Sequence in raw or FASTA format:
MUC1 mucin 1, cell surface associated [Homo sapiens (human)]
|Entrez Gene ID||4582|
|Full Name||mucin 1, cell surface associated|
|Synonyms||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|
|General protein information|
|Organism||Homo sapiens (human)|
|Summary||This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011].|
|WP205||IL-7 Signaling Pathway|
|REACT_17015||Metabolism of proteins|
|REACT_22161||Post-translational protein modification|
|REACT_115606||O-linked glycosylation of mucins|
|REACT_115835||Termination of O-glycan biosynthesis|
|Homo sapiens (human)||MUC1||NP_001191215.1|
|Pan troglodytes (chimpanzee)||MUC1||XP_003308485.1|
|Macaca mulatta (Rhesus monkey)||LOC717546||XP_001115634.2|
|GO:0006977||DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest||IDA|
|GO:0006978||DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator||IDA|
|GO:0010944||negative regulation of transcription by competitive promoter binding||IDA|
|GO:0036003||positive regulation of transcription from RNA polymerase II promoter in response to stress||IDA|
|GO:0043618||regulation of transcription from RNA polymerase II promoter in response to stress||IDA|
|GO:0043687||post-translational protein modification||TAS|
|GO:0044267||cellular protein metabolic process||TAS|
|GO:0090240||positive regulation of histone H4 acetylation||IDA|
|GO:1902166||negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator||IDA|
|GO:0005887||integral component of plasma membrane||TAS|
|GO:0016324||apical plasma membrane||IBA|
|GO:0070062||extracellular vesicular exosome||IDA|
|GO:0000978||RNA polymerase II core promoter proximal region sequence-specific DNA binding||IDA|
|GO:0003712||transcription cofactor activity||IDA|
|UniProt||Q7Z551, B1AVQ5, A5YRU7, A6ZID6, A6ZIE4, A6ZID7, B6ECB3, Q7Z538, P15941, A5YRV0, A6ZIE6, A5YRV2, A5YRU5|
What is the normal function of the MUC1 gene?
The MUC1 gene provides instructions for making a protein called mucin 1. This protein is one of several mucin proteins that make up mucus, a slippery substance that lubricates and protects the lining of the airways, digestive system, reproductive system, and other organs and tissues. In addition to its role in mucus, mucin 1 is involved in cell signaling and kidney development.
Although most mucin proteins are released from the cell, mucin 1 spans the cell membrane. It is found in epithelial cells, which are the cells that line the surfaces and cavities of the body. In particular, mucin 1 is found in the respiratory tract, female reproductive organs, and gastrointestinal tract. Like other mucins, mucin 1 has a region called the mucin domain that contains repeated stretches of protein building blocks (amino acids); the number of repeats can vary from 20 to 100. This protein is modified by the addition of numerous chains of sugar molecules, which are attached to certain amino acids in the mucin domain. The sugars spread out from the protein like branches on a tree and prevent access to the cell surface below, protecting the body from foreign invaders. The sugars also attract water molecules, helping lubricate and hydrate the tissues.
The portion of mucin 1 that reaches inside the cell, called the cytoplasmic tail (or MUC1-CT), relays signals from outside the cell to the cell's nucleus; these signals instruct the cell to undergo certain changes. Through this process, mucin 1 is thought to be involved in cell growth and division (proliferation), helping cells stick to one another (cell adhesion), cell movement (motility), and cell survival. The cytoplasmic tail can also detach from the cell membrane and move to the nucleus, although the mechanism is unclear. Some researchers suggest that, in the nucleus, MUC1-CT helps control the activity of other genes. In addition, mucin 1 is present in cells that form the kidneys and is thought to play a role in development of these organs.
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