Overview

Location [1]
1q22
Protein [2]
Mucin-1 subunit beta
Synonyms [1]
MAM6, MUC-1/SEC, MCKD1, MUC1/ZD, "CA 15-3", KL-6, MUC-1/X, ADMCKD, PEM, PEMT, H23AG, ADMCKD1, MCKD, CD227, EMA, PUM, MUC-1, MCD

Mucin 1, cell surface associated (MUC1) is a gene that encodes a protein that functions in forming protective mucous barriers on epithelial surfaces. The protein is also important in intracellular signaling. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame deletions and insertions are observed in cancers such as bone cancer, intestinal cancer, and skin cancer.

MUC1 is altered in 0.12% of all cancers.

Significance of MUC1 in Diseases

Breast Carcinoma +

Non-Small Cell Lung Carcinoma +

Fallopian Tube Carcinoma +

Hepatocellular Carcinoma +

Ovarian Carcinoma +

Endometrial Endometrioid Adenocarcinoma +

Endometrial Serous Adenocarcinoma +

Multiple Myeloma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Primary Peritoneal Carcinoma +

Uterine Corpus Carcinosarcoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.