C11orf30

Chromosome 11 open reading frame 30
PDB rendering based on 1utu.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1UTU​, 1UZ3​, 2FMM​
Identifiers
Symbols	C11orf30 ; EMSY; GL002
External IDs	OMIM: 608574 MGI: 1924203 HomoloGene: 32465 GeneCards: C11orf30 Gene
Gene ontology Molecular function • protein binding • protein homodimerization activity Cellular component • nucleoplasm Biological process • DNA repair • transcription, DNA-templated • regulation of transcription, DNA-templated • chromatin modification Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	56946	233545
Ensembl	ENSG00000158636	ENSMUSG00000035401
UniProt	Q7Z589	Q8BMB0
RefSeq (mRNA)	NM_001300942	NM_172280
RefSeq (protein)	NP_001287871	NP_758484
Location (UCSC)	Chr 11: 76.44 – 76.55 Mb	Chr 7: 98.59 – 98.66 Mb
PubMed search

Protein EMSY is a protein that in humans is encoded by the C11orf30 gene.^[1]

Clinical significance

C11orf30 has been shown to associate with atopy and susceptibility to poly-sensitisation.^[2]

Interactions

C11orf30 has been shown to interact with ZMYND11,^[3] BRCA2^[3] and CBX1.^[3]

References

1. "Entrez Gene: C11orf30 chromosome 11 open reading frame 30".
2. 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.
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.