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.... See more...

Aliases for SPOP Gene

Aliases for SPOP Gene

  • Speckle Type BTB/POZ Protein 2 3 5
  • Speckle-Type POZ Protein 2 3 4
  • 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. Diseases associated with SPOP include Uterine Body Mixed Cancer and Ovarian Carcinosarcoma. Among its related pathways are Hedgehog signaling events mediated by Gli proteins and Signaling by GPCR. Gene Ontology (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 Summary 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

Additional gene information for SPOP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPOP Gene

Genomics for SPOP Gene

GeneHancer (GH) Regulatory Elements for SPOP Gene

Promoters and enhancers for SPOP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPOP on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPOP

Top Transcription factor binding sites by QIAGEN in the SPOP gene promoter:
  • AREB6
  • CREB
  • deltaCREB
  • GATA-3
  • Hlf
  • NF-1
  • NF-1/L
  • POU2F1
  • POU2F1a

Genomic Locations for SPOP Gene

Genomic Locations for SPOP Gene
chr17:49,598,884-49,678,163
(GRCh38/hg38)
Size:
79,280 bases
Orientation:
Minus strand
chr17:47,676,246-47,755,596
(GRCh37/hg19)
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 Lys110, Lys279, and Lys339
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SPOP Gene

Domains & Families for SPOP Gene

Gene Families for SPOP Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for SPOP Gene

Blocks:
  • BTB/POZ domain
  • Meprin/TRAF-like MATH
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPOP Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79265, highly similar to Speckle-type POZ protein (B4DUE7_HUMAN)
  • Roadkill homolog 1 (SPOP_HUMAN)

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.
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.

Phenotypes From GWAS Catalog for SPOP Gene

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 Spop<tm1b(KOMP)Wtsi>
  • Spop Spop<tm1a(KOMP)Mbp>
  • Spop Spop<tm1d(KOMP)Mbp>

Animal Model Products

CRISPR Products

miRNA for SPOP Gene

miRTarBase miRNAs that target SPOP

Clone Products

  • Addgene plasmids for SPOP

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 3
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SPOP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,IDA 22085717
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA 21873635
GO:0016607 nuclear speck IEA --
GO:0031463 Cul3-RING ubiquitin ligase complex IDA 22085717
genes like me logo Genes that share ontologies with SPOP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPOP Gene

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.

SIGNOR curated interactions for SPOP Gene

Inactivates:

Gene Ontology (GO) - Biological Process for SPOP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IBA 21873635
GO:0016567 protein ubiquitination IEA --
GO:0030162 regulation of proteolysis IBA 21873635
GO:0042593 glucose homeostasis IEA --
genes like me logo Genes that share ontologies with SPOP: view

Drugs & Compounds for SPOP Gene

No Compound Related Data Available

Transcripts for SPOP Gene

mRNA/cDNA for SPOP Gene

9 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
25 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for SPOP

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

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, MaxQB, and MOPED for SPOP Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for SPOP Gene

  • Nervous system(4.6)
  • Lung(2.9)
  • Kidney(2.7)
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 , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SPOP 31 30
  • 95.37 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SPOP 31 30
  • 95.37 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 93 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Spop 17 31 30
  • 92.34 (n)
Gm9116 31
  • 61 (a)
OneToMany
Gm4858 31
  • 61 (a)
OneToMany
Gm5852 31
  • 61 (a)
OneToMany
Gm4778 31
  • 60 (a)
OneToMany
Gm10696 31
  • 60 (a)
OneToMany
Tdpoz4 31
  • 59 (a)
OneToMany
Tdpoz2 31
  • 59 (a)
OneToMany
Gm5773 31
  • 58 (a)
OneToMany
Gm9125 31
  • 57 (a)
OneToMany
Gm10697 31
  • 57 (a)
OneToMany
Gm5286 31
  • 57 (a)
OneToMany
Gm9117 31
  • 57 (a)
OneToMany
Tdpoz5 31
  • 57 (a)
OneToMany
Tdpoz1 31
  • 56 (a)
OneToMany
Tdpoz3 31
  • 55 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Spop 30
  • 92.34 (n)
chicken
(Gallus gallus)
Aves SPOP 31 30
  • 85.12 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPOP 31
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spop 30
  • 81.02 (n)
MGC75799 30
African clawed frog
(Xenopus laevis)
Amphibia cg9924-prov 30
zebrafish
(Danio rerio)
Actinopterygii spop 31 30
  • 81.91 (n)
OneToOne
zgc64140 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3393 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003428 30
  • 69.72 (n)
fruit fly
(Drosophila melanogaster)
Insecta rdx 31 30
  • 68.28 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea bath-43 31 30
  • 61.94 (n)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons BPM4 30
  • 44 (n)
rice
(Oryza sativa)
Liliopsida Os07g0167200 30
  • 45.47 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2083 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SPOP: view image

Paralogs for SPOP Gene

Paralogs for SPOP Gene

(4) SIMAP similar genes for SPOP Gene using alignment to 11 proteins:

  • SPOP_HUMAN
  • D6RA79_HUMAN
  • D6RBH6_HUMAN
  • D6RBR3_HUMAN
  • D6RD94_HUMAN
  • D6RDG8_HUMAN
  • D6RDV6_HUMAN
  • D6RFL7_HUMAN
  • D6RGZ4_HUMAN
  • D6RIS7_HUMAN
  • H0Y977_HUMAN
genes like me logo Genes that share paralogs with SPOP: view

Variants for SPOP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPOP Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs1057519964 Likely Pathogenic: Adenocarcinoma of prostate 49,619,282(-) A/C MISSENSE_VARIANT
rs1057519965 Likely Pathogenic: Adenocarcinoma of prostate 49,619,280(-) G/C MISSENSE_VARIANT
rs1057519966 Likely Pathogenic: Adenocarcinoma of prostate. Likely Pathogenic: Adenocarcinoma of prostate 49,619,064(-) A/CA/T MISSENSE_VARIANT
rs1057519967 Likely Pathogenic: Adenocarcinoma of prostate. Likely Pathogenic: Adenocarcinoma of prostate 49,619,063(-) A/CA/G MISSENSE_VARIANT
rs1057519968 Likely Pathogenic: Adenocarcinoma of prostate; Malignant neoplasm of body of uterus. Likely Pathogenic: Adenocarcinoma of prostate; Malignant neoplasm of body of uterus 49,619,070(-) A/CA/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SPOP Gene

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)

Additional Variant Information for SPOP Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for SPOP Gene

MalaCards: The human disease database

(6) MalaCards diseases for SPOP Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
uterine body mixed cancer
  • malignant mixed tumor of corpus uteri
ovarian carcinosarcoma
  • ovarian malignant mesodermal mixed tumor
suppression of tumorigenicity 12
  • st12
kidney cancer
  • renal cell carcinoma
prostate cancer
  • prostate cancer, somatic
- elite association - COSMIC cancer census association via MalaCards
Search SPOP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SPOP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SPOP: view

No data available for 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 letters 1997) 2 3 4 23 54
  2. Structures of SPOP-substrate complexes: insights into molecular architectures of BTB-Cul3 ubiquitin ligases. (PMID: 19818708) Zhuang M … Schulman BA (Molecular cell 2009) 3 4 23 54
  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 JE … Chung CH (The Journal of biological chemistry 2006) 3 4 23 54
  4. A hedgehog-induced BTB protein modulates hedgehog signaling by degrading Ci/Gli transcription factor. (PMID: 16740475) Zhang Q … Jiang J (Developmental cell 2006) 3 4 23 54
  5. Daxx-mediated transcriptional repression of MMP1 gene is reversed by SPOP. (PMID: 15240113) La M … Joe CO (Biochemical and biophysical research communications 2004) 3 4 23 54

Products for SPOP Gene