C11ORF30

Official Full Name

EMSY transcriptional repressor, BRCA2 interacting

Organism

Homo sapiens

GeneID

56946

Background

Predicted to enable identical protein binding activity. Predicted to be involved in DNA repair; chromatin organization; and regulation of DNA-templated transcription. Located in nucleoplasm. [provided by Alliance of Genome Resources, Feb 2025]

Synonyms

EMSY; GL002; C11orf30;

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Detailed Information

Recent Research Progress

The C11orf30 gene is located at chromosome 11q13.5, a locus that harbors several known and potential oncogenic drivers frequently amplified in breast cancer, most notably in the estrogen-receptor-positive (ER+) luminal subtype. C11orf30 showed silencing of breast cancer gene 2 (BRCA2) transcriptional activities and localization to repair sites following DNA damage. Although the precise cellular function of C11orf30 is still unknown, numerous lines of evidence suggest that C11orf30 plays a role in transcriptional regulation. In recent years, with the unremitting efforts of researchers, C11orf30 has made significant progress in the role of related diseases.

Amplification of the C11orf30 gene in breast cancer (BC) is a poor prognostic indicator

Breast cancer is the most common malignancy in women worldwide. C11orf30 has been implicated in DNA repair and transcriptional regulation. The interaction with BRCA2 correlates C11orf30 to DNA repair with the observation that C11orf30 localizes at DNA damage sites. Furthermore, overexpression of the truncated form of C11orf30 results in a chromosomal unstable phenotype in human mammary epithelial cells, similar to that of cells showing a loss of BRCA2 function. The binding of C11orf30 to the BRCA2 exon 3-encoding transcriptional activation domain represses the function of this domain. In addition, C11orf30 interacts with chromatin remodeling protein heterochromatin 1β (HP1β) and BS69. C11orf30 has been implicated in the regulation of nuclear receptor-mediated transcription, transcription of interferon-stimulated genes and BRCA2, and transcription of anti-metastatic microRNA miR-31. Emmanuelle et al. identified an inverse correlation between C11orf30 amplification and miR-31 expression (an anti-metastatic microRNA) in the METABRIC cohort of human breast samples. Re-expression of miR-31 greatly reduced cell migration, invasion and colony forming ability of cells overexpressing C11orf30 or impeding C11orf30 expansion. It shows that C11orf30 is recruited to the miR-31 promoter by the DNA binding factor ETS-1 (E-Twenty-Six-1), and it inhibits miR-31 transcription by delivering the H3K4me3 demethylase JARID1b / PLU-1 / KDM5B. Taken together, these results suggest the basis for the role of C11orf30 in breast cancer and reveal potential diagnostic and therapeutic targets for sporadic breast cancer.

C11orf30 and CCND1 work together to contribute to the pathogenesis of lung cancer

Lung cancer is the leading cause of cancer deaths. The main risk factor is smoking, but in addition to environmental factors, the risks are related to various genetic and epigenetic components. The increase in the gene copy numbers caused by chromosomal amplification constitutes a common mechanism for oncogene activation. A gene-dense region on chromosome 11q13 which harbors four core regions that are frequently amplified, has been associated with various types of cancer. The important cell cycle regulatory protein cyclin D1 (CCND1) is a significant driver of the first core region of the Chr11q13 amplicon. The deregulation of CCND1 has been associated with different types of human malignancies, including lung cancer. The C11orf30 gene has been proposed as a possible driver of the fourth core of the 11q13 amplicon. The study by Onur Baykara et al. showed that the expression of C11orf30 and CCND1 genes increased in 56 (65.8%) and 50 (58.8%) of the patients, respectively. Both genes showed higher expression in tumors than normal tissues. There was a strong correlation between the expression rates of the two genes. Patients with adenocarcinoma had higher levels of gene expression. Therefore, they believe that C11orf30 as a frequently amplified chromosome 11q13 region gene cooperates with CCND1 to contribute to the progression of lung cancer.

Locus C11orf30 increases susceptibility to multiple sensitizations

A number of genetic variants have been associated with allergic sensitization, but it is unclear whether these are allergen-specific or increased susceptibility to multi-sensitization. Recent studies have found that the 10 loci associate with sensitization to different allergens in a nonspecific manner and that one in particular, C11orf30-rs2155219, doubles the risk of multiple sensitivities. The association of rs2155219 with higher levels of C11orf30 expression, which may be involved in the transcription repression of interferon-stimulated genes, and its association with sensitivity to multiple allergens indicate that this locus is highly correlated with atopy. In recent years, it has been suggested that C11orf30 is a genetic risk factor for food allergies (FA), and extensive data support the idea that C11orf30 is associated with an allergic phenotype. Although the association of sensitization to foods with C11orf30-rs2155219 is not clear, the data were suggestive of an increasing risk with sensitization to an increasing number of food allergens.

In addition, some studies have shown that C11orf30 seems to play a major role in the development of ovarian cancer. In summary, C11orf30 not only relates to some cancers, but also increases the susceptibility to multiple sensitizations. At present, there is little data on the immunohistochemical analysis of C11orf30 protein expression in tumor tissues, and the association of C11orf30 with food allergy is not clear. Therefore, further research on C11orf30 and how it contributes to malignant progress is important for future work.

References:

Petar Jelinic, et al. The EMSY threonine 207 phospho-site is required for EMSY driven suppression of DNA damage repair. Oncotarget, 2017, 8: 13792-13804.
Onur Baykara, et al. The EMSY Gene Collaborates with CCND1 in Non-Small Cell Lung Carcinogenesis. International Journal of Medical Sciences, 2017, 14(7): 675-679 .
Kirsi M, et al. Germline EMSY sequence alterations in hereditary breast cancer and ovarian cancer families. BMC Cancer, 2017, 17:496.
Asai Y, et al. Genome-wide association study and meta-analysis in multiple populations identifies new loci for peanut allergy and establishes C11orf30/EMSY as a genetic risk factor for food allergy. Journal of Allergy And Clinical Immunology, 2018, 141(3): 991-1001.
A. F. S. Amara, et al. The locus C11orf30 increases susceptibility to poly-sensitization. Allergy, 2015, 70(30): 328-333.
Ingo Marenholz, et al. Genome-wide association study identifies the SERPINB gene cluster as a susceptibility locus for food allergy. Nature Communications, 2017, 8: 1056.
Vire E, et al. The Breast Cancer Oncogene EMSY Represses Transcription of Anti-metastatic microRNA miR-31. Molecular Cell, 2014, 53(5): 806-818.
Varier, RA, et al. Recruitment of the Mammalian Histone-modifying EMSY Complex to Target Genes Is Regulated by ZNF131. Journal of Biological Chemistry, 2016, 291(14): 7313-732.
Madjd Z, et al. Expression of EMSY, a Novel BRCA2-link Protein, is Associated with Lymph Node Metastasis and Increased Tumor Size in Breast Carcinomas. Asian Pacific Journal Of Cancer Prevention, 2014, 14(5): 1783-1789.

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