   GIFtS: 67
GCID: GC02P231280

SP100 Nuclear Antigen

(Previous name: nuclear antigen Sp100)
  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)
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Aliases
SP100 Nuclear Antigen1 2     lysp100b2
Nuclear Dot-Associated Sp100 Protein2 3     Nuclear Autoantigen Sp-1002
Speckled 100 KDa2 3     SP100-HMG Nuclear Autoantigen2
Nuclear Antigen Sp1001     

External Ids:    HGNC: 112061   Entrez Gene: 66722   Ensembl: ENSG000000670667   OMIM: 6045855   UniProtKB: P234973   

Export aliases for SP100 gene to outside databases

Previous GC identifers: GC02P229341 GC02P230012 GC02P231245 GC02P231483 GC02P231106 GC02P230991 GC02P223121


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SP100 Gene:
This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear
bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body
interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis,
immunity, and gene regulation. Alternatively spliced variants have been identified for this gene; one of which
encodes a high-mobility group protein. (provided by RefSeq, Aug 2011)

GeneCards Summary for SP100 Gene:
SP100 (SP100 nuclear antigen) is a protein-coding gene. Diseases associated with SP100 include primary biliary cirrhosis, and herpes simplex. GO annotations related to this gene include protein homodimerization activity and transcription factor binding. An important paralog of this gene is SP110.

UniProtKB/Swiss-Prot: SP100_HUMAN, P23497
Function: Together with PML, this tumor suppressor is a major constituent of the PML bodies, a subnuclear
organelle involved in a large number of physiological processes including cell growth, differentiation and
apoptosis. Functions as a transcriptional coactivator of ETS1 and ETS2 according to PubMed:11909962. Under
certain conditions, it may also act as a corepressor of ETS1 preventing its binding to DNA according to
PubMed:15247905. Through the regulation of ETS1 it may play a role in angiogenesis, controlling endothelial cell
motility and invasion. Through interaction with the MRN complex it may be involved in the regulation of telomeres
lengthening. May also regulate TP53-mediated transcription and through CASP8AP2, regulate FAS-mediated apoptosis.
Also plays a role in infection by viruses, including human cytomegalovirus and Epstein-Barr virus, through
mechanisms that may involve chromatin and/or transcriptional regulation




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the SP100 gene promoter:
         TBP   GR   HOXA3   AML1a   GATA-1   Pax-3   POU2F1   POU2F1a   TFIID   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SP100 promoter sequence
   Search Chromatin IP Primers for SP100

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SP100


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

Entrez Gene cytogenetic band: 2q37.1   Ensembl cytogenetic band:  2q37.1   HGNC cytogenetic band: 2q37.1

SP100 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SP100 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P231280:  view genomic region     (about GC identifiers)

Start:
231,280,657 bp from pter      End:
231,410,317 bp from pter
Size:
129,661 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SP100_HUMAN, P23497 (See protein sequence)
Recommended Name: Nuclear autoantigen Sp-100  
Size: 879 amino acids; 100417 Da
Subunit: Homodimer; isoforms are able to heterodimerize. Interacts with members of the HP1 family of nonhistone
chromosomal protein, such as CBX5 and CBX3 via the PxVxL motif. Interacts with ETS1; the interaction is direct
and modulates ETS1 transcriptional activity. Interacts with the MRN complex which is composed of two heterodimers
RAD50/MRE11A associated with a single NBN; recruits the complex to PML-related bodies. Interacts with HIPK2;
positively regulates TP53-dependent transcription. Interacts with CASP8AP2; may negatively regulate CASP8AP2
export from the nucleus to the cytoplasm. Interacts with Epstein-Barr virus EBNA-LP; this interaction is
important for EBNA-LP coactivator activity. Interacts with human cytomegalovirus/HHV-5 protein UL123; may play a
role in infection by the virus
Miscellaneous: The major isoform Sp100-A, has a calculated molecular weight of 54 kDa, but exhibits aberrant
electrophoretic mobilities, with an apparent molecular weight of 100 kDa
1 PDB 3D structure from and Proteopedia for SP100:
1H5P (3D)    
Secondary accessions: B4DDX5 B8ZZD8 E9PH61 F8WFE2 O75450 Q13343 Q8TE34 Q96F70 Q96T24 Q96T95
Q9NP33 Q9UE32
Alternative splicing: 7 isoforms:  P23497-1   P23497-2   P23497-3   P23497-4   P23497-5   P23497-6   P23497-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SP100: NX_P23497

Explore proteomics data for SP100 at MOPED

Post-translational modifications: 

  • Sumoylated. Sumoylation depends on a functional nuclear localization signal but is not necessary for nuclear
    import or nuclear body targeting1
  • Sumoylated. Sumoylated with SUMO1. Sumoylation depends on a functional nuclear localization signal but is not
    necessary for nuclear import or nuclear body targeting. Sumoylation may stabilize the interaction with CBX51
  • Ubiquitination2 at Lys151
  • Modification sites at PhosphoSitePlus

  • See SP100 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001073860.1  NP_001193630.1  NP_001193631.1  NP_001193632.1  NP_001193633.1  NP_003104.2  

    ENSEMBL proteins: 
     ENSP00000264052   ENSP00000391616   ENSP00000387311   ENSP00000386404   ENSP00000386427  
     ENSP00000343023   ENSP00000386998   ENSP00000400277   ENSP00000416563   ENSP00000393679  
     ENSP00000399389   ENSP00000342729  
    Reactome Protein details: P23497

    SP100 Human Recombinant Protein Products:

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    Novus Biologicals SP100 Proteins
    Novus Biologicals SP100 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for SP100
    Browse Proteins at Cloud-Clone Corp.

    SP100 Antibody Products:

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    SP100 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PHF: Zinc fingers, PHD-type

    4 InterPro protein domains:
     IPR009071 HMG_box_dom
     IPR010919 SAND_dom-like
     IPR004865 Sp100
     IPR000770 SAND_dom

    Graphical View of Domain Structure for InterPro Entry P23497

    ProtoNet protein and cluster: P23497

    4 Blocks protein domains:
    IPB000135 High mobility group proteins HMG1 and HMG2
    IPB000770 SAND domain
    IPB004865 Sp100 domain
    IPB010919 SAND-like


    UniProtKB/Swiss-Prot: SP100_HUMAN, P23497
    Domain: The HSR domain is important for the nuclear body targeting as well as for the dimerization
    Domain: Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow
    domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the
    chromoshadow domain
    Similarity: Contains 2 HMG box DNA-binding domains
    Similarity: Contains 1 HSR domain
    Similarity: Contains 1 SAND domain


    SP100 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SP100_HUMAN, P23497
    Function: Together with PML, this tumor suppressor is a major constituent of the PML bodies, a subnuclear
    organelle involved in a large number of physiological processes including cell growth, differentiation and
    apoptosis. Functions as a transcriptional coactivator of ETS1 and ETS2 according to PubMed:11909962. Under
    certain conditions, it may also act as a corepressor of ETS1 preventing its binding to DNA according to
    PubMed:15247905. Through the regulation of ETS1 it may play a role in angiogenesis, controlling endothelial cell
    motility and invasion. Through interaction with the MRN complex it may be involved in the regulation of telomeres
    lengthening. May also regulate TP53-mediated transcription and through CASP8AP2, regulate FAS-mediated apoptosis.
    Also plays a role in infection by viruses, including human cytomegalovirus and Epstein-Barr virus, through
    mechanisms that may involve chromatin and/or transcriptional regulation
    Induction: Up-regulated by interferon, retinoic acid, TNF-alpha/TNFA and lipopolysaccharide (at protein level).
    Up-regulated following heat-shock

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003713transcription coactivator activity IDA14647468
    GO:0003714transcription corepressor activity IDA15247905
    GO:0005515protein binding IPI11313457
    GO:0008134transcription factor binding IPI11909962
         
    SP100 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SP100:
     Increased cell death in HCC-19  Synthetic lethal with imatinib 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SP100
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SP100

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SP100
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SP100

    miRNA
    Products:
        
    miRTarBase miRNAs that target SP100:
    hsa-let-7b-5p (MIRT032264)

    Block miRNA regulation of human, mouse, rat SP100 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SP100 (see all 10):
    hsa-miR-505 hsa-miR-576-5p hsa-miR-875-3p hsa-miR-3065-5p hsa-miR-4263 hsa-miR-4261 hsa-miR-1243 hsa-miR-378*
    SwitchGear 3'UTR luciferase reporter plasmidSP100 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SP100
    Predesigned siRNA for gene silencing in human, mouse, rat SP100

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SP100

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 6): SP100 (NM_003113)
    Sino Biological Human cDNA Clone for SP100
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SP100
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SP100

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SP100 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SP100


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SP100_HUMAN, P23497: Nucleus. Nucleus, PML body. Cytoplasm. Note=Differences in the subnuclear localization of
    the different isoforms seem to exist and may also be cell cycle- and interferon-dependent. Accumulates in the
    cytoplasm upon FAS activation
    SP100_HUMAN, P23497: Isoform Sp100-C: Nucleus. Note=Forms a reticulate or track-like nuclear pattern with denser
    concentrations at the nuclear lamina and surrounding the nucleoli, a pattern reminiscent of heterochromatin-rich
    regions according to PubMed:11313457
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730nucleolus IMP11313457
    GO:0005737cytoplasm IDA17245429
    GO:0016605PML body IDA11313457

    SP100 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SP100 About    
    See pathways by source

    SuperPathContained pathways About
    1Interferon Signaling
    Interferon Signaling0.59
    Interferon gamma signaling0.41
    Cytokine Signaling in Immune system0.59
    2Proteolysis Putative SUMO 1 pathway
    Proteolysis Putative SUMO 1 pathway0.33
    3Influenza A
    Herpes simplex infection0.33
    44-1BB Pathway
    SUMO Pathway0.30
    5Viral carcinogenesis
    Viral carcinogenesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SP100
        SUMO Pathway

    1 GeneGo (Thomson Reuters) Pathway for SP100
        Proteolysis Putative SUMO-1 pathway


    1 Reactome Pathway for SP100
        Interferon gamma signaling


    2 Kegg Pathways  (Kegg details for SP100):
        Herpes simplex infection
    Viral carcinogenesis


    SP100 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SP100
    Interactions:

        GeneGlobe Interaction Network for SP100

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

    Selected Interacting proteins for SP100 (P234971, 2, 3 ENSP000003430234) via UniProtKB, MINT, STRING, and/or I2D (see all 93)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CASP8AP2Q9UKL31, 2, 3EBI-751145,EBI-2339650 MINT-4298689 MINT-4298663 MINT-4298616 MINT-4298595 MINT-4298639 I2D: score=2 
    SUMO1P631652, 3, ENSP000003760764MINT-68030 I2D: score=6 STRING: ENSP00000376076
    SNIP1Q8TAD82, 3MINT-62168 I2D: score=3 
    CALM1P621583I2D: score=1 
    CALM2P621583I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 26):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA15247905
    GO:0000723telomere maintenance IMP15767676
    GO:0006351transcription, DNA-templated IEA--
    GO:0006978DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IDA14647468
    GO:0010596negative regulation of endothelial cell migration IMP15592518

    SP100 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SP100

    2 Novoseek inferred chemical compound relationships for SP100 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 2.42 1 11264371 (1)
    zinc 0 1 12595897 (1)



    SP100 for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SP100 gene (6 alternative transcripts): 
    NM_001080391.1  NM_001206701.1  NM_001206702.1  NM_001206703.1  NM_001206704.1  NM_003113.3  

    Unigene Cluster for SP100:

    SP100 nuclear antigen
    Hs.369056  [show with all ESTs]
    Unigene Representative Sequence: NM_001080391
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000264052(uc010zmb.2 uc002vqt.3) ENST00000432979 ENST00000409824
    ENST00000409341(uc002vqq.2) ENST00000409112(uc002vqs.3) ENST00000340126(uc002vqu.1)
    ENST00000409897(uc002vqv.2) ENST00000470940 ENST00000466710 ENST00000413284
    ENST00000452345 ENST00000462751 ENST00000494508 ENST00000492546 ENST00000459786
    ENST00000431952(uc010fxp.1) ENST00000494901 ENST00000488180
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SP100 (see all 10):
    hsa-miR-505 hsa-miR-576-5p hsa-miR-875-3p hsa-miR-3065-5p hsa-miR-4263 hsa-miR-4261 hsa-miR-1243 hsa-miR-378*
    SwitchGear 3'UTR luciferase reporter plasmidSP100 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 6): SP100 (NM_003113)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SP100
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat SP100
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      QuantiFast Probe-based Assays in human, mouse, rat SP100

    Additional mRNA sequence: 

    AF056322.1 AF255565.1 AK091898.1 AK293373.1 AK304205.1 BC011562.1 CR749288.1 L79987.1 
    L79988.1 M60618.1 U36501.1 

    Selected DOTS entries (see all 25):

    DT.95201549  DT.100812010  DT.417890  DT.97759968  DT.99966858  DT.100812012  DT.92433977  DT.120949411 
    DT.95201551  DT.91942938  DT.417892  DT.92433973  DT.99936220  DT.100800332  DT.100812011  DT.95074494 
    DT.100812005  DT.100812009  DT.120949365  DT.120949413  DT.40132837  DT.91984281  DT.92003248  DT.409178 

    Selected AceView cDNA sequences (see all 323):

    BE869308 CR601757 BM677472 CD366515 BQ017208 AI902667 AI886092 CR749288 
    CB216535 AF255565 AA558802 T95574 AI753406 CN482955 BU178835 AW474155 
    BF516261 BC011562 BU507268 BM997454 AA341731 AL554153 BQ581499 AW069124 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SP100    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:                                                                                            -                                                               
    SP2:        -           -                                                                       -                                                               
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 24
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for SP100

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SP100 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTAACAGAA
    SP100 Expression
    About this image


    SP100 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Adult Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Adult Endothelial Cells Blood Brain Barrier
             Human umbilical vein endothelial cells (HUVEC)
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     NULL (Uncategorized)
             CD31, CD144 positive cells
     
     Bone (Muscoskeletal System)
             Bone Marrow
    SP100 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SP100 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.369056

    UniProtKB/Swiss-Prot: SP100_HUMAN, P23497
    Tissue specificity: Widely expressed. Sp100-B is expressed only in spleen, tonsil, thymus, mature B-cell line and
    some T-cell line, but not in brain, liver, muscle or non-lymphoid cell lines

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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SP100 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sp1005 nuclear antigen Sp100   --   1 (43.60 cM) 85649988 
    zebrafish
    (Danio rerio)
    Actinopterygii BX569789.26
    BX569789.46
    (see all 3)
    Uncharacterized protein
    (see all 3)
    37(a)
    24(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    3(24837780-24845598) ENSDARG00000055359
    3(24862707-24880269) ENSDARG00000090449


    ENSEMBL Gene Tree for SP100 (if available)
    TreeFam Gene Tree for SP100 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SP100 gene
    SP1102  SP1402  SP140L2  
    14 SIMAP similar genes for SP100 using alignment to 11 protein entries:     SP100_HUMAN (see all proteins):
    FLJ00340    HMGB1P1    DKFZp686E07254    SP140L    HMGB1    HMGB2
    HMGB3    HMG1    SP110    HMGB4    DKFZp779G118    SP140
    AIRE    WUGSC

    SP100 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SP100
    PGOHUM00000236327


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SP100 (see all 2867)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1434694461,2
    --230649153(+) AGCCAC/TGGAAA 5 -- us2k10--------
    rs37549411,2
    C,F,A,H--230649169(+) CCAGGA/GGTTCC 5 -- us2k117Minor allele frequency- G:0.12EA NS NA 3688
    rs1151707531,2
    C,F--230649182(+) TATTTC/TCTTCT 5 -- us2k11Minor allele frequency- T:0.02NA 120
    rs37549421,2
    C,F,A,H--230649219(+) ACATGT/ACTTCT 5 -- us2k125Minor allele frequency- A:0.30NA NS EA WA CSA 2495
    rs37549431,2
    C,F,H--230649236(+) GGTCCC/TGTCCC 5 -- us2k1 tfbs318Minor allele frequency- T:0.30NA NS EA WA CSA 935
    rs1881992961,2
    --230649275(+) TTTTCC/TGGATC 5 -- us2k10--------
    rs603044511,2
    C--230649331(+) ACCAGC/TGGAGC 5 -- us2k14Minor allele frequency- T:0.12NA WA EA 360
    rs126948641,2
    C,F,A,H--230649461(+) GCCAGC/TCTGTG 5 -- us2k113Minor allele frequency- T:0.09NA NS EA WA 922
    rs129879481,2
    C,F,H--230649498(+) TGCTCT/ATAGTA 5 -- us2k115Minor allele frequency- A:0.21NA NS EA WA CSA 812
    rs1479745501,2
    --230649601(+) GAGAAC/TGTGAA 5 -- us2k10--------

    HapMap Linkage Disequilibrium report for SP100 (231280657 - 231410317 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SP100 (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2721601CNV Deletion23290073
    esv2721602CNV Deletion23290073
    esv2087998CNV Deletion18987734
    esv2721598CNV Deletion23290073
    esv2721603CNV Deletion23290073
    esv2721604CNV Deletion23290073
    esv1035307CNV Deletion17803354
    esv2481105CNV Deletion19546169
    esv3308CNV Deletion18987735
    esv2721597CNV Deletion23290073

    Human Gene Mutation Database (HGMD): SP100
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SP100
    DNA2.0 Custom Variant and Variant Library Synthesis for SP100

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604585    OMIM disorders: --

    19 diseases for SP100:    
    About MalaCards
    primary biliary cirrhosis    herpes simplex    autoimmune hepatitis    sclerosing cholangitis
    cholangitis    cytomegalovirus infection    mantle cell lymphoma    teratocarcinoma
    connective tissue disease    influenza    tonsillitis    leukemia
    narcolepsy    liver disease    laryngitis    pneumonia
    endotheliitis    hepatitis    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for SP100:
    Primary biliary cirrhosis     Autoimmune hepatitis     Leukemia

    SP100 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for SP100 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    promyelocytic leukemia 87.3 12 8681971 (3), 9362351 (2), 10525530 (1), 15778999 (1) (see all 9)
    biliary cirrhosis primary 78.9 10 1281200 (2), 9362351 (2), 1384113 (1), 7631159 (1) (see all 8)
    leukemia promyelocytic acute 68 1 9230084 (1)
    herpes simplex 50.7 2 18160441 (1), 19279115 (1)
    virus infection 37.8 4 15778999 (1), 10629941 (1), 9973607 (1), 19279115 (1)
    autoimmunity 34.9 2 9973607 (1), 8681971 (1)
    autoimmune response 31.3 2 9089912 (2)
    autoimmune diseases 24.2 5 7631159 (1), 8537240 (1), 9089912 (1), 9268632 (1) (see all 5)
    liver diseases 0 1 1281200 (1)
    tumors 0 1 18984860 (1)

    Genetic Association Database (GAD): SP100
    Human Genome Epidemiology (HuGE) Navigator: SP100 (4 documents)

    Export disorders for SP100 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)
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    PubMed articles for SP100 gene, integrated from 10 sources (see all 132):
    (articles sorted by number of sources associating them with SP100)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. LYSP100-associated nuclear domains (LANDs): description of a new class of subnuclear structures and their relationship to PML nuclear bodies. (PubMed id 8695863)1, 2, 3 Dent A.L....Staudt L.M. (Blood 1996)
    2. Isolation and characterization of cDNA encoding a human nuclear antigen predominantly recognized by autoantibodies from patients with primary biliary cirrhosis. (PubMed id 2258622)1, 2, 3 Szostecki C.... Will H. (J. Immunol. 1990)
    3. SP100 inhibits ETS1 activity in primary endothelial cells. (PubMed id 15592518)1, 2, 9 Yordy J.S.... Watson D.K. (Oncogene 2005)
    4. Splice variants of the nuclear dot-associated Sp100 protein contain homologies to HMG-1 and a human nuclear phosphoprotein-box motif. (PubMed id 9973607)1, 2, 9 Guldner H.H.... Sternsdorf T. (J. Cell Sci. 1999)
    5. Interaction of SP100 with HP1 proteins: a link between the promyelocytic leukemia-associated nuclear bodies and the chromatin compartment. (PubMed id 9636146)1, 2, 9 Seeler J.-S.... Dejean A. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    6. Sp100 is important for the stimulatory effect of homeodomain- interacting protein kinase-2 on p53-dependent gene expression. (PubMed id 14647468)1, 2, 9 Moeller A.... Schmitz M.L. (Oncogene 2003)
    7. Molecular archeology of an SP100 splice variant revisited: dating the retrotranscription and Alu insertion events. (PubMed id 11574059)1, 2, 9 Devor E.J. (Genome Biol. 2001)
    8. Common properties of nuclear protein SP100 and TIF1alpha chromatin factor: role of SUMO modification. (PubMed id 11313457)1, 2, 9 Seeler J.-S.... Dejean A. (Mol. Cell. Biol. 2001)
    9. The nuclear dot protein sp100, characterization of domains necessary for dimerization, subcellular localization, and modification by small ubiquitin-like modifiers. (PubMed id 10212234)1, 2, 9 Sternsdorf T.... Will H. (J. Biol. Chem. 1999)
    10. The interferon (IFN)-stimulated gene Sp100 promoter contains an IFN- gamma activation site and an imperfect IFN-stimulated response element which mediate type I IFN inducibility. (PubMed id 8810287)1, 2, 9 Groetzinger T.... Will H. (J. Biol. Chem. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 6672 HGNC: 11206 AceView: SP100 Ensembl:ENSG00000067066 euGenes: HUgn6672
    ECgene: SP100 Kegg: 6672 H-InvDB: SP100

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SP100 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SP100 gene:
    Search GeneIP for patents involving SP100

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



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