EMSY

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

EMSY
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1UTU, 1UZ3, 2FMM
Identifiers
Aliases	EMSY, GL002, C11orf30, BRCA2 interacting transcriptional repressor, EMSY transcriptional repressor, BRCA2 interacting
External IDs	OMIM: 608574 MGI: 1924203 HomoloGene: 32465 GeneCards: EMSY
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q13.5 Start 76,444,923 bp[1] End 76,553,025 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 E1 Start 98,587,137 bp[2] End 98,656,783 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding • protein homodimerization activity Cellular component • cell nucleus • nucleoplasm Biological process • regulation of transcription, DNA-templated • DNA repair • transcription, DNA-templated • cellular response to DNA damage stimulus • chromatin organization Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	56946	233545
Ensembl	ENSG00000158636	ENSMUSG00000035401
UniProt	Q7Z589	Q8BMB0
RefSeq (mRNA)	NM_001300942 NM_001300943 NM_001300944 NM_020193	NM_172280 NM_001381867 NM_001381868 NM_001381869 NM_001381870
RefSeq (protein)	NP_001287871 NP_001287872 NP_001287873 NP_064578	NP_758484 NP_001368796 NP_001368797 NP_001368798 NP_001368799
Location (UCSC)	Chr 11: 76.44 – 76.55 Mb	Chr 7: 98.59 – 98.66 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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. GRCh38: Ensembl release 89: ENSG00000158636 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000035401 - 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. "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. hdl:10044/1/21574. PMID 25546184.
7. 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.

External links

• Human C11orf30 genome location and C11orf30 gene details page in the UCSC Genome Browser.

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.