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    SPOP speckle-type POZ protein [ Homo sapiens ]

    Gene ID: 8405, updated on 11-May-2012
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    Summary

    Official Symbol
    SPOPprovided by HGNC
    Official Full Name
    speckle-type POZ proteinprovided by HGNC
    Primary source
    HGNC:11254
    See related
    Ensembl:ENSG00000121067; HPRD:16004; MIM:602650; Vega:OTTHUMG00000161496
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TEF2
    Summary
    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]
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    Genomic context

    Location :
    17q21.33
    Sequence :
    Chromosome: 17; NC_000017.10 (47676246..47755525, complement)
    See SPOP in Epigenomics, MapViewer

    Chromosome 17 - NC_000017.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100288866 Neighboring gene nerve growth factor receptor Neighboring gene neurexophilin 3 Neighboring gene solute carrier family 35, member B1 Neighboring gene family with sequence similarity 117, member A

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Breast cancer metastasis suppressor 1 (BRMS1) is destabilized by the Cul3-SPOP E3 ubiquitin ligase complex. Kim B, et al. Biochem Biophys Res Commun, 2011 Dec 2. PMID 22085717.
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    3. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    4. Tumor-suppressor role for the SPOP ubiquitin ligase in signal-dependent proteolysis of the oncogenic co-activator SRC-3/AIB1. Li C, et al. Oncogene, 2011 Oct 20. PMID 21577200.
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.

    See all (36) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. These results suggest that the novel regulatory mechanism of BRMS1 by Cul3-SPOP complex is important for breast cancer progression.
      Title: Breast cancer metastasis suppressor 1 (BRMS1) is destabilized by the Cul3-SPOP E3 ubiquitin ligase complex.
    2. SPOP expression inhibited SRC-3-mediated oncogenic signaling and tumorigenesis.
      Title: Tumor-suppressor role for the SPOP ubiquitin ligase in signal-dependent proteolysis of the oncogenic co-activator SRC-3/AIB1.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. The study provides a molecular understanding of how SPOP and other MATH-BTB proteins recruit substrates to Cul3 and how their dimerization and conformational variability may facilitate avid interactions with diverse substrates.
      Title: Structures of SPOP-substrate complexes: insights into molecular architectures of BTB-Cul3 ubiquitin ligases.
    5. study found that SPOP plays a conserved role in TNF-mediated JNK signaling and was highly expressed in 99% of clear cell renal cell carcinomas
      Title: Analysis of Drosophila segmentation network identifies a JNK pathway factor overexpressed in kidney cancer.
    6. The study first proposes the proapoptotic aspect of the BTB/POZ domain of SPOP protein based on the finding that cells expressing the C-terminal fragment of SPOP containing the BTB/POZ domain underwent apoptosis.
      Title: BTB/POZ domain of speckle-type POZ protein (SPOP) confers proapoptotic function in HeLa cells.
    7. define a novel mechanism whereby the phosphoinositide phosphatidylinositol 5-phosphate leads to stimulation of Cul3-SPOP ubiquitin ligase activity
      Title: Coordinated activation of the nuclear ubiquitin ligase Cul3-SPOP by the generation of phosphatidylinositol 5-phosphate.
    8. SPOP/Cul3-ubiquitin ligase plays an essential role in the control of Daxx level and, thus, in the regulation of Daxx-mediated cellular processes, including transcriptional regulation and apoptosis
      Title: BTB domain-containing speckle-type POZ protein (SPOP) serves as an adaptor of Daxx for ubiquitination by Cul3-based ubiquitin ligase.
    9. Mutagenesis study suggests that the ability of SPOP to self-associate as well as its ability to bind with Daxx was important for the modulation of Daxx-mediated transcriptional repression.
      Title: Daxx-mediated transcriptional repression of MMP1 gene is reversed by SPOP.
    10. Here, we report that the E3 ubiquitin ligase consisting of SPOP and CULLIN3 is able to ubiquitinate the Polycomb group protein BMI1.
      Title: Stable X chromosome inactivation involves the PRC1 Polycomb complex and requires histone MACROH2A1 and the CULLIN3/SPOP ubiquitin E3 ligase.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    O43791 P35638 DDIT3    HPRD  PubMed  
    O43791 Q7Z7J5 DPPA2    HPRD  PubMed  
    O43791 O75367 H2AFY    HPRD  PubMed  
    O43791 DAP10 HCST    HPRD  PubMed  
    O43791 Q99836 MYD88    HPRD  PubMed  
    O43791 P52945 PDX1    HPRD  PubMed  
    O43791 O95197 RTN3    HPRD  PubMed  
    O43791 P28702 RXRB    HPRD  PubMed  
    O43791 Q13077 TRAF1    HPRD  PubMed  
    O43791 Q05516 ZBTB16    HPRD  PubMed  
    BioGRID:113993 BioGRID:106862 AR    BioGRID  PubMed Two-hybrid 
    BioGRID:113993 BioGRID:107116 BMI1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113993 BioGRID:114030 CUL3    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:113993 BioGRID:108016 DDIT3    BioGRID  PubMed Two-hybrid 
    BioGRID:113993 BioGRID:114508 DOK2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113993 BioGRID:127407 DPPA2    BioGRID  PubMed Two-hybrid 
    BioGRID:113993 BioGRID:108932 GDI1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113993 BioGRID:117163 KPNA6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113993 BioGRID:110700 MYD88    BioGRID  PubMed Two-hybrid 
    BioGRID:113993 BioGRID:113841 NCOA3    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex; Two-hybrid 
    BioGRID:113993 BioGRID:113984 PIP5K1B    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113993 BioGRID:115598 RTN3    BioGRID  PubMed Two-hybrid 
    BioGRID:113993 BioGRID:112169 RXRB    BioGRID  PubMed Two-hybrid 
    BioGRID:113993 BioGRID:116593 SIRT2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113993 BioGRID:113037 TRAF1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:113993 BioGRID:113041 TRAF6    BioGRID  PubMed Reconstituted Complex 
    BioGRID:113993 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113993 BioGRID:113498 ZBTB16    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the SPOP gene: The SPOP gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, A.thaliana, and rice.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    mRNA processing TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    speckle-type POZ protein
    Names
    speckle-type POZ protein
    HIB homolog 1
    roadkill homolog 1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001007226.1 → NP_001007227.1  speckle-type POZ protein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Transcript variants 1-6 encode the same protein.
      Source sequence(s)
      AK123385, AW449169, BC001269, BM693397, BQ226031, BX282325, W84567
      Consensus CDS
      CCDS11551.1
      UniProtKB/Swiss-Prot
      O43791
      Related
      ENSP00000377004, ENST00000393331
      Conserved Domains (2) summary
      cd03774
      Location:28 – 166
      Blast Score: 664
      MATH_SPOP; Speckle-type POZ protein (SPOP) family, MATH domain; composed of proteins with similarity to human SPOP. SPOP was isolated as a novel antigen recognized by serum from a scleroderma patient, whose overexpression in COS cells results in a discrete speckled ...
      cl02518
      Location:190 – 294
      Blast Score: 233
      BTB; BTB/POZ domain

    2. NM_001007227.1 → NP_001007228.1  speckle-type POZ protein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Transcript variants 1-6 encode the same protein.
      Source sequence(s)
      AK123385, AW449169, BC001269, BM693397, BQ226031, BX282325, W84567
      Consensus CDS
      CCDS11551.1
      UniProtKB/Swiss-Prot
      O43791
      Conserved Domains (2) summary
      cd03774
      Location:28 – 166
      Blast Score: 664
      MATH_SPOP; Speckle-type POZ protein (SPOP) family, MATH domain; composed of proteins with similarity to human SPOP. SPOP was isolated as a novel antigen recognized by serum from a scleroderma patient, whose overexpression in COS cells results in a discrete speckled ...
      cl02518
      Location:190 – 294
      Blast Score: 233
      BTB; BTB/POZ domain

    3. NM_001007228.1 → NP_001007229.1  speckle-type POZ protein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Transcript variants 1-6 encode the same protein.
      Source sequence(s)
      AK123385, AW449169, BC001269, BM693397, BQ226031, BX282325, W84567
      Consensus CDS
      CCDS11551.1
      UniProtKB/Swiss-Prot
      O43791
      Related
      ENSP00000425905, OTTHUMP00000220424, ENST00000504102, OTTHUMT00000365404
      Conserved Domains (2) summary
      cd03774
      Location:28 – 166
      Blast Score: 664
      MATH_SPOP; Speckle-type POZ protein (SPOP) family, MATH domain; composed of proteins with similarity to human SPOP. SPOP was isolated as a novel antigen recognized by serum from a scleroderma patient, whose overexpression in COS cells results in a discrete speckled ...
      cl02518
      Location:190 – 294
      Blast Score: 233
      BTB; BTB/POZ domain

    4. NM_001007229.1 → NP_001007230.1  speckle-type POZ protein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Transcript variants 1-6 encode the same protein.
      Source sequence(s)
      AK123385, AW449169, BC001269, BM693397, BQ226031, BX282325, CB992730, W84567
      Consensus CDS
      CCDS11551.1
      UniProtKB/Swiss-Prot
      O43791
      Related
      ENSP00000240327, ENST00000347630
      Conserved Domains (2) summary
      cd03774
      Location:28 – 166
      Blast Score: 664
      MATH_SPOP; Speckle-type POZ protein (SPOP) family, MATH domain; composed of proteins with similarity to human SPOP. SPOP was isolated as a novel antigen recognized by serum from a scleroderma patient, whose overexpression in COS cells results in a discrete speckled ...
      cl02518
      Location:190 – 294
      Blast Score: 233
      BTB; BTB/POZ domain

    5. NM_001007230.1 → NP_001007231.1  speckle-type POZ protein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Transcript variants 1-6 encode the same protein.
      Source sequence(s)
      AK123385, AW449169, BC001269, BM693397, BQ226031, BX282325, CB992730, W84567
      Consensus CDS
      CCDS11551.1
      UniProtKB/Swiss-Prot
      O43791
      Related
      ENSP00000426986, OTTHUMP00000220431, ENST00000509079, OTTHUMT00000365411
      Conserved Domains (2) summary
      cd03774
      Location:28 – 166
      Blast Score: 664
      MATH_SPOP; Speckle-type POZ protein (SPOP) family, MATH domain; composed of proteins with similarity to human SPOP. SPOP was isolated as a novel antigen recognized by serum from a scleroderma patient, whose overexpression in COS cells results in a discrete speckled ...
      cl02518
      Location:190 – 294
      Blast Score: 233
      BTB; BTB/POZ domain

    6. NM_003563.3 → NP_003554.1  speckle-type POZ protein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Transcript variants 1-6 encode the same protein.
      Source sequence(s)
      AK123385, AW449169, BC001269, BM693397, BQ226031, BX282325, W84567
      Consensus CDS
      CCDS11551.1
      UniProtKB/Swiss-Prot
      O43791
      Related
      ENSP00000377001, OTTHUMP00000220321, ENST00000393328, OTTHUMT00000365154
      Conserved Domains (2) summary
      cd03774
      Location:28 – 166
      Blast Score: 664
      MATH_SPOP; Speckle-type POZ protein (SPOP) family, MATH domain; composed of proteins with similarity to human SPOP. SPOP was isolated as a novel antigen recognized by serum from a scleroderma patient, whose overexpression in COS cells results in a discrete speckled ...
      cl02518
      Location:190 – 294
      Blast Score: 233
      BTB; BTB/POZ domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000017.10 Reference GRCh37.p5 Primary Assembly

      Range
      47676246..47755525, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000149.1 Alternate HuRef

      Range
      43041208..43120660, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC006487.9 (113218..186616) None
    genomic AC015795.20 (18813..24693) None
    genomic CH471109.2 EAW94671.1
      EAW94672.1
      EAW94673.1
      EAW94674.1
      EAW94675.1
    mRNA AJ000644.1 CAA04199.1
    mRNA AK123385.1 None
    mRNA AK222589.1 BAD96309.1
    mRNA AK293045.1 BAF85734.1
    mRNA AK293587.1 BAG57055.1
    mRNA AK300616.1 BAG62309.1
    mRNA AK303268.1 BAG64350.1
    mRNA AK312691.1 BAG35570.1
    mRNA AK316366.1 BAH14737.1
    mRNA AW449169.1 None
    mRNA BC001269.1 AAH01269.1
    mRNA BC003385.1 AAH03385.1
    mRNA BM693397.1 None
    mRNA BQ226031.1 None
    mRNA BX282325.1 None
    mRNA CB992730.1 None
    mRNA W84567.1 None
    other-genetic AM392588.1 CAL37466.1
    other-genetic AM392643.1 CAL37521.1
    other-genetic AM392731.1 CAL37609.1
    other-genetic AM393008.1 CAL37886.1
    other-genetic AM393567.1 CAL38444.1
    other-genetic AM393826.1 CAL38701.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43791.1 GenPept UniProtKB/Swiss-Prot:O43791
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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