InnateDB Protein
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IDBP-103130.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MUC1
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Protein Name
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mucin 1, cell surface associated
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Synonyms
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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;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000339690
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InnateDB Gene
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IDBG-103122 (MUC1)
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Protein Structure
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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.
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Subcellular Localization |
Apical cell membrane {ECO:0000269PubMed:11118479, ECO:0000269PubMed:12832415, ECO:0000269PubMed:12939402, ECO:0000269PubMed:15471854, ECO:0000269PubMed:15972891, ECO:0000269PubMed:16507569, ECO:0000269PubMed:17524503, ECO:0000269PubMed:17545600}; Single- pass type I membrane protein {ECO:0000269PubMed:11118479, ECO:0000269PubMed:12832415, ECO:0000269PubMed:12939402, ECO:0000269PubMed:15471854, ECO:0000269PubMed:15972891, ECO:0000269PubMed:16507569, ECO:0000269PubMed:17524503, ECO:0000269PubMed:17545600}. Note=Exclusively located in the apical domain of the plasma membrane of highly polarized epithelial cells. After endocytosis, internalized and recycled to the cell membrane. Located to microvilli and to the tips of long filopodial protusions.Isoform 5: Secreted.Isoform Y: Secreted.Isoform 9: Secreted.Mucin-1 subunit beta: Cell membrane. Cytoplasm. Nucleus. Note=On EGF and PDGFRB stimulation, transported to the nucleus through interaction with CTNNB1, a process which is stimulated by phosphorylation. On HRG stimulation, colocalizes with JUP/gamma-catenin at the nucleus.
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Disease Associations |
Note=MUC1/CA 15-3 is used as a serological clinical marker of breast cancer to monitor response to breast cancer treatment and disease recurrence (PubMed:20816948). Decreased levels over time may be indicative of a positive response to treatment. Conversely, increased levels may indicate disease progression. At an early stage disease, only 21% of patients exhibit high MUC1/CA 15-3 levels, that is why CA 15-3 is not a useful screening test. Most antibodies target the highly immunodominant core peptide domain of 20 amino acid (APDTRPAPGSTAPPAHGVTS) tandem repeats. Some antibodies recognize glycosylated epitopes. {ECO:0000269PubMed:20816948}.Medullary cystic kidney disease 1 (MCKD1) [MIM:174000]: A form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade. {ECO:0000269PubMed:23396133}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed on the apical surface of epithelial cells, especially of airway passages, breast and uterus. Also expressed in activated and unactivated T-cells. Overexpressed in epithelial tumors, such as breast or ovarian cancer and also in non-epithelial tumor cells. Isoform 7 is expressed in tumor cells only. {ECO:0000269PubMed:15513966, ECO:0000269PubMed:9212228}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 69 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
69
[view]
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Protein-Protein |
67
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
GO:0006977
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DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
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GO:0006978
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DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator
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GO:0010944
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negative regulation of transcription by competitive promoter binding
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GO:0016266
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O-glycan processing
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GO:0036003
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positive regulation of transcription from RNA polymerase II promoter in response to stress
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GO:0043618
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regulation of transcription from RNA polymerase II promoter in response to stress
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GO:0043687
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post-translational protein modification
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GO:0044267
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cellular protein metabolic process
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GO:0045087
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innate immune response (InnateDB)
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GO:0090240
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positive regulation of histone H4 acetylation
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GO:1902166
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negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P15941
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PhosphoSite |
PhosphoSite-P15941
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TrEMBL |
Q7Z545
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UniProt Splice Variant |
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Entrez Gene |
4582
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UniGene |
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RefSeq |
NP_001191225
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HUGO |
HGNC:7508
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OMIM |
158340
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CCDS |
CCDS41409
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HPRD |
01152
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IMGT |
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EMBL |
AF125525
AF348143
AL713999
AY327582
AY327584
AY327586
AY327587
AY327589
AY327591
AY463543
AY466157
BC120974
BC120975
CH471121
EF583653
EF670711
EF670712
FJ226040
FJ226047
FJ226053
J05581
J05582
L38597
M21868
M31823
M32738
M32739
M34088
M34089
M35093
M61170
S81736
S81781
U60259
U60260
U60261
X52228
X52229
X80761
Z17324
Z17325
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GenPept |
AAA35757
AAA35804
AAA35805
AAA35806
AAA35807
AAA57348
AAA59874
AAA59876
AAA60019
AAB53150
AAB59612
AAD10856
AAD10857
AAD10858
AAD14369
AAD14376
AAD27842
AAI20975
AAI20976
AAK30142
AAP97013
AAP97015
AAP97017
AAP97018
AAP97020
AAP97022
AAR18816
AAR28764
ABQ59628
ABS01298
ABS01299
ACI25172
ACI25179
ACI25184
CAA36477
CAA36478
CAA56734
CAA78972
CAA78973
CAI95071
CAI95073
CAI95074
CAI95080
EAW53116
EAW53117
EAW53118
EAW53119
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