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Aliases for SPOP Gene

Aliases for SPOP Gene

  • Speckle Type BTB/POZ Protein 2 3 5
  • Speckle-Type POZ Protein 2 3
  • Roadkill Homolog 1 3 4
  • HIB Homolog 1 3 4
  • BTBD32 3
  • TEF2 3

External Ids for SPOP Gene

Previous GeneCards Identifiers for SPOP Gene

  • GC17M047388
  • GC17M050157
  • GC17M048019
  • GC17M048152
  • GC17M045032
  • GC17M047676
  • GC17M043042

Summaries for SPOP Gene

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 BTB/POZ Protein) is a Protein Coding gene. Among its related pathways are Signaling by Hedgehog and mRNA Splicing - Major Pathway. GO annotations related to this gene include ubiquitin protein ligase binding and RNA polymerase II transcription factor binding. An important paralog of this gene is SPOPL.

UniProtKB/Swiss-Prot for SPOP Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPOP Gene

Genomics for SPOP Gene

Regulatory Elements for SPOP Gene

Enhancers for SPOP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F049726 1 Ensembl ENCODE 16.7 -51.0 -50977 5.1 BCOR NR2F1 ZMYM3 DPF2 RAD21 NR2F2 YY1 ARID1B POLR2A SMARCA4 SPOP SLC35B1 ENSG00000250751 FLJ45513 TAC4 FAM117A KAT7 ENSG00000235183 DLX3 ENSG00000248172
GH17F049850 1.6 FANTOM5 Ensembl ENCODE 9.8 -173.3 -173301 1.9 HDGF ARID4B SIN3A GLI4 DMAP1 ZNF48 ZNF2 ZNF121 GTF3C2 GLIS2 ENSG00000262837 DLX3 ENSG00000248172 FLJ45513 SLC35B1 ENSG00000250310 NXPH3 LOC100288866 SPOP FAM117A
GH17F049758 1.4 VISTA ENCODE 10.5 -83.7 -83716 6.4 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ENSG00000262837 FLJ45513 COL1A1 SLC35B1 FAM117A SPOP CACNA1G-AS1 SNF8 NXPH3 GC17P049768
GH17F049645 1.1 Ensembl ENCODE 11.6 +31.4 31398 3.5 INSM2 SIN3A FEZF1 ZBTB40 ZNF121 SCRT2 FOS EGR2 ZNF362 MIER1 FLJ45513 SPOP LOC100288866 NXPH3 GC17P049596
GH17F049453 1.2 Ensembl ENCODE 10.1 +223.9 223880 1.0 HDGF PKNOX1 CREB3L1 ARID4B SIN3A GLIS2 SP3 SP5 TBX21 GLIS1 ENSG00000207127 PHB NGFR ENSG00000250186 RPL21P124 SPOP DLX3 ENSG00000248172 LINC02075 EIF4EP2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPOP on UCSC Golden Path with GeneCards custom track

Promoters for SPOP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001536489 834 2401 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A YBX1 DMAP1

Genomic Location for SPOP Gene

Chromosome:
17
Start:
49,598,884 bp from pter
End:
49,678,234 bp from pter
Size:
79,351 bases
Orientation:
Minus strand

Genomic View for SPOP Gene

Genes around SPOP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPOP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPOP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPOP Gene

Proteins for SPOP Gene

  • Protein details for SPOP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43791-SPOP_HUMAN
    Recommended name:
    Speckle-type POZ protein
    Protein Accession:
    O43791
    Secondary Accessions:
    • B2R6S3
    • D3DTW7
    • Q53HJ1

    Protein attributes for SPOP Gene

    Size:
    374 amino acids
    Molecular mass:
    42132 Da
    Quaternary structure:
    • 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.
    Miscellaneous:
    • Antigen recognized by serum from scleroderma patient.

    Three dimensional structures from OCA and Proteopedia for SPOP Gene

neXtProt entry for SPOP Gene

Post-translational modifications for SPOP Gene

  • Ubiquitination at Lys 110, Lys 279, and Lys 339
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for SPOP
  • Santa Cruz Biotechnology (SCBT) Antibodies for SPOP

No data available for DME Specific Peptides for SPOP Gene

Domains & Families for SPOP Gene

Gene Families for SPOP Gene

Protein Domains for SPOP Gene

Suggested Antigen Peptide Sequences for SPOP Gene

Graphical View of Domain Structure for InterPro Entry

O43791

UniProtKB/Swiss-Prot:

SPOP_HUMAN :
  • The BTB (POZ) domain mediates dimerization and interaction with CUL3.
  • Belongs to the Tdpoz family.
Domain:
  • The BTB (POZ) domain mediates dimerization and interaction with CUL3.
  • The MATH domain mediates interaction with protein-ubiquitin ligase substrates, such as H2AFY and BMI1.
  • Contains 1 BTB (POZ) domain.
  • Contains 1 MATH domain.
Family:
  • Belongs to the Tdpoz family.
genes like me logo Genes that share domains with SPOP: view

Function for SPOP Gene

Molecular function for SPOP Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for SPOP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001085 RNA polymerase II transcription factor binding IEA --
GO:0005515 protein binding IPI 16189514
GO:0031625 ubiquitin protein ligase binding IPI 11279055
genes like me logo Genes that share ontologies with SPOP: view
genes like me logo Genes that share phenotypes with SPOP: view

Animal Models for SPOP Gene

MGI Knock Outs for SPOP:
  • Spop tm1b(KOMP)Wtsi

Animal Model Products

miRNA for SPOP Gene

miRTarBase miRNAs that target SPOP

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPOP Gene

Localization for SPOP Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPOP Gene

Nucleus. Nucleus speckle.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPOP gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for SPOP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 22085717
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA --
GO:0016607 nuclear speck IEA --
GO:0019005 SCF ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with SPOP: view

Pathways & Interactions for SPOP Gene

genes like me logo Genes that share pathways with SPOP: view

Pathways by source for SPOP Gene

1 KEGG pathway for SPOP Gene

UniProtKB/Swiss-Prot O43791-SPOP_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for SPOP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0016567 protein ubiquitination IEA --
GO:0030162 regulation of proteolysis IBA --
GO:0042593 glucose homeostasis IEA --
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with SPOP: view

No data available for SIGNOR curated interactions for SPOP Gene

Transcripts for SPOP Gene

Unigene Clusters for SPOP Gene

Speckle-type POZ protein:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPOP Gene

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: - -
SP6:
SP7: - - - -
SP8:

Relevant External Links for SPOP Gene

GeneLoc Exon Structure for
SPOP
ECgene alternative splicing isoforms for
SPOP

Expression for SPOP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPOP Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SPOP Gene



NURSA nuclear receptor signaling pathways regulating expression of SPOP Gene:

SPOP

SOURCE GeneReport for Unigene cluster for SPOP Gene:

Hs.740407

mRNA Expression by UniProt/SwissProt for SPOP Gene:

O43791-SPOP_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with SPOP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Protein tissue co-expression partners for SPOP Gene

Orthologs for SPOP Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SPOP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPOP 34 35
  • 99.64 (n)
cow
(Bos Taurus)
Mammalia SPOP 34 35
  • 95.37 (n)
dog
(Canis familiaris)
Mammalia SPOP 34 35
  • 95.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 93 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Spop 34 16 35
  • 92.34 (n)
Gm4858 35
  • 61 (a)
OneToMany
Gm5852 35
  • 61 (a)
OneToMany
Gm9116 35
  • 61 (a)
OneToMany
Gm10696 35
  • 60 (a)
OneToMany
Gm4778 35
  • 60 (a)
OneToMany
Tdpoz2 35
  • 59 (a)
OneToMany
Tdpoz4 35
  • 59 (a)
OneToMany
Gm5773 35
  • 58 (a)
OneToMany
Gm10697 35
  • 57 (a)
OneToMany
Gm5286 35
  • 57 (a)
OneToMany
Gm9117 35
  • 57 (a)
OneToMany
Gm9125 35
  • 57 (a)
OneToMany
Tdpoz5 35
  • 57 (a)
OneToMany
Tdpoz1 35
  • 56 (a)
OneToMany
Tdpoz3 35
  • 55 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Spop 34
  • 92.34 (n)
chicken
(Gallus gallus)
Aves SPOP 34 35
  • 85.12 (n)
lizard
(Anolis carolinensis)
Reptilia SPOP 35
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spop 34
  • 81.02 (n)
MGC75799 34
African clawed frog
(Xenopus laevis)
Amphibia cg9924-prov 34
zebrafish
(Danio rerio)
Actinopterygii spop 34 35
  • 81.91 (n)
zgc64140 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3393 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003428 34
  • 69.72 (n)
fruit fly
(Drosophila melanogaster)
Insecta rdx 34 35
  • 68.28 (n)
worm
(Caenorhabditis elegans)
Secernentea bath-43 34 35
  • 61.94 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons BPM4 34
  • 44 (n)
rice
(Oryza sativa)
Liliopsida Os07g0167200 34
  • 45.47 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2083 35
  • 71 (a)
OneToMany
Species where no ortholog for SPOP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SPOP Gene

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

Paralogs for SPOP Gene

Paralogs for SPOP Gene

genes like me logo Genes that share paralogs with SPOP: view

Variants for SPOP Gene

Sequence variations from dbSNP and Humsavar for SPOP Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs193921065 Uncertain significance 49,619,062(-) GGATT(C/G)AAGAA upstream-variant-2KB, reference, missense
rs727502792 Uncertain significance 49,601,958(-) CAGTA(A/T)CCTGT reference, missense
rs193920894 other 49,619,281(-) AAAAT(G/T)CAAAT upstream-variant-2KB, reference, missense
rs10438783 -- 49,614,450(+) agaca(C/T)acaAA intron-variant
rs10514970 -- 49,611,164(+) AGCTG(C/T)AGTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPOP Gene

Variant ID Type Subtype PubMed ID
nsv473294 CNV novel sequence insertion 20440878
nsv475510 CNV novel sequence insertion 20440878

Variation tolerance for SPOP Gene

Residual Variation Intolerance Score: 26.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.83; 17.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPOP Gene

Human Gene Mutation Database (HGMD)
SPOP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPOP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPOP Gene

Disorders for SPOP Gene

Relevant External Links for SPOP

Genetic Association Database (GAD)
SPOP
Human Genome Epidemiology (HuGE) Navigator
SPOP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPOP

No disorders were found for SPOP Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPOP Gene

Publications for SPOP Gene

  1. Identification of a novel nuclear speckle-type protein, SPOP. (PMID: 9414087) Nagai Y. … Hagiwara M. (FEBS Lett. 1997) 2 3 4 22 64
  2. Structures of SPOP-substrate complexes: insights into molecular architectures of BTB-Cul3 ubiquitin ligases. (PMID: 19818708) Zhuang M. … Schulman B.A. (Mol. Cell 2009) 3 4 22 64
  3. BTB domain-containing speckle-type POZ protein (SPOP) serves as an adaptor of Daxx for ubiquitination by Cul3-based ubiquitin ligase. (PMID: 16524876) Kwon J.E. … Chung C.H. (J. Biol. Chem. 2006) 3 4 22 64
  4. A hedgehog-induced BTB protein modulates hedgehog signaling by degrading Ci/Gli transcription factor. (PMID: 16740475) Zhang Q. … Jiang J. (Dev. Cell 2006) 3 4 22 64
  5. Daxx-mediated transcriptional repression of MMP1 gene is reversed by SPOP. (PMID: 15240113) La M. … Joe C.O. (Biochem. Biophys. Res. Commun. 2004) 3 4 22 64

Products for SPOP Gene

Sources for SPOP Gene

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