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
Gene location (Human)
Chr.	Chromosome 1 (human)
End	155,192,916 bp
RNA expression pattern
	Top expressed in
	pylorus; ; pancreatic ductal cell; ; right uterine tube; ; cardia; ; lower lobe of lung; ; gastric mucosa; ; palpebral conjunctiva; ; gallbladder; ; body of pancreas; ; body of stomach;
	n/a
	More reference expression data
	; ; ; ;
	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
	4582
	n/a
	ENSG00000185499
	n/a
	P15941; Q7Z551
	n/a
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
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
	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. 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. Mucins protect the body from infection by pathogen binding to oligosaccharides in the extracellular domain, preventing the pathogen from reaching the cell surface. Overexpression of MUC1 is often associated with colon, breast, ovarian, lung and pancreatic cancers. Joyce Taylor-Papadimitriou identified and characterised the antigen during her work with breast and ovarian tumors.

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