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Aliases for SPOP Gene

Aliases for SPOP Gene

  • 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

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 POZ Protein) is a Protein Coding gene. Diseases associated with SPOP include mulibrey nanism. Among its related pathways are Hedgehog signaling events mediated by Gli proteins and mRNA Splicing - Major Pathway. GO annotations related to this gene include ubiquitin protein ligase binding. An important paralog of this gene is KBTBD4.

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

Genomic Location for SPOP Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SPOP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPOP Gene

Regulatory Elements 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

Proteomics data for SPOP Gene at MOPED

Post-translational modifications for SPOP Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys110, Lys279, and Lys339

No data available for DME Specific Peptides for SPOP Gene

Domains for SPOP Gene

Gene Families for SPOP Gene

HGNC:
  • BTBD :BTB/POZ domain containing

Protein Domains for SPOP Gene

UniProtKB/Swiss-Prot:

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

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for SPOP Gene 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 IDA 22085717
GO:0005654 nucleoplasm TAS --
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

Pathways for SPOP Gene

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

Pathways by source 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:0042593 glucose homeostasis IEA --
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IEA --
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IMP 22085717
GO:1902237 positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IEA --
GO:2000676 positive regulation of type B pancreatic cell apoptotic process IEA --
genes like me logo Genes that share ontologies with SPOP: view

Transcripts for SPOP Gene

Unigene Clusters for SPOP Gene

Speckle-type POZ protein:
Representative Sequences:

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 for SPOP Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SPOP Gene

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 expressions with SPOP: view

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 36
  • 99.64 (n)
  • 100 (a)
SPOP 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SPOP 36
  • 95.37 (n)
  • 100 (a)
SPOP 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPOP 36
  • 95.37 (n)
  • 100 (a)
SPOP 37
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm10696 37
  • 60 (a)
OneToMany
Gm10697 37
  • 57 (a)
OneToMany
Gm4778 37
  • 60 (a)
OneToMany
Gm4858 37
  • 61 (a)
OneToMany
Gm5286 37
  • 57 (a)
OneToMany
Gm5773 37
  • 58 (a)
OneToMany
Gm5852 37
  • 61 (a)
OneToMany
Gm9116 37
  • 61 (a)
OneToMany
Gm9117 37
  • 57 (a)
OneToMany
Gm9125 37
  • 57 (a)
OneToMany
Spop 36
  • 92.34 (n)
  • 100 (a)
Spop 16
Spop 37
  • 100 (a)
OneToMany
Tdpoz1 37
  • 56 (a)
OneToMany
Tdpoz2 37
  • 59 (a)
OneToMany
Tdpoz3 37
  • 55 (a)
OneToMany
Tdpoz4 37
  • 59 (a)
OneToMany
Tdpoz5 37
  • 57 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 93 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Spop 36
  • 92.34 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves SPOP 36
  • 85.12 (n)
  • 99.73 (a)
SPOP 37
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPOP 37
  • 99 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia cg9924-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75799 36
spop 36
  • 81.02 (n)
  • 98.66 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3393 36
zebrafish
(Danio rerio)
Actinopterygii spop 36
  • 81.91 (n)
  • 97.33 (a)
spop 37
  • 97 (a)
OneToOne
zgc64140 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003428 36
  • 69.72 (n)
  • 80.59 (a)
fruit fly
(Drosophila melanogaster)
Insecta rdx 36
  • 68.28 (n)
  • 79.84 (a)
rdx 37
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea bath-43 36
  • 61.94 (n)
  • 65.67 (a)
bath-43 37
  • 54 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons BPM4 36
  • 44 (n)
  • 33.72 (a)
rice
(Oryza sativa)
Liliopsida Os07g0167200 36
  • 45.47 (n)
  • 35.26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2083 37
  • 71 (a)
OneToMany
Species with no ortholog for SPOP:
  • 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 MAF
rs1054417 -- 49,658,654(-) TCTGT(C/T)CTGCC intron-variant
rs1061431 -- 49,599,620(-) CTTGA(C/T)AAGAA utr-variant-3-prime
rs1230060 -- 49,660,367(+) tgagg(C/T)cttcc intron-variant
rs1230061 -- 49,665,136(+) TCCCT(C/T)CCATT intron-variant
rs1230062 -- 49,665,479(+) gcgtg(G/T)tggca intron-variant

Relevant External Links for SPOP Gene

HapMap Linkage Disequilibrium report
SPOP
Human Gene Mutation Database (HGMD)
SPOP

No data available for Structural Variations from Database of Genomic Variants (DGV) for SPOP Gene

Disorders for SPOP Gene

(1) MalaCards Diseases for SPOP Gene

Search for SPOP Gene in MalaCards »

(1) University of Copenhagen DISEASES for SPOP Gene

Relevant External Links for SPOP

Genetic Association Database (GAD)
SPOP
Human Genome Epidemiology (HuGE) Navigator
SPOP
genes like me logo Genes that share disorders with SPOP: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. 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 23
  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 23
  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 23
  5. 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 23

Products for SPOP Gene

  • Addgene plasmids for SPOP

Sources for SPOP Gene

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