The Mucin 1 (MUC1) gene encodes a membrane bound glycosylated phosphoprotein, belonging to the family of mucins which are heavily glycosylated proteins. (sigmaaldrich.com)
Genetic studies of osmoregulation in yeast have identified mucin-like proteins as critical regulators of osmosensitive signaling and gene expression. (prolekarniky.cz)
Given that mucins and transmembrane proteins play similar roles in yeast osmoregulation, our findings suggest a possible evolutionarily conserved role for the mucin-plasma membrane interface in eukaryotic osmoregulation. (prolekarniky.cz)
Mucins are highly glycosylated proteins that serve a variety of roles in organisms from lubrication to cell-signaling to defense 7 . (nature.com)
Proteins in the first four extracted fractions clustered together and the fifth fraction contained the mucus cluster, mucins and other proteins known to associate with mucins, whereas the traditional airway surface liquid proteins clustered to fraction 1-4 and were absent from the mucus fraction. (biomedcentral.com)
Extracellular3
Muc1 is a type I transmembrane glycoprotein with a unique extracellular domain containing 20 amino acid variable number tandem repeat (VNTR) domain. (sigmaaldrich.com)
Our studies are the first to show that an extracellular mucin-like protein plays an important role in animal osmoregulation in a manner that requires the activity of a novel transmembrane protein. (prolekarniky.cz)
Its transmembrane domain is connected to six repeated extracellular cadherin domains and a cytoplasmic peptide tail that lacks conserved motifs. (biomedcentral.com)
Transmembrane1
namely, MUC3, MUC4, MUC12, MUC13, and the recently described mucin MUC17, which share a C-terminal structural domain that consists of two or three epithelial growth factor (EGF)-like regions, a transmembrane segment, and a short cytoplasmic tail. (bmj.com)
MUC78
Mucin-7 is a protein that in humans is encoded by the MUC7 gene. (wikipedia.org)
The salivary MUC7 gene provides an opportunity for studying such variation, as it harbors copy number variable subexonic repeat sequences that encode for densely O-glycosylated domains (PTS-repeats) with microbe-binding properties. (nature.com)
and (iv) MUC7 PTS-repeats have evolved recurrently and under adaptive constraints. (nature.com)
Here, we focus on the salivary mucin-7 gene ( MUC7 ) to study the evolution and functional impact of subexonic repeats. (nature.com)
MUC7 comprises a number of interesting properties that could make it a model for studying subexonic repeats ( Fig. 1A ). (nature.com)
First, MUC7 carries subexonic repeats that are 69 bp (23 amino acids) long and are copy number variable in humans 5 . (nature.com)
Second, the subexonic repeats of MUC7 code for densely O-glycosylated proline-, threonine-, and serine-rich (PTS) tandem repeat domains. (nature.com)
MUC7 provides an opportunity to assess the broader implications of subexonic repeat variation within the context of the functional evolution of the mucin functional group and primate salivary adaptation. (nature.com)
Glycosylation1
Upregulation of this gene, abnormal intracellular localization and varied glycosylation of Muc1 has been associated with carcinomas. (sigmaaldrich.com)
Muc14
Mucin 1 (Muc1) exhibits protective action by binding to pathogens and is also associated with cell signaling capacity. (sigmaaldrich.com)
Membrane bound mucins MUC1 and MUC3 appear to be associated with the development of gastric carcinoma. (bmj.com)
Aberrant (upregulated) expression of the MUC1 mucin has been seen in breast carcinomas and other neoplasms, such as colon and pancreatic cancers. (bmj.com)
1, 2 Most studies of MUC1 expression in breast carcinomas have shown that increased membrane MUC1 mucin expression on the apical cell surface is associated with a better prognosis (reviewed in Rahn and colleagues 2 ), whereas circumferential staining in tumour cell cytoplasm is associated with a worse prognosis. (bmj.com)
Membrane bound1
Epithelial mucins can be classified into two distinct families: secretory (gel forming) and membrane bound. (bmj.com)
Protein1
The Mucin-Like Protein OSM-8 Negatively Regul. (prolekarniky.cz)
Gene3
Humans carry either a five or six tandem repeat version of the gene. (wikipedia.org)
Here, we show that mutations in the Caenorhabditis elegans mucin-like gene osm-8 specifically disrupt osmoregulatory physiological processes. (prolekarniky.cz)
These repeats can be particularly well studied in this gene because the repeats are relatively short and few in number compared to other mucins. (nature.com)
Primates2
In other primates, the number of repeats found is 4-5 for gorillas, 5 for chimpanzees, 6-7 for orangutans, 8-10 for macaques, 10-11 for baboons and 11-12 for green monkeys. (wikipedia.org)
However, there is no study to our knowledge that specifically investigated the evolution of copy number variable subexonic repeats from their initial emergence as functional units to the adaptive constraints and mutational properties that contributed to their extant variation in primates. (nature.com)
Epithelial1
In general, mucins have the unique function of protecting and lubricating epithelial surfaces, but in recent years they have also been implicated in additional diverse roles, such as growth, fetal development, epithelial renewal and differentiation, epithelial integrity, carcinogenesis, and metastasis. (bmj.com)
Aberrant1
This study investigated the correlations between aberrant expression of mucins in gastric carcinoma and patient clinicopathological features. (bmj.com)
Cell surface1
MUC16 expression was down-regulated by stably expressing an anti-MUC16 single-chain antibody (scFv) targeted to the endoplasmic reticulum (ER), which prevents cell surface localization of MUC16 in OVCAR3 cells. (biomedcentral.com)
Expression1
Several studies have reported conflicting and inconclusive results concerning the clinical relevance of mucin expression in gastric carcinoma. (bmj.com)
Study2
On a broader scale, our study highlights variable subexonic repeats as a primary source for modular evolutionary innovation that lead to rapid functional adaptation. (nature.com)
A recent study has shown that, despite the high intrinsic mutability of subexonic repeats, the vast majority of thousands of subexonic repeats remain strongly conserved among mammals 4 . (nature.com)