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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MUC1 Gene

protein-coding   GIFtS: 70
GCID: GC01M155158

Mucin 1, Cell Surface Associated

(Previous names: mucin 1, transmembrane)
(Previous symbol: PUM)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Mucin 1, Cell Surface Associated1 2     PEMT2 3
PUM1 2 3 5     CA 15-32 3
Mucin 1, Transmembrane1 2     CD2272
Breast Carcinoma-Associated Antigen DF32 3     MAM62
Cancer Antigen 15-32 3     MCKD12
Carcinoma-Associated Mucin2 3     MUC-1/SEC2
Krebs Von Den Lungen-62 3     MUC-1/X2
Peanut-Reactive Urinary Mucin2 3     MUC1/ZD2
Polymorphic Epithelial Mucin2 3     DF3 Antigen2
Tumor-Associated Epithelial Membrane Antigen2 3     episialin2
Tumor-Associated Mucin2 3     H23 Antigen2
EMA2 3     mucin-12
H23AG2 3     Tumor Associated Epithelial Mucin2
KL-62 3     Episialin3
MUC-12 3     CD227 Antigen3
PEM2 3     

External Ids:    HGNC: 75081   Entrez Gene: 45822   Ensembl: ENSG000001854997   OMIM: 1583405   UniProtKB: P159413   

Export aliases for MUC1 gene to outside databases

Previous GC identifers: GC01M153036 GC01M150898 GC01M151933 GC01M152377 GC01M152378 GC01M151854 GC01M153388 GC01M153424 GC01M126521


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MUC1 Gene:
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 Summary for MUC1 Gene: 
MUC1 (mucin 1, cell surface associated) is a protein-coding gene. Diseases associated with MUC1 include malignant mesothelioma, and perineurioma, and among its related super-pathways are Mucin type O-Glycan biosynthesis and Post-translational protein modification. GO annotations related to this gene include RNA polymerase II core promoter proximal region sequence-specific DNA binding and p53 binding.

UniProtKB/Swiss-Prot: MUC1_HUMAN, P15941
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
Function: 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

Gene Wiki entry for MUC1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MUC1 gene promoter:
         ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMUC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MUC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MUC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21   Ensembl cytogenetic band:  1q22   HGNC cytogenetic band: 1q22

MUC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MUC1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M155158:  view genomic region     (about GC identifiers)

Start:
155,158,300 bp from pter      End:
155,162,707 bp from pter
Size:
4,408 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MUC1_HUMAN, P15941 (See protein sequence)
Recommended Name: Mucin-1 precursor  
Size: 1255 amino acids; 122102 Da
Subunit: The alpha subunit forms a tight, non-covalent heterodimeric complex with the proteolytically-released
beta-subunit. Interaction, via the tandem repeat region, with domain 1 of ICAM1 is implicated in cell migration
and metastases. Isoform 1 binds directly the SH2 domain of GRB2, and forms a MUC1/GRB2/SOS1 complex involved in
RAS signaling. The cytoplasmic tail (MUC1CT) interacts with several proteins such as SRC, CTNNB1 and ERBs.
Interaction with the SH2 domain of CSK decreases interaction with GSK3B. Interacts with CTNNB1/beta-catenin and
JUP/gamma-catenin and promotes cell adhesion. Interaction with JUP/gamma-catenin is induced by heregulin. Binds
PRKCD, ERBB2, ERBB3 and ERBB4. Heregulin (HRG) stimulates the interaction with ERBB2 and, to a much lesser
extent, the interaction with ERBB3 and ERBB4. Interacts with P53 in response to DNA damage. Interacts with KLF4.
Interacts with estrogen receptor alpha/ESR1, through its DNA-binding domain, and stimulates its transcription
activity. Binds ADAM17. Isoform ZD forms disulfide-linked oligomers
Subcellular location: Apical cell membrane; Single-pass type I membrane protein. 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
Subcellular location: Isoform 5: Secreted
Subcellular location: Isoform 7: Secreted
Subcellular location: Isoform 9: Secreted
Subcellular location: 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
Developmental stage: During fetal development, expressed at low levels in the colonic epithelium from 13 weeks of
gestation
Miscellaneous: The name KL-6 was originally that of a murine monoclonal antibody reacting with pulmonary
adenocarcinoma cell lines and pulmonary epithelial cells. This antibody recognizes a sialylated carbohydrate
chain on MUC1
Caution: O-glycosylation sites are annotated in first sequence repeat only. Residues at similar position are
probably glycosylated in all repeats. Experimental sites were determined in a synthetic peptide glycosylated in
vitro (PubMed:7744025, PubMed:9597769)
Sequence caution: Sequence=AAD14369.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAD14376.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for MUC1:
2ACM (3D)        2FO4 (3D)    
Secondary accessions: A6ZID9 B1AVQ8 B1AVR0 E7EUG9 P13931 P15942 P17626 Q0VAP5 Q0VAP6 Q14128
Q14876 Q16437 Q16442 Q16615 Q6S4Y3 Q7Z547 Q7Z550 Q7Z552 Q9BXA4 Q9UE75 Q9UE76 Q9UQL1 Q9Y4J2
Alternative splicing: 14 isoforms:  P15941-1   P15941-2   P15941-3   P15941-4   P15941-5   P15941-6   P15941-7   P15941-8   
P15941-9   P15941-10   P15941-11   P15941-12   P15941-13   P15941-14   (Lacks the mucin repeats. Exists as a disulfide-linked oligomer)

Explore the universe of human proteins at neXtProt for MUC1: NX_P15941

Explore proteomics data for MUC1 at MOPED 

Post-translational modifications:

  • UniProtKB: 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
  • UniProtKB: 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
  • UniProtKB: Dual palmitoylation on cysteine residues in the CQC motif is required for recycling from endosomes back to the
    plasma membrane
  • UniProtKB: 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
  • UniProtKB: The N-terminal sequence has been shown to begin at position 24 or 28 (PubMed:11341784)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P15941

  • MUC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MUC1 Protein Expression
    REFSEQ proteins (20 alternative transcripts): 
    NP_001018016.1  NP_001018017.1  NP_001037855.1  NP_001037856.1  NP_001037857.1  NP_001037858.1  NP_001191214.1  NP_001191215.1  
    NP_001191216.1  NP_001191217.1  NP_001191218.1  NP_001191219.1  NP_001191220.1  NP_001191221.1  NP_001191222.1  NP_001191223.1  
    NP_001191224.1  NP_001191225.1  NP_001191226.1  NP_002447.4  

    ENSEMBL proteins: 
     ENSP00000357380   ENSP00000357377   ENSP00000389098   ENSP00000357374   ENSP00000357381  
     ENSP00000339690   ENSP00000342814   ENSP00000357383   ENSP00000357375   ENSP00000338983  
     ENSP00000343482   ENSP00000388172   ENSP00000357378  
    Reactome Protein details: P15941
    Human Recombinant Protein Products for MUC1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for MUC1
    OriGene Protein Over-expression Lysate for MUC1
    OriGene MassSpec for MUC1 
    OriGene Custom Protein Services for MUC1
    GenScript Custom Purified and Recombinant Proteins Services for MUC1
    Novus Biologicals MUC1 Proteins
    Novus Biologicals MUC1 Lysates
    Sino Biological Recombinant Protein for MUC1
    Sino Biological Cell Lysate for MUC1 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MUC1 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IDA15710329
    GO:0005576extracellular region IEA--
    GO:0005737cytoplasm IBA--
    GO:0005796Golgi lumen TAS--
    GO:0005887integral to plasma membrane TAS1697589

    MUC1 for ontologies           About GeneDecksing



    MUC1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of MUC1
    R&D Systems Antibodies for MUC1 (MUC-1)
    Cell Signaling Technology (CST) Antibodies for MUC1 
    OriGene Antibodies for MUC1
    OriGene Custom Antibody Services for MUC1
    GenScript Superior Antibodies for MUC1
    Novus Biologicals MUC1 Antibodies
    Abcam antibodies for MUC1
    Cloud-Clone Corp. Antibodies for MUC1 
    ThermoFisher Antibody for MUC1
    LSBio Antibodies in human, mouse, rat for MUC1 

    Assay Products for MUC1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MUC1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MUC1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MUC1 
    Cloud-Clone Corp. CLIAs for MUC1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CD: CD molecules
    MUC: Mucins

    2 InterPro protein domains:
     IPR000082 SEA_dom
     IPR023217 Mucin-1

    Graphical View of Domain Structure for InterPro Entry P15941

    ProtoNet protein and cluster: P15941

    1 Blocks protein domain: IPB000082 SEA domain

    UniProtKB/Swiss-Prot: MUC1_HUMAN, P15941
    Similarity: Contains 1 SEA domain


    MUC1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MUC1_HUMAN, P15941
    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
    Function: 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

         Genatlas biochemistry entry for MUC1:
    mucin 1,expressed in epithelial ovarian cancer,glycoprotein of membrane,marker for the type II pneumocyte cell
    lineage during the proces of lung carcinogenesis,expressed in normal urothelium and in bladder cancer,in
    esophageal squamous cell carcinoma with poor prognosis

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA15710329
    GO:0002039p53 binding IPI15710329
    GO:0003712transcription cofactor activity IDA15710329
    GO:0005515protein binding IPI16888623
         
    MUC1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MUC1:
     Decreased focal adhesion (FA)  

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Muc1):
     digestive/alimentary  endocrine/exocrine gland  homeostasis/metabolism  integument  liver/biliary system 
     no phenotypic analysis  normal  tumorigenesis  vision/eye 

    MUC1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Muc1tm1Gend for MUC1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MUC1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MUC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MUC1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MUC1 

    miRNA
    Products:
        
    miRTarBase miRNAs that target MUC1:
    hsa-mir-145 (MIRT000426), hsa-mir-1226 (MIRT005492)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MUC1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate MUC1:
    hsa-miR-1226
    SwitchGear 3'UTR luciferase reporter plasmidMUC1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MUC1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MUC1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MUC1
    Sirion Biotech Customized adenovirus for overexpression of MUC1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for MUC1 (see all 37)
    OriGene ORF clones in mouse, rat for MUC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 20): MUC1 (NM_001204290)
    Sino Biological Human cDNA Clone for MUC1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MUC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MUC1
    Sirion Biotech Customized lentivirus for stable overexpression of MUC1 
                         Customized lentivirus expression plasmids for stable overexpression of MUC1 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUC1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MUC1 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1O-linked glycosylation of mucins
    O-linked glycosylation of mucins0.44
    Termination of O-glycan biosynthesis0.41
    2Asparagine N-linked glycosylation
    Post-translational protein modification0.44
    Metabolism of proteins0.35
    3Cell adhesion Cell-matrix glycoconjugates
    Cell adhesion Cell-matrix glycoconjugates0.97
    4Immune response Bacterial infections in normal airways
    Bacterial infections in CF airways0.78
    5Rho Family GTPases
    ILK Signaling0.49

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for MUC1
        Cell adhesion Cell-matrix glycoconjugates

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MUC1
        ILK Signaling
    EGF Pathway

    1 Cell Signaling Technology (CST) Pathway for MUC1
        Adhesion

    2 GeneGo (Thomson Reuters) Pathways for MUC1
        Cell adhesion Cell-matrix glycoconjugates
    Bacterial infections in CF airways

    1 BioSystems Pathway for MUC1
        IL-7 Signaling Pathway

    1 Sino Biological Pathway for MUC1 
        EGFR Signaling Pathway

    4        Reactome Pathways for MUC1
        O-linked glycosylation of mucins
    Metabolism of proteins
    Post-translational protein modification
    Termination of O-glycan biosynthesis



    MUC1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MUC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/73 Interacting proteins for MUC1 (P159411, 2, 3 ENSP000003389834) via UniProtKB, MINT, STRING, and/or I2D (see all 73)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005192, 3, ENSP000003614234MINT-2880925 MINT-2881084 MINT-2881002 MINT-2881028 MINT-2880967 MINT-2880944 MINT-2881060 MINT-2881110 I2D: score=1 STRING: ENSP00000361423
    SRCP129312, 3, ENSP000003509414MINT-8038205 MINT-8038220 MINT-8038235 I2D: score=3 STRING: ENSP00000350941
    CTNND1O607163, ENSP000003820044I2D: score=2 STRING: ENSP00000382004
    ERBB2P046263, ENSP000002695714I2D: score=2 STRING: ENSP00000269571
    GSK3BP498413, ENSP000003248064I2D: score=2 STRING: ENSP00000324806
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006977DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest IDA15710329
    GO:0006978DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IDA15710329
    GO:0010944negative regulation of transcription by competitive promoter binding IDA15710329
    GO:0016266O-glycan processing TAS--
    GO:0036003positive regulation of transcription from RNA polymerase II promoter in response to stress IDA15710329

    MUC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MUC1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MUC1

    10/83 Novoseek inferred chemical compound relationships for MUC1 gene (see all 83)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    b 723 81.5 68 1700877 (6), 1698663 (3), 7539881 (2), 10912939 (2) (see all 41)
    mucicarmine 80.4 11 10405240 (1), 18422977 (1), 20410810 (1), 7954054 (1) (see all 10)
    benzyl-alpha-galnac 72.9 10 15522176 (4), 14767580 (2), 11058865 (1), 9579575 (1) (see all 5)
    pe-10 65 4 9786354 (1), 11570910 (1), 12745458 (1), 20224732 (1)
    [alcl] 64.2 22 12796388 (2), 11729213 (2), 9490693 (1), 10091777 (1) (see all 10)
    progesterone 61 151 17717071 (4), 16740655 (4), 10672061 (2), 18206148 (2) (see all 98)
    paraffin 60.4 44 1693875 (1), 2240355 (1), 1376944 (1), 7524376 (1) (see all 30)
    hematoxylin 56.7 22 12189500 (1), 12928636 (1), 7959982 (1), 7667972 (1) (see all 17)
    estrogen 54.9 129 9806351 (3), 17083744 (3), 19730221 (2), 17360185 (2) (see all 90)
    reticulin 44.5 4 11107053 (1), 15597767 (1), 10719873 (1), 8629902 (1)

    Search CenterWatch for drugs/clinical trials and news about MUC1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for MUC1 gene (22 alternative transcripts): 
    NM_001018016.2  NM_001018017.2  NM_001044390.2  NM_001044391.2  NM_001044392.2  NM_001044393.2  NM_001204285.1  NM_001204286.1  
    NM_001204287.1  NM_001204288.1  NM_001204289.1  NM_001204290.1  NM_001204291.1  NM_001204292.1  NM_001204293.1  NM_001204294.1  
    NM_001204295.1  NM_001204296.1  NM_001204297.1  NM_002456.5  NM_001018021.1  NM_182741.1  

    Unigene Cluster for MUC1:

    Mucin 1, cell surface associated
    Hs.89603  [show with all ESTs]
    Unigene Representative Sequence: X52228
    18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000368395(uc001fhz.3 uc010pfb.2 uc010pfc.2 uc009wph.3 uc010pfe.2 uc009wpi.3 uc010pfg.2 uc010pfd.2 uc010pfh.2 uc010pff.2 uc010pfi.2 uc010pfj.2 uc009wpn.3 uc009wpw.3 uc001fil.3 uc001fij.3 uc001fia.3 uc009wpx.3 uc001fid.3 uc009wpz.3 uc001fik.3 uc010pfr.2 uc001fio.3 uc009wpl.3 uc009wpm.3 uc009wpk.3 uc001fip.3 uc009wqg.3 uc001fic.3 uc001fie.3 uc009wpq.3 uc009wpr.3 uc001fif.3 uc001fin.3 uc009wpj.3 uc009wpv.3 uc001fib.3 uc009wpy.3 uc009wpu.3 uc010pfm.2 uc001fiq.3 uc009wqa.3 uc010pfn.2 uc010pfo.2 uc001fim.3 uc010pfp.2 uc009wqc.3 uc009wqd.3 uc009wqb.3 uc010pfq.2 uc001fit.3 uc001fii.3 uc009wpo.3 uc001fih.3 uc009wqe.3 uc009wpp.3 uc021pap.1 uc021paq.1 uc009wqf.3 uc009wps.3 uc009wpt.3 uc001fis.2)
    ENST00000462317 ENST00000485118 ENST00000368392 ENST00000438413 ENST00000462215
    ENST00000368389 ENST00000368396 ENST00000343256 ENST00000342482 ENST00000498431
    ENST00000467134 ENST00000471283 ENST00000368398 ENST00000368390 ENST00000337604
    ENST00000468978 ENST00000494844(uc001fiv.2 uc001fiw.2)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF125525.1 AF348143.1 AK301575.1 AY327582.1 AY327583.1 AY327584.1 AY327585.1 AY327586.1 
    AY327587.1 AY327588.1 AY327591.1 AY327597.1 AY327598.1 AY466157.1 BC120974.2 BC120975.2 
    EF583647.1 EF583649.1 EF583650.1 EF583652.1 EF583653.1 EF583654.1 EF583656.1 EF670707.1 
    EF670708.1 EF670709.1 EF670711.1 EF670712.1 EF670714.1 EF670715.1 EF670716.1 EF670718.1 
    EF670719.1 EF670722.1 EF670723.1 FJ226053.1 J05581.1 M31823.1 M34088.1 M34089.1 
    S81736.1 S81781.1 U60259.1 U60260.1 U60261.1 X52228.1 X52229.1 X80761.1 
    Z17324.1 Z17325.1 

    24/26 DOTS entries (see all 26):

    DT.91940082  DT.95375840  DT.456238  DT.101985198  DT.101985205  DT.101985204  DT.92427670  DT.121335502 
    DT.91730001  DT.100819142  DT.86855365  DT.121335538  DT.75197540  DT.97859847  DT.121335537  DT.121335543 
    DT.100819140  DT.75198122  DT.86846783  DT.92427675  DT.100819139  DT.91682007  DT.121335490  DT.95375854 

    24/438 AceView cDNA sequences (see all 438):

    F28098 CB138992 AY327586 BM969296 AA405814 BM673704 BF969528 AI521451 
    CB133998 AH001451 M34089 BQ446679 BM852127 CB138987 AI886098 BM993267 
    AW369452 CA337453 CB124769 AH001452 BM991344 D63281 CB140007 M26316 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for MUC1    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8
    SP1:                                                              -         
    SP2:                                -     -     -                           
    SP3:                                                                        
    SP4:                                                                        
    SP5:        -                                                               


    ECgene alternative splicing isoforms for MUC1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MUC1 expression in normal human tissues (normalized intensities)      MUC1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTGGGAAGT
    MUC1 Expression
    About this image


    MUC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Kidney (Urinary System)    fully expand to see all 5 entries
             Cap Mesenchyme Cells Cap Mesenchyme
             Parietal epithelial cells (PEC)
     
     Pancreas (Endocrine System)    fully expand to see all 3 entries
             Pre-Pancreatic Foregut Endoderm Cells Prepancreatic Dorsal Foregut Endoderm
             visceral organ/gut/foregut-midgut junction   
     
     Epithelium (Uncategorized)    fully expand to see all 3 entries
             Human Tracheal Epithelial Cells (HTEpiC)   
             nasal epithelium   
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Human Tracheal Epithelial Cells (HTEpiC)   
     
     Colon (Gastrointestinal Tract)
             colonic mucosal (ibs)   

    See MUC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MUC1

    SOURCE GeneReport for Unigene cluster: Hs.89603

    UniProtKB/Swiss-Prot: MUC1_HUMAN, P15941
    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

        SABiosciences Expression via Pathway-Focused PCR Array including MUC1: 
              Breast Cancer in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of human and mouse.

    Orthologs for MUC1 gene from 1/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Muc11 , 5 mucin 1, transmembrane1, 5 67.25(n)1
    55.87(a)1
      3 (39.02 cM)5
    178291  NM_013605.11  NP_038633.11 
     892290575 


    ENSEMBL Gene Tree for MUC1 (if available)
    TreeFam Gene Tree for MUC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: MUC1_HUMAN, P15941
    Polymorphism: The number of repeats is highly polymorphic. It varies from 21 to 125 in the northern European
    population. The most frequent alleles contains 41 and 85 repeats. The tandemly repeated icosapeptide underlies
    polymorphism at three positions: PAPGSTAP[PAQT]AHGVTSAP[DT/ES]R, DT -> ES and the single replacements P -> A, P
    -> Q and P-> T. The most frequent replacement DT -> ES occurs in up to 50% of the repeats


    10/168 SNPs in MUC1 are shown (see all 168)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1389359161,2
    --155157968(+) CCTGGA/GGGGCA 20 -- ds50010--------
    rs1841905551,2
    --155157984(+) CCAGGA/GGGCAA 20 -- ds50010--------
    rs115902861,2
    H--155158081(+) CCCGCC/TTGGGT 20 -- ds50010--------
    rs1494214731,2
    --155158275(+) GCCCAC/TGGGTC 20 -- ds50010--------
    rs1887493151,2
    --155158379(+) CCTCCA/TGGGAG 20 -- ut310--------
    rs114652101,2
    C,F,H--155158414(-) TGAGGG/ACTCAT 20 -- ut31 ese33Minor allele frequency- A:0.01NS NA 466
    rs16117731,2
    C,F,H--155158532(-) CCCTGC/TACCCT 20 -- ut31 ese39Minor allele frequency- T:0.03NA NS MN WA 1332
    rs1390431001,2
    C--155158601(+) GCGGGC/TGACGT 20 -- ut310--------
    rs3695975511,2
    C--155158602(+) CGGGCA/GACGTG 20 -- ut310--------
    rs16117721,2
    C,F,H--155158605(-) GGGCAC/TGTCGC 20 -- ut31 ese311Minor allele frequency- T:0.01NA NS MN EA 1370

    HapMap Linkage Disequilibrium report for MUC1 (155158300 - 155162707 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/14 variations for MUC1 (see all 14):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1005636CNV Insertion20482838
    nsv2988CNV Insertion18451855
    dgv391n71CNV Loss21882294
    dgv3n68CNV Loss17160897
    nsv872458CNV Loss21882294
    nsv464084CNV Loss19166990
    nsv872464CNV Loss21882294
    nsv872460CNV Loss21882294
    nsv470741CNV Loss18288195
    nsv872457CNV Loss21882294


    Human Gene Mutation Database (HGMD): MUC1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 158340    OMIM disorders: --

    UniProtKB/Swiss-Prot: MUC1_HUMAN, P15941
  • 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

  • 20/278 diseases for MUC1 (see all 278):    About MalaCards
    malignant mesothelioma    perineurioma    chondroid chordoma    adenoiditis
    chordoid meningioma    monophasic synovial sarcoma    clear cell meningioma    sclerosing perineurioma
    eccrine porocarcinoma    cystadenocarcinoma    reticular perineurioma    fibrous meningioma
    adenoid squamous cell carcinoma    osteoblastoma    hidradenoma    ameloblastic carcinoma
    colloid cysts of third ventricle    clear cell ependymoma    endometrial mucinous adenocarcinoma    biphasic synovial sarcoma

    12 diseases from the University of Copenhagen DISEASES database for MUC1:
    Carcinoma     Breast cancer     Pneumonia     Pancreatic cancer
    Interstitial lung disease     Ovarian cancer     Cholangiocarcinoma     Lung cancer
    Pulmonary alveolar proteinosis     Colorectal cancer     Dermatomyositis     Adenoma

    MUC1 for disorders           About GeneDecksing

    10/97 Novoseek inferred disease relationships for MUC1 gene (see all 97)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    perineurioma 89.4 24 12459629 (4), 19540561 (2), 18520438 (2), 15958849 (2) (see all 14)
    tumors 84.8 1584 9820526 (8), 14737104 (6), 15696607 (6), 11391575 (5) (see all 99)
    carcinoma 82.5 316 10202278 (5), 10398137 (5), 15272531 (4), 15154007 (3) (see all 99)
    sarcoma epithelioid 82.3 8 19997734 (1), 1718178 (1), 12946229 (1), 16778474 (1) (see all 7)
    sarcoma synovial 80.6 20 17845763 (3), 1661412 (2), 9930576 (1), 7514419 (1) (see all 13)
    rhabdoid tumor 80.5 4 11468564 (1), 17284108 (1), 15965700 (1), 16528370 (1)
    adenocarcinoma 78 247 8606540 (5), 10521973 (4), 19946103 (4), 17991319 (4) (see all 99)
    chordoma 76.9 62 7504258 (2), 7512866 (2), 1722044 (2), 1703453 (2) (see all 33)
    metastasis 76.2 189 11850585 (5), 12969535 (5), 1382831 (4), 11813625 (4) (see all 99)
    anaplastic large cell lymphoma 75.8 10 11729213 (2), 12796388 (1), 14555387 (1), 11493472 (1)

    Genetic Association Database (GAD): MUC1
    Human Genome Epidemiology (HuGE) Navigator: MUC1 (24 documents)
    Tumor Gene Database (TGDB): MUC1

    Export disorders for MUC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MUC1 gene, integrated from 9 sources (see all 2354):
    (articles sorted by number of sources associating them with MUC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of human tumor-associated polymorphic epithelial mucin. (PubMed id 1697589)1, 2, 3 Gendler S.J.... Wilson D. (1990)
    2. MUC1 membrane trafficking is modulated by multiple interactions. (PubMed id 15471854)1, 2, 9 Kinlough C.L.... Hughey R.P. (2004)
    3. Mucin mRNA expression in lung adenocarcinoma cell lines and tissues. (PubMed id 8604237)1, 2, 9 Yu C.J.... Wu C.W. (1996)
    4. MUC1 gene polymorphism in the gastric carcinogenesis pathway. (PubMed id 11464247)1, 4, 9 Silva F....David L. (2001)
    5. Comparison of MUC-1 mucin expression in epithelial and non-epithelial cancer cell lines and demonstration of a new short variant form (MUC- 1/Z). (PubMed id 9212228)1, 2, 9 Oosterkamp H.M....Finstad C.L. (1997)
    6. High density O-glycosylation on tandem repeat peptide from secretory MUC1 of T47D breast cancer cells. (PubMed id 10373415)1, 2, 9 Mueller S....Hanisch F.-G. (1999)
    7. Tyrosine phosphorylation of the MUC1 breast cancer membrane proteins. Cytokine receptor-like molecules. (PubMed id 7988707)1, 2, 9 Zrihan-Licht S.... Wreschner D.H. (1994)
    8. MUC1 and estrogen receptor alpha gene polymorphisms in dry eye patients. (PubMed id 18619437)1, 4, 9 Imbert Y....Young W.W. (2008)
    9. MUC1 oncoprotein stabilizes and activates estrogen receptor alpha. (PubMed id 16427018)1, 2, 9 Wei X.... Kufe D. (2006)
    10. The MUC1 SEA module is a self-cleaving domain. (PubMed id 15987679)1, 2, 9 Levitin F.... Wreschner D.H. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4582 HGNC: 7508 AceView: MUC1 Ensembl:ENSG00000185499 euGenes: HUgn4582
    ECgene: MUC1 H-InvDB: MUC1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MUC1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MUC1 Genetics and Cytogenetics in Oncology and Haematology
    Mucin databasehttp://www.medkem.gu.se/mucinbiology/databases/
    NIEHS-SNPshttp://egp.gs.washington.edu/data/muc1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MUC1 gene:
    Search GeneIP for patents involving MUC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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