SPOP

Template:Cs1 config Template:Short description Template:Infobox gene Speckle-type POZ protein is a protein that in humans is encoded by the 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.

DNA repair

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

Clinical relevance

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

Further reading

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