SPOP

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SPOP
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
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
View/Edit HumanView/Edit Mouse

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

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]

Clinical relevance

Mutations in SPOP lead to a type of prostate tumor thought to be involved in about 15% of all prostate cancers.[8][9]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000121067 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000057522 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Nagai Y, Kojima T, Muro Y, Hachiya T, Nishizawa Y, Wakabayashi T, Hagiwara M (Nov 1997). "Identification of a novel nuclear speckle-type protein, SPOP". FEBS Letters. 418 (1–2): 23–6. doi:10.1016/S0014-5793(97)01340-9. PMID 9414087. S2CID 32204506.
  6. ^ Zapata JM, Pawlowski K, Haas E, Ware CF, Godzik A, Reed JC (Jun 2001). "A diverse family of proteins containing tumor necrosis factor receptor-associated factor domains". The Journal of Biological Chemistry. 276 (26): 24242–52. doi:10.1074/jbc.M100354200. PMID 11279055.
  7. ^ a b "Entrez Gene: SPOP speckle-type POZ protein".
  8. ^ Heidi Evans (20 May 2012). "Scientists find new type of prostate cancer - discovery may lead to tailored treatments". New York Daily News. Retrieved 20 May 2012.
  9. ^ Barbieri CE, Baca SC, Lawrence MS, Demichelis F, Blattner M, Theurillat JP, White TA, Stojanov P, Van Allen E, Stransky N, Nickerson E, Chae SS, Boysen G, Auclair D, Onofrio RC, Park K, Kitabayashi N, MacDonald TY, Sheikh K, Vuong T, Guiducci C, Cibulskis K, Sivachenko A, Carter SL, Saksena G, Voet D, Hussain WM, Ramos AH, Winckler W, Redman MC, Ardlie K, Tewari AK, Mosquera JM, Rupp N, Wild PJ, Moch H, Morrissey C, Nelson PS, Kantoff PW, Gabriel SB, Golub TR, Meyerson M, Lander ES, Getz G, Rubin MA, Garraway LA (Jun 2012). "Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer". Nature Genetics. 44 (6): 685–9. doi:10.1038/ng.2279. PMC 3673022. PMID 22610119.

Further reading