EMSY

Protein-coding gene in the species Homo sapiens

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)^[1]

Band	11q13.5	Start	76,444,923 bp^[1]
Band	11q13.5	End	76,553,025 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 7 (mouse)^[2]

Band	7\|7 E1	Start	98,236,344 bp^[2]
Band	7\|7 E1	End	98,305,990 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

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

BioGPS


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

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: 98.24 – 98.31 Mb

PubMed search

^[3]

^[4]

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.