EMSY

EMSY
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesEMSY, GL002, C11orf30, BRCA2 interacting transcriptional repressor
External IDsMGI: 1924203 HomoloGene: 32465 GeneCards: EMSY
Gene location (Human)
Chr.Chromosome 11 (human)[1]
Band11q13.5Start76,444,923 bp[1]
End76,553,025 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

56946

233545

Ensembl

ENSG00000158636

ENSMUSG00000035401

UniProt

Q7Z589

Q8BMB0

RefSeq (mRNA)

NM_001300942
NM_001300943
NM_001300944
NM_020193

NM_172280

RefSeq (protein)

NP_001287871
NP_001287872
NP_001287873
NP_064578

NP_758484

Location (UCSC)Chr 11: 76.44 – 76.55 MbChr 7: 98.59 – 98.66 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

EMSY is a protein that in humans is encoded by the EMSY gene.[5]

Clinical significance

EMSY has been shown to associate with atopy and susceptibility to poly-sensitisation.[6]

Interactions

EMSY has been shown to interact with ZMYND11,[7] BRCA2[7] and CBX1.[7]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000158636 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000035401 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ "Entrez Gene: C11orf30 chromosome 11 open reading frame 30".
  6. ↑ Amaral, A. F. S.; Minelli, C.; Guerra, S.; Wjst, M.; Probst-Hensch, N.; Pin, I.; Svanes, C.; Janson, C.; Heinrich, J.; Jarvis, D. L. (March 2015). "The locus C11orf30 increases susceptibility to poly-sensitization". Allergy. 70 (3): 328–333. doi:10.1111/all.12557. PMID 25546184.
  7. 1 2 3 Hughes-Davies L, Huntsman D, Ruas M, Fuks F, Bye J, Chin SF, Milner J, Brown LA, Hsu F, Gilks B, Nielsen T, Schulzer M, Chia S, Ragaz J, Cahn A, Linger L, Ozdag H, Cattaneo E, Jordanova ES, Schuuring E, Yu DS, Venkitaraman A, Ponder B, Doherty A, Aparicio S, Bentley D, Theillet C, Ponting CP, Caldas C, Kouzarides T (Nov 2003). "EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer". Cell. 115 (5): 523–35. doi:10.1016/S0092-8674(03)00930-9. PMID 14651845.

Further reading

  • Hughes-Davies L, Huntsman D, Ruas M, Fuks F, Bye J, Chin SF, Milner J, Brown LA, Hsu F, Gilks B, Nielsen T, Schulzer M, Chia S, Ragaz J, Cahn A, Linger L, Ozdag H, Cattaneo E, Jordanova ES, Schuuring E, Yu DS, Venkitaraman A, Ponder B, Doherty A, Aparicio S, Bentley D, Theillet C, Ponting CP, Caldas C, Kouzarides T (2003). "EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer". Cell. 115 (5): 523–35. doi:10.1016/S0092-8674(03)00930-9. PMID 14651845.
  • Bera TK, Das S, Maeda H, Beers R, Wolfgang CD, Kumar V, Hahn Y, Lee B, Pastan I (2004). "NGEP, a gene encoding a membrane protein detected only in prostate cancer and normal prostate". Proc. Natl. Acad. Sci. U.S.A. 101 (9): 3059–64. doi:10.1073/pnas.0308746101. PMC 365744. PMID 14981236.
  • Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
  • Ekblad CM, Chavali GB, Basu BP, Freund SM, Veprintsev D, Hughes-Davies L, Kouzarides T, Doherty AJ, Itzhaki LS (2005). "Binding of EMSY to HP1beta: implications for recruitment of HP1beta and BS69". EMBO Rep. 6 (7): 675–80. doi:10.1038/sj.embor.7400415. PMC 1369107. PMID 15947784.
  • Chavali GB, Ekblad CM, Basu BP, Brissett NC, Veprintsev D, Hughes-Davies L, Kouzarides T, Itzhaki LS, Doherty AJ (2005). "Crystal structure of the ENT domain of human EMSY". J. Mol. Biol. 350 (5): 964–73. doi:10.1016/j.jmb.2005.05.047. PMID 15978617.
  • Benusiglio PR, Lesueur F, Luccarini C, McIntosh J, Luben RN, Smith P, Dunning A, Easton DF, Ponder BA, Pharoah PD (2005). "Common variation in EMSY and risk of breast and ovarian cancer: a case-control study using HapMap tagging SNPs". BMC Cancer. 5: 81. doi:10.1186/1471-2407-5-81. PMC 1185523. PMID 16029503.
  • Raouf A, Brown L, Vrcelj N, To K, Kwok W, Huntsman D, Eaves CJ (2005). "Genomic instability of human mammary epithelial cells overexpressing a truncated form of EMSY". J. Natl. Cancer Inst. 97 (17): 1302–6. doi:10.1093/jnci/dji254. PMID 16145051.
  • Brown LA, Irving J, Parker R, Kim H, Press JZ, Longacre TA, Chia S, Magliocco A, Makretsov N, Gilks B, Pollack J, Huntsman D (2006). "Amplification of EMSY, a novel oncogene on 11q13, in high grade ovarian surface epithelial carcinomas". Gynecol. Oncol. 100 (2): 264–70. doi:10.1016/j.ygyno.2005.08.026. PMID 16236351.
  • Huang Y, Myers MP, Xu RM (2006). "Crystal structure of the HP1-EMSY complex reveals an unusual mode of HP1 binding". Structure. 14 (4): 703–12. doi:10.1016/j.str.2006.01.007. PMID 16615912.
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