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

SPOP Gene

protein-coding   GIFtS: 58
GCID: GC17M047676

Speckle-Type POZ Protein

  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
Speckle-Type POZ Protein1 2
Roadkill Homolog 12 3
HIB Homolog 12 3
BTBD322
TEF22

External Ids:    HGNC: 112541   Entrez Gene: 84052   Ensembl: ENSG000001210677   OMIM: 6026505   UniProtKB: O437913   

Export aliases for SPOP gene to outside databases

Previous GC identifers: GC17M047388 GC17M050157 GC17M048019 GC17M048152 GC17M045032 GC17M043042


(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 SPOP Gene:
This gene encodes a protein that may modulate the transcriptional repression activities of death-associated
protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone-associated proteins.
In mouse, the encoded protein binds to the putative leucine zipper domain of macroH2A1.2, a variant H2A histone
that is enriched on inactivated X chromosomes. The BTB/POZ domain of this protein has been shown in other
proteins to mediate transcriptional repression and to interact with components of histone deacetylase
co-repressor complexes. Alternative splicing of this gene results in multiple transcript variants encoding the
same protein. (provided by RefSeq, Jul 2008)

GeneCards Summary for SPOP Gene: 
SPOP (speckle-type POZ protein) is a protein-coding gene. Diseases associated with SPOP include mulibrey nanism, and kidney cancer, and among its related super-pathways are Processing of Capped Intron-Containing Pre-mRNA. GO annotations related to this gene include protein binding and ubiquitin protein ligase binding. An important paralog of this gene is KBTBD4.

UniProtKB/Swiss-Prot: SPOP_HUMAN, O43791
Function: Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates
the ubiquitination of target proteins, leading most often to their proteasomal degradation. In complex with CUL3,
involved in ubiquitination and proteasomal degradation of BRMS1, DAXX, PDX1/IPF1, GLI2 and GLI3. In complex with
CUL3, involved in ubiquitination of H2AFY and BMI1; this does not lead to their proteasomal degradation. Inhibits
transcriptional activation of PDX1/IPF1 targets, such as insulin, by promoting PDX1/IPF1 degradation. The
cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex containing homodimeric SPOP has higher
ubiquitin ligase activity than the complex that contains the heterodimer formed by SPOP and SPOPL

Gene Wiki entry for SPOP 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_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPOP gene promoter:
         NF-1   NF-1/L   GATA-3   AREB6   CREB   POU2F1   POU2F1a   deltaCREB   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPOP promoter sequence
   Search SABiosciences Chromatin IP Primers for SPOP

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


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

Entrez Gene cytogenetic band: 17q21.33   Ensembl cytogenetic band:  17q21.33   HGNC cytogenetic band: 17q21.33

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M047676:  view genomic region     (about GC identifiers)

Start:
47,676,246 bp from pter      End:
47,755,596 bp from pter
Size:
79,351 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: SPOP_HUMAN, O43791 (See protein sequence)
Recommended Name: Speckle-type POZ protein  
Size: 374 amino acids; 42132 Da
Subunit: Interacts with GLI2 and GLI3 (By similarity). Homodimer and homooligomer. Heterodimer with SPOPL. Each
dimer interacts with two CUL3 molecules. Part of cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein
ligase complexes that contain CUL3 and homodimeric SPOP, or the heterodimer formed by SPOP and SPOPL, plus a
target protein, such as H2AFY, PDX1/IPF1, BMI1, BRMS1 and DAXX
Subcellular location: Nucleus. Nucleus speckle
Miscellaneous: Antigen recognized by serum from scleroderma patient
6/12 PDB 3D structures from and Proteopedia for SPOP (see all 12):
2CR2 (3D)        3HQH (3D)        3HQI (3D)        3HQL (3D)        3HQM (3D)        3HSV (3D)    
Secondary accessions: B2R6S3 D3DTW7 Q53HJ1

Explore the universe of human proteins at neXtProt for SPOP: NX_O43791

Explore proteomics data for SPOP at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43791

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

    SPOP Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_001007227.1  NP_001007228.1  NP_001007229.1  NP_001007230.1  NP_001007231.1  NP_003554.1  

    ENSEMBL proteins: 
     ENSP00000377001   ENSP00000425905   ENSP00000420908   ENSP00000423284   ENSP00000426986  
     ENSP00000420960   ENSP00000425604   ENSP00000426262   ENSP00000424119   ENSP00000426537  
     ENSP00000422609   ENSP00000425410   ENSP00000427419   ENSP00000423076   ENSP00000377004  
     ENSP00000240327  

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    ProSpec Recombinant Protein for SPOP
    Cloud-Clone Corp. Proteins for SPOP 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0016607nuclear speck IEA--
    GO:0031463Cul3-RING ubiquitin ligase complex IDA--

    SPOP for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    BTBD: BTB/POZ domain containing

    5 InterPro protein domains:
     IPR008974 TRAF-like
     IPR002083 MATH
     IPR011333 BTB/POZ_fold
     IPR013069 BTB_POZ
     IPR000210 BTB/POZ-like

    Graphical View of Domain Structure for InterPro Entry O43791

    ProtoNet protein and cluster: O43791

    2 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB002083 Meprin/TRAF-like MATH


    UniProtKB/Swiss-Prot: SPOP_HUMAN, O43791
    Domain: The BTB (POZ) domain mediates dimerization and interaction with CUL3
    Domain: The MATH domain mediates interaction with protein-ubiquitin ligase substrates, such as H2AFY and BMI1
    Similarity: Belongs to the Tdpoz family
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 1 MATH domain


    SPOP 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: SPOP_HUMAN, O43791
    Function: Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates
    the ubiquitination of target proteins, leading most often to their proteasomal degradation. In complex with CUL3,
    involved in ubiquitination and proteasomal degradation of BRMS1, DAXX, PDX1/IPF1, GLI2 and GLI3. In complex with
    CUL3, involved in ubiquitination of H2AFY and BMI1; this does not lead to their proteasomal degradation. Inhibits
    transcriptional activation of PDX1/IPF1 targets, such as insulin, by promoting PDX1/IPF1 degradation. The
    cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex containing homodimeric SPOP has higher
    ubiquitin ligase activity than the complex that contains the heterodimer formed by SPOP and SPOPL

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16189514
    GO:0031625ubiquitin protein ligase binding IPI11279055
         
    SPOP for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SPOP:
     Decreased cell number  G0/1 arrest 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Spop):
     cellular  endocrine/exocrine gland  homeostasis/metabolism  mortality/aging 

    SPOP for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SPOP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SPOP

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

    miRNA
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    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate SPOP (see all 23):
    hsa-miR-302d hsa-miR-520e hsa-miR-539 hsa-miR-944 hsa-miR-302e hsa-miR-512-3p hsa-miR-3692 hsa-miR-520a-3p
    SwitchGear 3'UTR luciferase reporter plasmidSPOP 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPOP


    (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 SPOP About                                                                                                See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    mRNA processing0.46
    2Hedgehog signaling events mediated by Gli proteins
    Hedgehog signaling events mediated by Gli proteins


    2 BioSystems Pathways for SPOP
        mRNA processing
    Hedgehog signaling events mediated by Gli proteins



    UniProtKB/Swiss-Prot: SPOP_HUMAN, O43791
    Pathway: Protein modification; protein ubiquitination

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPOP

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

    5/44 Interacting proteins for SPOP (O437911, 2, 3 ENSP000002403274) via UniProtKB, MINT, STRING, and/or I2D (see all 44)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    RXRBP287022, 3, ENSP000003638124MINT-67766 I2D: score=5 STRING: ENSP00000363812
    ENSG00000206289P287022, 3MINT-67766 I2D: score=5 
    ENSG00000227322P287022, 3MINT-67766 I2D: score=5 
    ENSG00000228333P287022, 3MINT-67766 I2D: score=5 
    ENSG00000231321P287022, 3MINT-67766 I2D: score=5 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016567protein ubiquitination IEA--
    GO:0043161proteasomal ubiquitin-dependent protein catabolic process IMP--

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

    Browse Tocris compounds for SPOP

    Search CenterWatch for drugs/clinical trials and news about SPOP

    (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 SPOP gene (6 alternative transcripts): 
    NM_001007226.1  NM_001007227.1  NM_001007228.1  NM_001007229.1  NM_001007230.1  NM_003563.3  

    Unigene Cluster for SPOP:

    Speckle-type POZ protein
    Hs.740407  [show with all ESTs]
    Unigene Representative Sequence: AK125087
    18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000393328 ENST00000572686 ENST00000504102 ENST00000503676 ENST00000577134
    ENST00000507551 ENST00000504889 ENST00000509869 ENST00000509079 ENST00000505581
    ENST00000506399 ENST00000507970 ENST00000514121 ENST00000515508 ENST00000513080
    ENST00000504212 ENST00000510476 ENST00000508805
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPOP
    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate SPOP (see all 23):
    hsa-miR-302d hsa-miR-520e hsa-miR-539 hsa-miR-944 hsa-miR-302e hsa-miR-512-3p hsa-miR-3692 hsa-miR-520a-3p
    SwitchGear 3'UTR luciferase reporter plasmidSPOP 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPOP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPOP
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    Additional mRNA sequence: 

    AJ000644.1 AK123385.1 AK125087.1 AK222589.1 AK293045.1 AK293587.1 AK300616.1 AK303268.1 
    AK312691.1 AK316366.1 BC001269.1 BC003385.1 

    24/25 DOTS entries (see all 25):

    DT.120978981  DT.448401  DT.95227280  DT.92456693  DT.95227258  DT.97854871  DT.40265295  DT.92456692 
    DT.97854870  DT.100824392  DT.100824400  DT.120978997  DT.426759  DT.103866  DT.87079373  DT.100824391 
    DT.100824398  DT.205192  DT.100824386  DT.120978947  DT.120978950  DT.120978958  DT.120979033  DT.40257030 

    24/541 AceView cDNA sequences (see all 541):

    T31510 BE876686 BM794855 AU119722 AI128712 BP341964 H72657 AI206948 
    AI199330 AA333667 BI767250 CA307763 AI346965 BP356914 BM469658 CB142936 
    AA928574 BQ025597 AI969922 BQ477755 CD516512 BE903471 BE794609 BP358501 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for SPOP (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b
    SP1:                    -     -     -           -                                         -     -                             -     -                     
    SP2:              -     -     -     -           -                                         -     -                             -     -                     
    SP3:                                                                                                                                                      
    SP4:                                            -                                                                                                         
    SP5:                                -           -                                                                                                         


    ECgene alternative splicing isoforms for SPOP

    (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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.740407

    UniProtKB/Swiss-Prot: SPOP_HUMAN, O43791
    Tissue specificity: Widely expressed

        SABiosciences Expression via Pathway-Focused PCR Array including SPOP: 
              Ubiquitin Ligases in human mouse rat

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPOP
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPOP

    (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 eukaryotes.

    Orthologs for SPOP gene from 9/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spop1 , 5 speckle-type POZ protein1, 5 92.34(n)1
    100(a)1
      11 (59.01 cM)5
    207471  NM_025287.21  NP_079563.21 
     954140805 
    chicken
    (Gallus gallus)
    Aves SPOP1 speckle-type POZ protein 85.12(n)
    99.73(a)
      425528  XM_423281.3  XP_423281.2 
    lizard
    (Anolis carolinensis)
    Reptilia SPOP6
    Uncharacterized protein
    99(a)
    1 ↔ 1
    6(76707647-76754634)
    African clawed frog
    (Xenopus laevis)
    Amphibia cg9924-prov2 speckle-type POZ protein 81.99(n)    BC046272.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc641402 similar to speckle-type POZ protein 82.1(n)   394105  BC053276.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta rdx1 roadkill 68.37(n)
    80.11(a)
      41704  NM_142069.3  NP_650326.3 
    worm
    (Caenorhabditis elegans)
    Secernentea bath-431 Protein BATH-43 61.94(n)
    65.67(a)
      176422  NM_001027593.1  NP_001022764.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons BPM41 BTB/POZ and M4 domain-containing protein 45.8(n)
    35.31(a)
      821170  NM_111245.2  NP_566212.2 
    rice
    (Oryza sativa)
    Liliopsida Os07g01672001 hypothetical protein 46.3(n)
    36.84(a)
      4342491  NM_001065511.1  NP_001058976.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPOP gene
    KBTBD42  SPOPL2  
    4 SIMAP similar genes for SPOP using alignment to 11 protein entries:     SPOP_HUMAN (see all proteins):
    SPOPL    BTBD3    KLHL24    ZNF131

    SPOP 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

    10/1332 SNPs in SPOP are shown (see all 1332)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs667900161,2
    C--43115889(+) TTTCCATTTTTCTGT
    ATGTTTAAA
    /-
    ATTTT
    6 -- int11Minor allele frequency- -:0.50NA 2
    rs1828509981,2
    --47675912(+) AAACCA/GGGAAT 6 -- ds50010--------
    rs1889375351,2
    --47676088(+) AAAGGC/TAAAAA 6 -- ds50010--------
    rs1924731751,2
    --47676130(+) CTTCAA/GTATAT 6 -- ds50010--------
    rs744412811,2
    C,F--47676286(+) ATTTAT/CGTCCC 6 -- ut312Minor allele frequency- C:0.15CSA WA 120
    rs1167826991,2
    C,F--47676295(+) CCCTGG/CATCTT 6 -- ut311Minor allele frequency- C:0.03WA 118
    rs1453866801,2
    C--47676445(+) AGGGAA/GGACAA 6 -- ut310--------
    rs1831409471,2
    --47676708(+) TCCCCC/TGGAGG 6 -- ut310--------
    rs1128809991,2
    C--47676868(+) GTGTG-/T/TT  
            
    TTTTT
    12 -- ut311CSA 2
    rs113723311,2
    C--47676869(+) TTTTT-/T/TT  
            
    GTTTG
    12 -- ut31 trp31NA 2

    HapMap Linkage Disequilibrium report for SPOP (47676246 - 47755596 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SPOP: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SPOP
    DNA2.0 Custom Variant and Variant Library Synthesis for SPOP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602650    OMIM disorders: --

    4 diseases for SPOP:    About MalaCards
    mulibrey nanism    kidney cancer    scleroderma    breast cancer

    1 disease from the University of Copenhagen DISEASES database for SPOP:
    Mulibrey nanism

    SPOP for disorders           About GeneDecksing

    Genetic Association Database (GAD): SPOP
    Human Genome Epidemiology (HuGE) Navigator: SPOP (1 document)

    Export disorders for SPOP 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 SPOP gene, integrated from 9 sources (see all 47):
    (articles sorted by number of sources associating them with SPOP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel nuclear speckle-type protein, SPOP. (PubMed id 9414087)1, 2, 3, 9 Nagai Y.... Hagiwara M. (1997)
    2. BTB domain-containing speckle-type POZ protein (SPOP) serves as an adaptor of Daxx for ubiquitination by Cul3-based ubiquitin ligase. (PubMed id 16524876)1, 2, 9 Kwon J.E.... Chung C.H. (2006)
    3. Daxx-mediated transcriptional repression of MMP1 gene is reversed by SPOP. (PubMed id 15240113)1, 2, 9 La M....Joe C.O. (2004)
    4. Structures of SPOP-substrate complexes: insights into molecular architectures of BTB-Cul3 ubiquitin ligases. (PubMed id 19818708)1, 2, 9 Zhuang M....Schulman B.A. (2009)
    5. A hedgehog-induced BTB protein modulates hedgehog signaling by degrading Ci/Gli transcription factor. (PubMed id 16740475)1, 2, 9 Zhang Q.... Jiang J. (2006)
    6. Adaptor protein self-assembly drives the control of a cullin-RING ubiquitin ligase. (PubMed id 22632832)1, 2 Errington W.J....Prive G.G. (2012)
    7. Breast cancer metastasis suppressor 1 (BRMS1) is dest abilized by the Cul3-SPOP E3 ubiquitin ligase complex. (PubMed id 22085717)1, 2 Kim B....Kim J.H. (2011)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    9. Roadkill attenuates Hedgehog responses through degradation of Cubitus interruptus. (PubMed id 16651542)1, 2 Kent D.... Hooper J.E. (2006)
    10. Stable X chromosome inactivation involves the PRC1 Polycomb complex and requires histone MACROH2A1 and the CULLIN3/SPOP ubiquitin E3 ligase. (PubMed id 15897469)1, 2 Hernandez-Munoz I....van Lohuizen M. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 8405 HGNC: 11254 AceView: SPOP Ensembl:ENSG00000121067 euGenes: HUgn8405
    ECgene: SPOP H-InvDB: SPOP

    (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 SPOP 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 SPOP gene:
    Search GeneIP for patents involving SPOP

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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     Regulatory tfbs in SPOP promoter
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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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