SPOP

Protein-coding gene in humans From Wikipedia, the free encyclopedia

SPOP

Speckle-type POZ protein is a protein that in humans is encoded by the SPOP gene.[5][6][7]

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SPOP
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Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSPOP, BTBD32, TEF2, speckle type BTB/POZ protein, NEDMIDF, NSDVS1, NSDVS2, NEDMACE
External IDsOMIM: 602650; MGI: 1343085; HomoloGene: 68354; GeneCards: SPOP; OMA:SPOP - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_025287
NM_001359107

RefSeq (protein)

NP_079563
NP_001346036

Location (UCSC)Chr 17: 49.6 – 49.68 MbChr 11: 95.3 – 95.38 Mb
PubMed search[3][4]
Wikidata
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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.[7]

DNA repair

The spop gene is the gene most commonly point mutated in human primary prostate cancers.[8] SPOP protein is essential for the repair of DNA-protein crosslinks by removing topoisomerase 2A from the topoisomerase2A-DNA cleavage complex formed during repair.[8]

Clinical relevance

Mutations in SPOP lead to a type of prostate tumor thought to be involved in about 15% of all prostate cancers.[9][10]

References

Further reading

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