Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SPOP contributors: mct/pgu - updated : 11-05-2017
HGNC name speckle-type POZ protein
HGNC id 11254
Corresponding disease
NEDMACE neurodevelopmental disorder with relative macrocephaly and other cardiac and endocrine anomalies
NEDMIDF neurodevelopmental disorder with microcephaly and dysmorphic facies
Location 17q21.33      Physical location : 47.676.247 - 47.755.525
Synonym name
  • Pdx1 C terminus-interacting factor-1
  • Roadkill homolog 1
  • HIB homolog 1
  • Synonym symbol(s) TEF2, PCIF1, BTBD32
    DNA
    TYPE functioning gene
    STRUCTURE 79.28 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2982 42 374 - 1997 9414087
    12 - 3105 42 374 - 1997 9414087
    11 - 3053 42 374 - 1997 9414087
    11 - 2983 42 374 - 1997 9414087
    12 - 3034 42 374 - 1997 9414087
    10 - 2931 42 374 - 1997 9414087
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal MATH domain
  • BTB/POZ domain that is important for the induction of apoptosis in transfected cells
  • a three-box domain
  • a C-terminal nuclear localization sequence
  • mono polymer dimer
    HOMOLOGY
    Homologene
    FAMILY
  • TD/POZ family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    basic FUNCTION
  • 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
  • essential role of SPOP in ESR1 ubiquitination by the Cullin3-based E3 ubiquitin ligase complex
  • nuclear protein that inhibits PDX1 transactivation
  • restoration of SPOP expression inhibited NCOA3-mediated oncogenic signaling and tumorigenesis, thus positioning SPOP as a tumor suppressor
  • is an adaptor protein that links BRMS1 to CUL3
  • promotes senescence, an important tumor suppression mechanism, by targeting the SENP7 deSUMOylase for degradation
  • is an important positive regulator of IHH signaling and skeletal development
  • regulates prostate epithelial cell proliferation and promotes ubiquitination and turnover of MYC oncoprotein
  • is a potential driver of prostate cancer development and progression
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • dimeric SPOP-CUL3 assembly involving a conserved helical structure C-terminal of BTB domains
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with SUFU and GLI1, GLI2, GLI3 (SUFU regulates GLI protein levels by antagonizing the activity of SPOP, a conserved GLI-degrading factor)
  • targets PDX1 for ubiquitination and proteasomal degradation
  • cullin 3 (CUL3)-based ubiquitin ligase, responsible for NCOA3 ubiquitination and proteolysis
  • CUL3, a component of E3 ubiquitin ligase, is a new binding partner of BRMS1 and the interaction between BRMS1 and CUL3 is mediated by the SPOP adaptor protein
  • DZIP1 regulates the stability of SPOP independent of its function in ciliogenesis
  • SPOP functions as a tumor suppressor to negatively regulate the stability of the ERG oncoprotein in prostate cancer
  • SPOP acts as a tumor suppressor by promoting senescence through degrading SENP7
  • targets GlI2 and GLI3 for degradation and negatively regulates Hedgehog (Hh) signaling
  • novel regulation of SIRT2 by SPOP mediated degradation, which is important for the growth of lung tumor cells
  • SPOP is a tumor suppressor to down-regulate EGLN2 in prostate cancer
  • acts as an adaptor protein of the CUL3-RBX1 E3 ubiquitin ligase complex that generally recruits substrates for ubiquitination and subsequent degradation
  • SPOP recognizes a Ser/Thr (S/T)-rich motif in the C-terminal region of INF2 and triggers atypical polyubiquitination of INF2
  • INF2 is important for SPOP inactivation-induced prostate cancer cell migration and invasion
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NEDMIDF , NEDMACE
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    frequently dysregulated in prostate adenocarcinoma (PC), via either somatic mutations or mRNA downregulation
    tumoral     --over  
    in clear cell renal cell carcinoma
    tumoral germinal mutation      
    mutation in SPOP that tracks with familial prostate cancer
    tumoral somatic mutation      
    in prostate cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • is a new marker and prognostic factor for clear cell RCC
  • Therapy target
    ANIMAL & CELL MODELS
  • defects in chondrocyte and osteoblast differentiation in Spop-null mutant mice