Mucin short variant S1

MUC1
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 1SM3, 2ACM
Identifiers
Aliases	MUC1, ADMCKD, ADMCKD1, CA 15-3, CD227, EMA, H23AG, KL-6, MAM6, MCD, MCKD, MCKD1, MUC-1, MUC-1/SEC, MUC-1/X, MUC1/ZD, PEM, PEMT, PUM, mucin 1, cell surface associated, ADTKD2, Ca15-3, Mucin-1
External IDs	OMIM: 158340; HomoloGene: 136477; GeneCards: MUC1; OMA:MUC1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q22 Start 155,185,824 bp[1] End 155,192,916 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pylorus pancreatic ductal cell nasal epithelium right uterine tube cardia olfactory zone of nasal mucosa lower lobe of lung buccal mucosa cell gastric mucosa palpebral conjunctiva n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding transcription coregulator activity RNA polymerase II cis-regulatory region sequence-specific DNA binding p53 binding Cellular component extracellular region cytoplasm integral component of membrane nucleus Golgi lumen integral component of plasma membrane apical plasma membrane membrane vesicle extracellular exosome extracellular space plasma membrane Biological process positive regulation of histone H4 acetylation regulation of transcription from RNA polymerase II promoter in response to stress DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator negative regulation of cell adhesion mediated by integrin DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator positive regulation of transcription from RNA polymerase II promoter in response to stress O-glycan processing negative regulation of transcription by competitive promoter binding stimulatory C-type lectin receptor signaling pathway cytokine-mediated signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4582 n/a Ensembl ENSG00000185499 n/a UniProt P15941 Q7Z551 n/a RefSeq (mRNA) NM_001018016 NM_001018017 NM_001018021 NM_001044390 NM_001044391 NM_001044392 NM_001044393 NM_001204285 NM_001204286 NM_001204287 NM_001204288 NM_001204289 NM_001204290 NM_001204291 NM_001204292 NM_001204293 NM_001204294 NM_001204295 NM_001204296 NM_001204297 NM_002456 NM_182741 NM_001371720 n/a RefSeq (protein) NP_001018016 NP_001018017 NP_001037855 NP_001037856 NP_001037857 NP_001037858 NP_001191214 NP_001191215 NP_001191216 NP_001191217 NP_001191218 NP_001191219 NP_001191220 NP_001191221 NP_001191222 NP_001191223 NP_001191224 NP_001191225 NP_001191226 NP_002447 NP_001358649 NP_001191217.1 NP_001191225.1 NP_001037856.1 n/a Location (UCSC) Chr 1: 155.19 – 155.19 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

Mucin short variant S1, also called polymorphic epithelial mucin (PEM) or epithelial membrane antigen (EMA), is a mucin encoded by the MUC1 gene in humans.^[3] Mucin short variant S1 is a glycoprotein with extensive O-linked glycosylation of its extracellular domain. Mucins line the apical surface of epithelial cells in the lungs, stomach, intestines, eyes and several other organs.^[4] Mucins protect the body from infection by pathogen binding to oligosaccharides in the extracellular domain, preventing the pathogen from reaching the cell surface.^[5] Overexpression of MUC1 is often associated with colon, breast, ovarian, lung and pancreatic cancers.^[6] Joyce Taylor-Papadimitriou identified and characterised the antigen during her work with breast and ovarian tumors.