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

SP100 Gene

protein-coding   GIFtS: 61
GCID: GC02P231280

SP100 nuclear antigen

(Previous name: nuclear antigen Sp100 )
 Explore 18 diseases affiliated with
SP100 via our new
 Human Malady Compendium 
Biological research products
for SP100
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
SP100 Nuclear Antigen1 2     Lysp100b3
Nuclear Dot-Associated Sp100 Protein2 3     Nuclear Autoantigen Sp-1002
Speckled 100 KDa2 3     SP100-HMG Nuclear Autoantigen2
Nuclear Antigen Sp1001     Lysp100b3

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

Entrez Gene summary for SP100:
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)

UniProtKB/Swiss-Prot: SP100_HUMAN, P23497
Function: May play a role in the control of gene expression




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SP100

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SP100_HUMAN, P23497 (See protein sequence)
Recommended Name: Nuclear autoantigen Sp-100  
Size: 879 amino acids; 100417 Da
Subunit: Homodimer. Splice variants heterodimerize. Interacts with members of the HP1 family of nonhistone chromosomal
protein, such as CBX5 and CBX3 via the PxVxL motif. Interacts with Epstein-Barr virus EBNA-LP. Interacts with human
cytomegalovirus/HHV-5 protein UL123
Subcellular location: Nucleus, PML body. Note=Found in the nuclear body, also known as nuclear domain 10 (ND10), PML
oncogenic domain (POD), nuclear dots (ND) and KR body. The nuclear body is a nucleoplasmic structure of punctate
shape, which varies in size and number. Induction by interferon and may be cell cycle stages modulate the subnuclear
localization of the isoforms
Miscellaneous: The major isoform Sp100-A, has a calculated MW of 54 kDa, but exhibits aberrant electrophoretic
mobilities, with an apparent MW 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

Post-translational modifications:

  • Sumoylated. Sumoylation depends on a functional nuclear localization signal but is not necessary for nuclear import or
  • nuclear body targeting1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P23497

  • SP100 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Novus Biologicals SP100 Proteins
    Novus Biologicals SP100 Lysate
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for SP100
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730nucleolus IMP11313457
    GO:0005737cytoplasm IDA9412458
    GO:0016605PML body IDA9636146


    SP100 for ontologies           About GeneDecksing



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    Browse ELISAs and CLIAs at Uscn


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SP100 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR009071 HMG_superfamily
     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 families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: SP100_HUMAN, P23497
    Function: May play a role in the control of gene expression
    Induction: By interferon

    miRNA
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    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SP100

    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:0003677DNA binding IEA--
    GO:0003713transcription coactivator activity IDA14647468
    GO:0003714transcription corepressor activity IDA16873258
    GO:0005515protein binding IPI9636146
    GO:0008134transcription factor binding IPI11909962


    SP100 for ontologies           About GeneDecksing


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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Interferon gamma signaling
    Interferon gamma signaling1.00
    Expression of IFNG-stimulated genes0.72
    2Proteolysis Putative SUMO-1 pathway
    Proteolysis Putative SUMO-1 pathway1.00
    Proteolysis_Putative SUMO-1 pathway0.97
    3Cytokine Signaling in Immune system
    Cytokine Signaling in Immune system1.00
    Interferon Signaling0.61
    4Immune System
    Immune System1.00
    54-1BB Pathway
    SUMO Pathway0.30

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for SP100
        Proteolysis Putative SUMO-1 pathway

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

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

    5        Reactome Pathways for SP100
        Interferon gamma signaling
    Cytokine Signaling in Immune system
    Expression of IFNG-stimulated genes
    Interferon Signaling
    Immune System



    SP100 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SP100

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

    5/83 Interacting proteins for SP100 (P234971, 2, 3 ENSP000003430234) via UniProtKB, MINT, STRING, and/or I2D (see all 83)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CASP8AP2Q9UKL32, 3MINT-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): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA15247905
    GO:0006978DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IDA14647468
    GO:0019048virus-host interaction IEA--
    GO:0019221cytokine-mediated signaling pathway TAS--
    GO:0032526response to retinoic acid IDA11313457


    SP100 for ontologies           About GeneDecksing



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

    SP100 for compounds           About GeneDecksing

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

    Browse Tocris compounds for SP100
    2 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about SP100 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/20 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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    8/10 QIAGEN miScript miRNA 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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    Additional cDNA sequence: 

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

    24/25 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 

    24/323 AceView cDNA sequences (see all 323):

    BM922530 BM744037 AW590715 NM_003113 BQ581499 AL554153 CR749288 CA447975 
    CB851577 CR613678 BM905778 AI902667 CB216535 AF255565 CB164671 BF516261 
    CN482955 BM723015 AI902668 AI886092 BU507268 AI753406 BP342835 AA278237 

    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™, 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

    SP100 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTAACAGAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    SP100 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainBlood Brain BarrierAdult Endothelial CellsBlood Brain Barrier, Endothelium
    HeartMyocardiumMature Cardiac FibroblastsEpicardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    CD31, CD144 positive cells (Two-step protocol fo...)

    See SP100 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SP100

    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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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SP100

    (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 SP100 gene from 2/6 species (see all 6)    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
    BX569789.56
    --
    35(a)
    24(a)
    many ↔ many
    many ↔ many
    3(24837780-24845598)
    3(24862707-24880269)


    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)
    About This Section
    Paralogs for SP100 gene
    SP1102  SP140L2  SP1402  
    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, UniProtKB, 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

    10/2440 NCBI SNPs in SP100 are shown (see all 2440    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1434694461,2
    --231278913(+) AGCCAC/TGGAAA 5 -- us2k10--------
    rs37549411,2
    C,F,A,H,--231278929(+) CCAGGA/GGTTCC 5 -- us2k117Minor allele frequency- G:0.12EA NS NA 3688
    rs1151707531,2
    F,--231278942(+) TATTTC/TCTTCT 5 -- us2k11Minor allele frequency- T:0.02NA 120
    rs37549421,2
    C,F,A,H,--231278979(+) ACATGT/ACTTCT 5 -- us2k125Minor allele frequency- A:0.30NA NS EA WA CSA 2495
    rs37549431,2
    C,F,H,--231278996(+) GGTCCC/TGTCCC 5 -- us2k1 tfbs318Minor allele frequency- T:0.30NA NS EA WA CSA 935
    rs1881992961,2
    --231279035(+) TTTTCC/TGGATC 5 -- us2k10--------
    rs603044511,2
    --231279091(+) ACCAGC/TGGAGC 5 -- us2k14Minor allele frequency- T:0.12NA WA EA 360
    rs126948641,2
    C,F,A,H,--231279221(+) GCCAGC/TCTGTG 5 -- us2k113Minor allele frequency- T:0.09NA NS EA WA 922
    rs129879481,2
    C,F,H,--231279258(+) TGCTCT/ATAGTA 5 -- us2k115Minor allele frequency- A:0.21NA NS EA WA CSA 812
    rs1479745501,2
    --231279361(+) GAGAAC/TGTGAA 5 -- us2k10--------

    HapMap Linkage Disequilibrium report for SP100 (231280657 - 231410317 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for SP100
         2 CNVs: 63325 98165
         5 Indels: 26585 45959 40425 61889 42440
    Human Gene Mutation Database (HGMD): SP100

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    (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.)
    About This Section

    SP100 for disorders           About GeneDecksing

    OMIM gene information: 604585    OMIM disorders: --

    18 diseases for SP100:    About MalaCards
    leukemia    connective tissue disease    primary biliary cirrhosis    sclerosing cholangitis
    herpes simplex    mantle cell lymphoma    cytomegalovirus infection    cholangitis
    lupus erythematosus    autoimmune hepatitis    laryngitis    teratocarcinoma
    influenza    laryngeal cancer    tonsillitis    pneumonia
    hepatitis    neuronitis

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

    10/11 Novoseek 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)

    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)
    About This Section

    PubMed articles for SP100 gene, integrated from 9 sources (see all 119):
    (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. (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. (1990)
    3. 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. (1999)
    4. 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. (1998)
    5. Molecular archeology of an SP100 splice variant revisited: dating the retrotranscription and Alu insertion events. (PubMed id 11574059)1, 2, 9 Devor E.J. (2001)
    6. 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. (2001)
    7. 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. (1999)
    8. 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. (1996)
    9. Human cytomegalovirus infection causes degradation of Sp100 proteins that suppress viral gene expression. (PubMed id 21880768)1, 2 Kim Y.E....Ahn J.H. (2011)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)

    (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: 6672 HGNC: 11206 AceView: SP100 Ensembl:ENSG00000067066 euGenes: HUgn6672
    ECgene: SP100 H-InvDB: SP100

    (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 SP100 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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