Biomarker: MUC1

Histology type: benign tumor

Country: Greece

Region: Alexandroupolis

Followed up time :

Conclusion: Episialin/MUC1 is an integral component of the normal premenopausal endometrium and is probably hormonally regulated. It is frequently expressed in endometrial hyperplasias and carcinomas. The loss of MUC1 expression from endometrial carcinomas is associated with a favourable prognosis.

Sample type : tissue

Sample method: immunohistochemistry

Expression pattern : Loss expression

Expression elevation: Positivity was indicated as a distinct brown nuclear staining. A cytoplasmic or apical membrane staining for MUC1. Episialin/MUC1 was studied for patterns of immunoreactivity.

Funtion Uniprot: The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack. The beta subunit contains a C-terminal domain which is involved in cell signaling, through phosphorylations and protein-protein interactions. Modulates signaling in ERK, SRC and NF-kappa-B pathways. In activated T-cells, influences directly or indirectly the Ras/MAPK pathway. Promotes tumor progression. Regulates TP53-mediated transcription and determines cell fate in the genotoxic stress response. Binds, together with KLF4, the PE21 promoter element of TP53 and represses TP53 activity.

UniProt ID: P15941

UniProt Link: https://www.uniprot.org/uniprotkb/P15941/entry

Molecular function from UniProt:

Tissue specificity from UniProt: Expressed on the apical surface of epithelial cells, especially of airway passages, breast and uterus. Also expressed in activated and unactivated T-cells. Overexpressed in epithelial tumors, such as breast or ovarian cancer and also in non-epithelial tumor cells. Isoform Y is expressed in tumor cells only.

Subcellular UniProt: #Cell membrane #Cytoplasm #Membrane #Nucleus #Secreted

Alternative name from UniProt:

Caution: O-glycosylation sites are annotated in first sequence repeat only. Residues at similar position are probably glycosylated in all repeats. Experimental sites were determined in a synthetic peptide glycosylated in vitro (PubMed:7744025, PubMed:9597769).

Cleaved: Cleaved into 2 chains Mucin-1 subunit alpha (MUC1-NT; MUC1-alpha) Mucin-1 subunit beta (MUC1-beta) Alternative names: MUC1-CT

Miscellaneous: The name KL-6 was originally that of a murine monoclonal antibody reacting with pulmonary adenocarcinoma cell lines and pulmonary epithelial cells. This antibody recognizes a sialylated carbohydrate chain on MUC1.

Recommended name: Mucin-1

Gene name from HGNC: MUC1 (ADMCKD, ADMCKD1, CD227, MCD, MCKD, MCKD1, PEM, PUM)

HPA class: Cancer-related genes CD markers Disease related genes Human disease related genes

AlphaFold DB: P15941

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/P15941

Developmental stage: During fetal development, expressed at low levels in the colonic epithelium from 13 weeks of gestation

HPA link: https://www.proteinatlas.org/ENSG00000185499-MUC1

Tissue specificity RNA from HPA: Tissue enhanced (kidney, stomach)

Tissue expression from HPA: Cytoplasmic and membranous expression mainly in glandular cells and respiratory epithelial cells.

Single cell type specificity Cell type enhanced (Alveolar cells type 2, Exocrine glandular cells, Pancreatic endocrine cells, Gastric mucus-secreting cells, Respiratory ciliated cells, Collecting duct cells)

Immune cell specificity: Immune cell enhanced (T-reg)

Subcellular summary HPA Located in Plasma membrane

Cancer prognostic summary HPA Prognostic marker in pancreatic cancer (unfavorable)

Pathology link: https://www.proteinatlas.org/ENSG00000185499-MUC1/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000185499-MUC1/pathology/endometrial+cancer

Phenotype ID: ;174000

Disease: No disease ID;Tubulointerstitial kidney disease, autosomal dominant, 2 (ADTKD2);

Note1: MUC1/CA 15-3 is used as a serological clinical marker of breast cancer to monitor response to breast cancer treatment and disease recurrence (PubMed:20816948). Decreased levels over time may be indicative of a positive response to treatment. Conversely, increased levels may indicate disease progression. At an early stage disease, only 21% of patients exhibit high MUC1/CA 15-3 levels, that is why CA 15-3 is not a useful screening test. Most antibodies target the highly immunodominant core peptide domain of 20 amino acid (APDTRPAPGSTAPPAHGVTS) tandem repeats. Some antibodies recognize glycosylated epitopes;The disease is caused by variants affecting the gene represented in this entry;

OMIM: 113720;158340;

OMIM link1: https://www.omim.org/entry/174000

OMIM link2: https://www.omim.org/entry/113720;https://www.omim.org/entry/158340;

HGNC ID: HGNC:7508

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7508