MUC1

Gene Information
 
Gene Symbol
MUC1
 
Aliases
ADMCKD, ADMCKD1, CA 15-3, CD227, EMA, H23AG, KL-6, MAM6, MCD, MCKD, MCKD1, MUC-1, MUC-1/SEC, MUC-1/X/ZD, PEM, PEMT, PUM, MUC1
 
Entrez Gene ID
 
Gene Name
Mucin 1, cell surface associated
 
Chromosomal Location
1q22
 
HGNC ID
 
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)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0006977 Biological process DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest IDA 15710329
GO:0006978 Biological process DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IDA 15710329
GO:0010944 Biological process Negative regulation of transcription by competitive promoter binding IDA 15710329
GO:0036003 Biological process Positive regulation of transcription from RNA polymerase II promoter in response to stress IDA 15710329
GO:0043618 Biological process Regulation of transcription from RNA polymerase II promoter in response to stress IDA 15710329
Protein Information
 
Protein Name
DF3 antigen, H23 antigen, Medullary cystic kidney disease, autosomal dominant, breast carcinoma-associated antigen DF3, cancer antigen 15-3, carcinoma-associated mucin, episialin, krebs von den Lungen-6, mucin 1, transmembrane, peanut-reactive urinary mucin, polymorphic epithelial mucin, tumor associated epithelial mucin, tumor-associated epithelial membrane antigen
 
Function
The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack| The beta subunit contains a C-terminal domain which is involved in cell signaling, through phosphorylations and protein-protein interactions. Modulates signaling in ERK, SRC and NF-kappa-B pathways. In activated T-cells, influences directly or indirectly the Ras/MAPK pathway. Promotes tumor progression. Regulates TP53-mediated transcription and determines cell fate in the genotoxic stress response. Binds, together with KLF4, the PE21 promoter element of TP53 and represses TP53 activity
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
Accessions
IPR000082, IPR023217
 
Pfam
Pfam Accession Pfam ID
PF01390 SEA SEA domain
 
OMIM

Associated Diseases

Diseases References
Adrenal tumor 9043763, 10877203, 11921362, 18460550
Aldosteronism primary 9551873, 20150911, 9886897, 8845081
Arrhythmia 12805025
Arteriosclerosis 16141406, 20150911, 16616959
Asthma 8931633, 11392362, 8800568
   
References
 
Primary:

MUC1 as a discriminator between endometrium from fertile and infertile patients with PCOS and endometriosis.

Margarit L, Taylor A, Roberts M H, Hopkins L, Davies C, Brenton A G, Conlan R S, Bunkheila A, Joels L, White J O, Gonzalez D
Institute of Life Science, School of Medicine, Swansea University, and Abertawe Bro Morgannwg University Trust, Singleton Hospital, Swansea SA2 8PP, Wales, United Kingdom.
J Clin Endocrinol Metab. 2010 Dec;95(12):5320-9. doi: 10.1210/jc.2010-0603. Epub
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
HSD1,HSD2,ER and PR 
Endometrial infertility 
 
Rotterdam criteria 
Related 
 
MUC1ND expression was significantly higher in ovulatory PCOS than in fertile and anovulatory PCOS patients 

 

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