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MUC1

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]
Full Name
Mucin 1, Cell Surface Associated
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.
Biological Process
DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest Source: BHF-UCL
DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator Source: BHF-UCL
Negative regulation of cell adhesion mediated by integrin Source: CACAO
Negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator Source: BHF-UCL
Negative regulation of transcription by competitive promoter binding Source: BHF-UCL
Positive regulation of histone H4 acetylation Source: BHF-UCL
Positive regulation of transcription from RNA polymerase II promoter in response to stress Source: BHF-UCL
Regulation of transcription from RNA polymerase II promoter in response to stress Source: BHF-UCL
Cellular Location
Plasma membrane
Apical cell membrane
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:
Nucleus
Plasma membrane
Cell membrane
Cytoplasm
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.
Involvement in disease
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.
Tubulointerstitial kidney disease, autosomal dominant, 2 (ADTKD2):
A form of autosomal dominant tubulointerstitial kidney disease, a genetically heterogeneous disorder characterized by slowly progressive loss of kidney function, bland urinary sediment, hyperuricemia, absent or mildly increased albuminuria, lack of severe hypertension during the early stages, and normal or small kidneys on ultrasound. Renal histology shows variable abnormalities including interstitial fibrosis with tubular atrophy, microcystic dilatation of the tubules, thickening of tubular basement membranes, medullary cysts, and secondary glomerulosclerotic or glomerulocystic changes with abnormal glomerular tufting. There is significant variability, as well as incomplete penetrance.
Topology
Extracellular: 24-1158
Helical: 1159-1181
Cytoplasmic: 1182-1255
PTM
Highly glycosylated (N- and O-linked carbohydrates and sialic acid). O-glycosylated to a varying degree on serine and threonine residues within each tandem repeat, ranging from mono- to penta-glycosylation. The average density ranges from about 50% in human milk to over 90% in T47D breast cancer cells. Further sialylation occurs during recycling. Membrane-shed glycoproteins from kidney and breast cancer cells have preferentially sialyated core 1 structures, while secreted forms from the same tissues display mainly core 2 structures. The O-glycosylated content is overlapping in both these tissues with terminal fucose and galactose, 2- and 3-linked galactose, 3- and 3,6-linked GalNAc-ol and 4-linked GlcNAc predominating. Differentially O-glycosylated in breast carcinomas with 3,4-linked GlcNAc. N-glycosylation consists of high-mannose, acidic complex-type and hybrid glycans in the secreted form MUC1/SEC, and neutral complex-type in the transmembrane form, MUC1/TM.
Proteolytic cleavage in the SEA domain occurs in the endoplasmic reticulum by an autoproteolytic mechanism and requires the full-length SEA domain as well as requiring a Ser, Thr or Cys residue at the P + 1 site. Cleavage at this site also occurs on isoform MUC1/X but not on isoform MUC1/Y. Ectodomain shedding is mediated by ADAM17.
Dual palmitoylation on cysteine residues in the CQC motif is required for recycling from endosomes back to the plasma membrane.
Phosphorylated on tyrosines and serine residues in the C-terminal. Phosphorylation on tyrosines in the C-terminal increases the nuclear location of MUC1 and beta-catenin. Phosphorylation by PKC delta induces binding of MUC1 to beta-catenin/CTNNB1 and thus decreases the formation of the beta-catenin/E-cadherin complex. Src-mediated phosphorylation inhibits interaction with GSK3B. Src- and EGFR-mediated phosphorylation on Tyr-1229 increases binding to beta-catenin/CTNNB1. GSK3B-mediated phosphorylation on Ser-1227 decreases this interaction but restores the formation of the beta-cadherin/E-cadherin complex. On T-cell receptor activation, phosphorylated by LCK. PDGFR-mediated phosphorylation increases nuclear colocalization of MUC1CT and CTNNB1.
The N-terminal sequence has been shown to begin at position 24 or 28.

Anti-MUC1 antibodies

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Target: MUC1
Host: Mouse
Antibody Isotype: IgG3
Specificity: Human
Clone: C595
Application*: IC, C, E, WB, F, P
Target: MUC1
Host: Rabbit
Specificity: Human
Clone: CBFYM-2782
Application*: P, C
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBWJC-4199
Application*: C, IC, IP, P
Target: MUC1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBFYC-2975
Application*: IP, WB, P, C
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYC-2974
Application*: P, C
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYC-2973
Application*: C
Target: MUC1
Host: Hamster
Antibody Isotype: IgG
Specificity: Human, Mouse
Clone: CBFYM-2787
Application*: F, IF, IH, IP, WB
Target: MUC1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human, Dog, Monkey
Clone: CBFYM-2786
Application*: WB, IH, P
Target: MUC1
Host: Rabbit
Specificity: Human
Clone: CBFYM-2785
Application*: F
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYM-2784
Application*: F, IC, IH, C, P, WB
Target: MUC1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: CBFYM-2783
Application*: E, WB
Target: MUC1
Host: Mouse
Specificity: Cattle
Clone: CBFYM-2781
Application*: E, IC, IH, WB
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYM-0446
Application*: F, P, C
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYM-0445
Application*: IH, E
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBFYM-0420
Application*: E, F, IF, WB, IP, IH
Target: MUC1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBFYM-0417
Application*: F, IF
Target: MUC1
Host: Human
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXC-0851
Application*: F
Target: MUC1
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human, Mouse
Clone: CBFYC-2980
Application*: E
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse
Clone: CBFYC-2979
Application*: E, WB
Target: MUC1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBFYC-2978
Application*: F, IP, P, WB
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYC-2977
Application*: EM, WB, IP, IF, F, P, E, C
Target: MUC1
Host: Mouse
Antibody Isotype: IgM
Specificity: Human
Clone: CBFYC-2976
Application*: P, E, C
Target: MUC1
Host: Mouse
Antibody Isotype: IgM
Specificity: Human, Mouse, Rat
Clone: CBFYM-2788
Application*: E, IH, P, C
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYM-0051
Application*: E, F, IF, C, P, IP, WB
Target: MUC1
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: M9E7
Application*: E, C
Target: MUC1
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: M8C9
Application*: E, C, IF, SE
Target: MUC1
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: CBFYM-0404
Application*: F, IF, P
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYM-0391
Application*: IH, C
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human, Mouse
Clone: CBFYM-0380
Application*: F, E, P
Target: MUC1
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: CBFYM-0342
Application*: E, C, IF, SE
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYM-0336
Application*: IH, IP, WB
Target: MUC1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: 9BA5
Application*: E
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBFYM-0327
Application*: F, P
Target: MUC1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: CBFYM-0297
Application*: WB, IP, P, F, IF
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYM-0275
Application*: P, C, IF
Target: MUC1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBFYM-0268
Application*: C, P
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYM-0257
Application*: E
Target: MUC1
Host: Mouse
Antibody Isotype: IgG3
Specificity: Human
Clone: CBFYM-0250
Application*: E, F, IF, C, P, WB
Target: MUC1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBFYM-0183
Application*: F
Target: MUC1
Host: Mouse
Antibody Isotype: IgG3
Specificity: Human
Clone: CBFYM-0137
Application*: E, F, IF, IH, WB
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: A1206
Application*: ELISA, IHC, RIA
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYE-1043
Application*: IC, IH, WB
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: A1205
Application*: FC, IHC
Target: MUC1
Host: Mouse
Antibody Isotype: IgM
Specificity: Human
Clone: CBFYE-1561
Application*: IH, E
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYE-1560
Application*: IH, WB
Target: MUC1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBFYE-1559
Application*: C, P, IP, WB
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBFYE-0204
Application*: P, IF, F
Target: MUC1
Host: Hamster
Antibody Isotype: IgG
Specificity: Gibbon, Gorilla, Human, Monkey
Clone: CBFYE-0203
Application*: IH, IF, WB, IP, F
Target: MUC1
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: PT0132
Application*: IHC
Target: MUC1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: MUC1/520
Application*: F, IF, P
Target: MUC1
Host: Mouse
Antibody Isotype: IgG3
Specificity: Human
Clone: C595NCRC48
Application*: E, F, C, P, WB
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 139H2
Application*: E, EM, F, IF, C, P, IP, WB
Target: MUC1
Host: Mouse
Antibody Isotype: IgM
Specificity: Human
Clone: 126E7
Application*: E, C, P
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: A1211
Application*: FC, IF, IHC
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1, λ
Specificity: Human
Clone: A1210
Application*: ELISA, FA, FC, IHC, IP, RIA
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: A1209
Application*: ELISA, FC, IF, IHC, WB
Target: MUC1
Host: Mouse
Specificity: Human
Clone: IHC623
Application*: P, E, IH
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: A1208
Application*: FC, IF, IHC
Target: MUC1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: A1207
Application*: FC, IF, IHC
Target: MUC1
Host: Mouse
Specificity: Human
Clone: IHC566
Application*: IH
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: VU4H5
Application*: WB, P, IF (IC), F
Target: MUC1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 3B9
Application*: WB, E
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 149.2E6
Application*: P
Target: MUC1
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 15B295
Application*: E
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 175C5
Application*: EM, WB, IP, IC/IF, F, P, E, C
Target: MUC1
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: 1B7
Application*: WB, E
Target: MUC1
Host: Mouse
Antibody Isotype: IgM
Specificity: Human
Clone: VU-13F11
Application*: E, C
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: A1204
Application*: ELISA, FC, IF, IHC, IP, WB
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human, Mouse
Clone: A1203
Application*: ELISA, FC, IF, IHC
Target: MUC1
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: 7G1
Application*: IHC
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYR0508
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYR0507
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBFYR0506
Application*: SE
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 9j112
Application*: E, IH
Target: MUC1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: E29
Application*: IP, WB, IF, FC, P
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBFYR0505
Application*: SE
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: EMA-39
Application*: IHC, ELISA
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: S1D12D7
Application*: P, E, IH
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: VU-3C6
Application*: IP, FC, IH, P
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: VU-5F12
Application*: E, P, IH
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1, λ
Specificity: Human
Clone: 16A
Application*: F, IF
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 214D4
Application*: P, C
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: VU-12E1
Application*: E, C
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: VU-11E2
Application*: C, E, P
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse
Clone: MRQ-17
Application*: P
Target: MUC1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: V2G9
Application*: E, WB
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse
Clone: 13F8
Application*: E, WB
Target: MUC1
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human, Mouse
Clone: 13F9
Application*: E
Target: MUC1
Host: Mouse
Specificity: Human
Clone: 15B298
Application*: E
Target: MUC1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: G22-L
Application*: P
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: GP1.4
Application*: IP, IF, WB, FC, IH, P
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: SPM492
Application*: P
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: SPM132
Application*: C, IC/IF, P
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: VU-4H5
Application*: C, P, E, WB
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: DF3
Application*: C, P
Target: MUC1
Host: Mouse
Specificity: Human, Frog
Clone: C789
Application*: IH
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: C-Mu1
Application*: E, IH, R
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: HMFG1
Application*: E, F, IH, IF, WB
Target: MUC1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: SM3
Application*: E, F, IH
Target: MUC1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: EMA201
Application*: IH, IF, P
More Infomation
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For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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