C11ORF30

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; OMA: EMSY - orthologs
Gene location ( Human)
Chr.	Chromosome 11 (human)
End	76,553,025 bp
Gene location ( Mouse)
Chr.	Chromosome 7 (mouse)
End	98,305,990 bp
RNA expression pattern
	Top expressed in
	ventricular zone; ; Achilles tendon; ; ganglionic eminence; ; corpus callosum; ; cartilage tissue; ; epithelium of colon; ; right uterine tube; ; endothelial cell; ; right hemisphere of cerebellum; ; left ovary;
	Top expressed in
	tail of embryo; ; genital tubercle; ; zygote; ; secondary oocyte; ; Rostral migratory stream; ; neural layer of retina; ; ganglionic eminence; ; internal carotid artery; ; superior frontal gyrus; ; vas deferens;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding; protein homodimerization activity;
Cellular component	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
	56946
	233545
	ENSG00000158636
	ENSMUSG00000035401
	Q7Z589
	Q8BMB0
	NM_001300942; NM_001300943; NM_001300944; NM_020193
	NM_172280; NM_001381867; NM_001381868; NM_001381869; NM_001381870
	NP_001287871; NP_001287872; NP_001287873; NP_064578
	NP_758484; NP_001368796; NP_001368797; NP_001368798; NP_001368799
	Wikidata
View/Edit Human	View/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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000158636 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000035401 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: C11orf30 chromosome 11 open reading frame 30".
^ 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. S2CID 25960081.
^ ^a ^b ^c 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. S2CID 18911371.

External links

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

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. S2CID 18911371.
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. Bibcode: 2004PNAS..101.3059B. 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. Bibcode: 2004PNAS..10112130B. 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.

This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000158636 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-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. S2CID 25960081.

[pmid14651845-7] 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. S2CID 18911371.

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Clinical significance

Interactions

References

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