• The Mucin 1 (MUC1) gene encodes a membrane bound glycosylated phosphoprotein, belonging to the family of mucins which are heavily glycosylated proteins. (sigmaaldrich.com)
  • Mucins are highly glycosylated proteins that serve a variety of roles in organisms from lubrication to cell-signaling to defense 7 . (nature.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)
  • Cadherin genes encode a superfamily of calcium-dependent adhesion-related type-1 transmembrane proteins. (biomedcentral.com)
  • Retroviral proteins, often glycosylated, coded by the envelope (env) gene. (lookformedical.com)
  • Proteins coded by the retroviral gag gene. (lookformedical.com)
  • Whole-genome sequencing of the protozoan pathogen Trypanosoma cruzi revealed that the diploid genome contains a predicted 22,570 proteins encoded by genes, of which 12,570 represent allelic pairs. (inrae.fr)
  • 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)
  • Mucin-7 is a protein that in humans is encoded by the MUC7 gene. (wikipedia.org)
  • Our research traced the evolution of an important mucin protein called MUC7 that is found in saliva. (disabled-world.com)
  • When we looked at the history of the gene that codes for the protein, we see the signature of archaic admixture in modern day Sub-Saharan African populations. (disabled-world.com)
  • The finding comes from a University at Buffalo-led research project that examined the evolutionary history of MUC7, a gene that codes for an important salivary protein of the same name. (disabled-world.com)
  • In some people, the gene that codes for MUC7 hold six copies of genetic instructions that direct the body to build parts of the corresponding protein. (disabled-world.com)
  • The Mucin-Like Protein OSM-8 Negatively Regul. (prolekarniky.cz)
  • 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)
  • The protein encoded by this gene is a member of the CMGC family of serine/threonine protein kinases. (cancerindex.org)
  • What does this gene/protein do? (cancerindex.org)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)
  • The env genes contain a cis-acting RNA target sequence for the rev protein (= GENE PRODUCTS, REV ), termed the rev-responsive element (RRE). (lookformedical.com)
  • External envelope protein of the human immunodeficiency virus which is encoded by the HIV env gene. (lookformedical.com)
  • Transmembrane envelope protein of the HUMAN IMMUNODEFICIENCY VIRUS which is encoded by the HIV env gene. (lookformedical.com)
  • Over 50% of the genome consists of repeated sequences, such as retrotransposons and genes for large families of surface molecules, which include trans-sialidases, mucins, gp63s, and a large novel family (>1300 copies) of mucin-associated surface protein (MASP) genes. (inrae.fr)
  • The annotation of the full genome sequence revealed the absence of genes encoding for a non-flagellar type 3 protein secretion system (NF-T3SS). (assignster.com)
  • In animals, the MUC7 gene is found in most placental mammals, but not marsupials. (wikipedia.org)
  • As part of this investigation, the team examined the MUC7 gene in more than 2,500 modern human genomes. (disabled-world.com)
  • The Sub-Saharan variant was so distinctive that Neanderthal and Denisovan MUC7 genes matched more closely with those of other modern humans than the Sub-Saharan outlier did. (disabled-world.com)
  • Given the rate that genes mutate during evolution, the team calculated that the ancestors of people who carry the Sub-Saharan MUC7 variant interbred with another ancient human species as recently as 150,000 years ago, after the two species' evolutionary path diverged from each other some 1.5 to 2 million years ago. (disabled-world.com)
  • The evidence for this came from an analysis of biological samples from 130 people, which found different versions of the MUC7 gene were strongly associated with different oral microbiome compositions. (buffalo.edu)
  • From what we know of MUC7, it makes sense that people with different versions of the MUC7 gene could have different oral microbiomes," Ruhl says. (buffalo.edu)
  • 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)
  • a) Genomic location, organization and subexonic copy number variation of the MUC7 gene in the human reference genome (GRCh37/hg19). (nature.com)
  • While whole gene duplications and deletions are relatively well-studied, the biology of subexonic ( i.e. , within coding exon sequences), copy number variation remains elusive. (nature.com)
  • The results demonstrated the presence of segmental duplications of CysD domains, insertions/deletions (indels) of tandem repeats, and single nucleotide variants," they note. (pacb.com)
  • From the abstract: 'Genome sequencing (GS) is one of the most comprehensive assays that interrogate single nucleotide variants, copy number variants, mitochondrial variants, repeat expansions, and structural variants in one assay. (cdc.gov)
  • Muc1 is a type I transmembrane glycoprotein with a unique extracellular domain containing 20 amino acid variable number tandem repeat (VNTR) domain. (sigmaaldrich.com)
  • The MUC1 gene is mapped to human chromosome 1q22. (sigmaaldrich.com)
  • Mucin 1 (Muc1) exhibits protective action by binding to pathogens and is also associated with cell signaling capacity. (sigmaaldrich.com)
  • Upregulation of this gene, abnormal intracellular localization and varied glycosylation of Muc1 has been associated with carcinomas. (sigmaaldrich.com)
  • Mucin-1 kidney disease, previously described as medullary cystic kidney disease type 1 (MCKD1, OMIM 174000), is an autosomal dominant tubulointerstitial kidney disease recently shown to be caused by a single-base insertion within the variable number tandem repeat region of the MUC1 gene. (mit.edu)
  • 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)
  • This disease, previously referred to as MCKD type 1, is due to a mutation in the variable-number tandem repeat region of the MUC1 (Mucin 1) gene. (medscape.com)
  • In a paper entitled " Genome Reference and Sequence Variation in the Large Repetitive Central Exon of Human MUC5AC ," published in the American Journal of Respiratory Cell and Molecular Biology, corresponding authors Wanda O'Neal and Judith Voynow along with their collaborators describe the use of Single Molecule, Real-Time (SMRT®) Sequencing to characterize a complex mucin exon. (pacb.com)
  • MUC5AC, located on the P arm of chromosome 11, encodes one of the two major secreted mucins found in our airways and contributes to gastrointestinal homeostasis through its activity in the gut. (pacb.com)
  • The characterization of MUC5AC long exon structure from the reduced representation library supported the structure of the cysD domain and the variable number tandem repeat (VNTR) regions that were observed in the PCR amplicons, validating the fidelity of the assay. (pacb.com)
  • Its transmembrane domain is connected to six repeated extracellular cadherin domains and a cytoplasmic peptide tail that lacks conserved motifs. (biomedcentral.com)
  • 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)
  • To understand the evolution of this gene, we analyzed mammalian and primate genomes within a comparative framework. (nature.com)
  • Mammalian mucins, glycoproteins that are major constituents of the glycocalyx that covers mucosal epithelium. (embl.de)
  • Fontsere C, de Manuel M, Marques-Bonet T, Kuhlwilm M. Admixture in mammals and how to understand its functional implications: on the abundance of gene flow in mammalian species, its impact on the genome, and roads into a functional understanding. (upf.edu)
  • The variable number of tandem repeats (VNTR) polymorphism of the MUC20 gene was detected in several cell lines. (scienceopen.com)
  • The present study revealed that there is no association between the VNTR polymorphism of the MUC20 gene and the clinical manifestations in IgAN patients at the time of renal biopsy. (scienceopen.com)
  • With increasing interest on mucins as diagnostic and therapeutic targets in cancers and other diseases, it is becoming imperative to characterize novel mucins and investigate their biological significance. (nih.gov)
  • Epithelial mucins can be classified into two distinct families: secretory (gel forming) and membrane bound. (bmj.com)
  • The canonical variable number of tandem repeats polymorphism of the central tandem repeat domain of the MUC genes is not significantly detected in the MUC17 gene. (nih.gov)
  • We analyzed commonly reported European and Asian obesity-related gene variants in a Mexican-Mestizo population through each single nucleotide polymorphism (SNP) and a genetic risk score (GRS) based on 23 selected SNPs. (shengsci.com)
  • Gene fusions derived by transcriptional readthrough are driven by segmental duplication in human. (upf.edu)
  • which exhibited low transcriptional activity, especially of genes involved in secondary bile acid biosynthesis and neuroendocrine signaling (i.e., production of neurotransmitters, indoles and ligands for cannabinoid receptors). (biomedcentral.com)
  • UMOD risk variants identified in the above-mentioned GWAS are located in the promoter region of the gene, leading to a theory that they altered UMOD expression. (medscape.com)
  • Genomic structural variants constitute the majority of variable base pairs in primate genomes and affect gene function in multiple ways. (nature.com)
  • The gene is predicted to be implicated in a range of diseases, including cystic fibrosis, asthma, inflammatory bowel disease, tumor development, and more. (pacb.com)
  • Furthermore, integrated analyses of the gene expression networks revealed correlations among TJP1, CSF1 and CTLA4 at the mRNA level, suggesting a possible role for TJP1 in the immune environment. (molcells.org)
  • Characterization of human mucin MUC17. (nih.gov)
  • The MUC17 gene is located within a 39-kb DNA fragment between MUC12 and SERPINE1 on chromosome 7 in the region q22.1. (nih.gov)
  • Structurally, KIM-1 is a member of the immunoglobulin gene superfamily most reminiscent of mucosal addressin cell adhesion molecule 1 (MAdCAM-1). (scienceopen.com)
  • Humans carry either a five or six tandem repeat version of the gene. (wikipedia.org)
  • The analysis yielded a surprise: A group of genomes from Sub-Saharan Africa had a version of the gene that was wildly different from versions found in other modern humans. (disabled-world.com)
  • Prior studies by other researchers found that the five-copy version of the gene protected against asthma, but Gokcumen and Ruhl did not see this association when they ran a more detailed analysis. (disabled-world.com)
  • Human KIM-1 exhibits homology to a monkey gene, hepatitis A virus cell receptor 1 (HAVcr-1), which was identified recently as a receptor for the hepatitis A virus. (scienceopen.com)
  • Chromosomal abnormalities, HLA phenotypes, and polymorphisms of various genes have been associated with acne. (springer.com)
  • To identify genes required for Osm-8 phenotypes, we performed a genome-wide RNAi osm-8 suppressor screen. (prolekarniky.cz)
  • After screening ∼18,000 gene knockdowns, we identified 27 suppressors that specifically affect the constitutive osmosensitive gene expression and Osr phenotypes of osm-8 mutants. (prolekarniky.cz)
  • If a gene is associated with a phenotype, subjects with similar genotypes in this gene should also have similar phenotypes. (shengsci.com)
  • Without the accurate sequence of the exon, mucins have not been well represented in genome-wide, exome, or gene expression studies that require prior knowledge of a genetic region. (pacb.com)
  • 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)
  • Mucin 1 lies on the tubular cell apical surface and has a role in signal transduction pathways. (medscape.com)
  • The locus at chromosome 1q21 was identified by linkage mapping in 1998, but the gene has only recently been discovered due to difficulty with sequencing this highly repetitive region and was previously missed using next-generation sequencing. (medscape.com)
  • Validation results indicate an accurate and reliable test for clinically establishing the molecular diagnosis of mucin-1 kidney disease with 100% sensitivity and specificity across 275 tests called. (mit.edu)
  • Light sensitivity: This tandem dye is sensitive photo-induced oxidation. (thermofisher.com)
  • This study investigated the correlations between aberrant expression of mucins in gastric carcinoma and patient clinicopathological features. (bmj.com)
  • We therefore developed and validated a mass spectrometry-based probe extension assay with a series of internal controls to detect the insertion event using 24 previously characterized positive samples from patients with mucin-1 kidney disease and 24 control samples known to be wild type for the variant. (mit.edu)
  • Because of variable age of disease onset and often subtle signs and symptoms, clinical diagnosis of mucin-1 kidney disease and differentiation from other forms of hereditary kidney disease have been difficult. (mit.edu)
  • Several studies have reported conflicting and inconclusive results concerning the clinical relevance of mucin expression in gastric carcinoma. (bmj.com)
  • The top 10% of highly expressed genes in LMS tissues were obtained from public databases. (molcells.org)
  • Description: A sandwich ELISA kit for detection of Mucin 7, Secreted from Human in samples from blood, serum, plasma, cell culture fluid and other biological fluids. (pharmas-eu.org)
  • Here, we show that mutations in the Caenorhabditis elegans mucin-like gene osm-8 specifically disrupt osmoregulatory physiological processes. (prolekarniky.cz)
  • In addition, the screening of two candidate genes, SHANK2 and KCNE3, failed to reveal any disease-causing mutations. (shengsci.com)
  • 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)
  • There are 20 partial D-domains, found as tandem repeats, inserted between two of the four full D-domains and an additional partial D-domain. (embl.de)
  • Catechol 2,3-dioxygenase (C23O) gene was found andamplified with the designed primers from the total DNA of C-14-1. (researchgate.net)
  • 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)
  • In other people, the gene harbors only five sets of these instructions (known as tandem repeats). (disabled-world.com)
  • In osm-8 mutants, normal physiological responses to hypertonic stress, such as the accumulation of organic osmolytes and activation of osmoresponsive gene expression, are constitutively activated. (prolekarniky.cz)
  • according to morphological, physiological and its 16S rRNA gene sequence. (researchgate.net)
  • The causal insertion resides in a variable number tandem repeat region with high GC content, which has made detection by standard next-generation sequencing impossible to date. (mit.edu)
  • To identify the TJP1-dependent factors important in the development of LMS, genes with altered expression were selected in SK-LMS-1 cells such as cyclinD1, CSF1 and so on. (molcells.org)
  • Altered expression of this gene has been observed in multiple human cancers. (cancerindex.org)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • 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)
  • A region at the N terminus of the mouse cDNA contains three tandem repeats homologous to MAM domains. (embl.de)
  • A mutation in this gene resulting in reduced cell proliferation, and impaired cell motility and polarity, and has been identified in patients with primary microcephaly. (cancerindex.org)
  • Mucins in cancer: protection and control of the cell surface. (scienceopen.com)