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MUC1 Gene

protein-coding   GIFtS: 70
GCID: GC01M155158

Mucin 1, Cell Surface Associated

(Previous names: mucin 1, transmembrane, medullary cystic kidney disease...)
(Previous symbols: PUM, MCKD1)
  See MUC1-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)
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Aliases
Mucin 1, Cell Surface Associated1 2     PEMT2 3
PUM1 2 3 5     CA 15-32 3
MCKD11 2 5     ADMCKD2
Medullary Cystic Kidney Disease 1 (Autosomal Dominant)1 2     ADMCKD12
Mucin 1, Transmembrane1 2     CD2272
Breast Carcinoma-Associated Antigen DF32 3     MAM62
Cancer Antigen 15-32 3     MCD2
Carcinoma-Associated Mucin2 3     MCKD2
Krebs Von Den Lungen-62 3     MUC-1/SEC2
Peanut-Reactive Urinary Mucin2 3     MUC-1/X2
Polymorphic Epithelial Mucin2 3     MUC1/ZD2
Tumor-Associated Epithelial Membrane Antigen2 3     DF3 Antigen2
Tumor-Associated Mucin2 3     episialin2
EMA2 3     H23 Antigen2
H23AG2 3     mucin-12
KL-62 3     Tumor Associated Epithelial Mucin2
MUC-12 3     Episialin3
PEM2 3     CD227 Antigen3

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 fibrous meningioma, and monophasic synovial sarcoma. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   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 Chromatin IP Primers for MUC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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;
3 PDB 3D structures from and Proteopedia for MUC1:
1SM3 (3D)        2ACM (3D)        2FO4 (3D)    
Secondary accessions: A5YRV1 A6ZID9 B1AVQ8 B1AVR0 B6ECA1 E7ESE5 E7EUG9 P13931 P15942 P17626
Q0VAP5 Q0VAP6 Q14128 Q14876 Q16437 Q16442 Q16615 Q6S4Y3 Q7Z547 Q7Z548 Q7Z550 Q7Z552 Q9BXA4
Q9UE75 Q9UE76 Q9UQL1 Q9Y4J2
Alternative splicing: 17 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   P15941-15   P15941-16   
P15941-17   (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: 

  • 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/TM1
  • 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 ADAM171
  • Dual palmitoylation on cysteine residues in the CQC motif is required for recycling from endosomes back to the
    plasma membrane1
  • 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 CTNNB11
  • The N-terminal sequence has been shown to begin at position 24 or 28 (PubMed:11341784)1
  • Glycosylation2 at Thr131, Thr139, Ser140, Thr144, Asn957, Asn975, Ser989, Thr990, Ser993, Ser999,
                                 Thr1001, Thr1003, Thr1004, Ser1009, Thr1010, Asn1029, Asn1055, Asn1133
  • Modification sites at PhosphoSitePlus

  • See MUC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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   ENSP00000357378   ENSP00000357374  
     ENSP00000357381   ENSP00000339690   ENSP00000342814   ENSP00000357383   ENSP00000357375  
     ENSP00000338983   ENSP00000343482   ENSP00000388172  
    Reactome Protein details: P15941

    MUC1 Human Recombinant Protein Products:

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    MUC1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MUC1
    R&D Systems Antibodies for MUC1 (MUC-1)
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    Abcam antibodies for MUC1
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    ThermoFisher Antibody for MUC1
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    MUC1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MUC1
    Cloud-Clone Corp. CLIAs for MUC1
    Search eBioscience for ELISAs for MUC1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with MUC1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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
         
    Find genes that share ontologies with MUC1           About GenesLikeMe


    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 

    Find genes that share phenotypes with MUC1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Muc1tm1Gend for MUC1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MUC1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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-145-5p (MIRT000426), hsa-mir-124-3p (MIRT022593), hsa-mir-21-5p (MIRT030810), hsa-mir-1226-3p (MIRT005492), hsa-mir-125b-5p (MIRT022114), hsa-mir-335-5p (MIRT017760)

    Block miRNA regulation of human, mouse, rat MUC1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate MUC1:
    hsa-miR-1226
    SwitchGear 3'UTR luciferase reporter plasmidMUC1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MUC1
    Predesigned siRNA for gene silencing in human, mouse, rat MUC1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MUC1

    Clone
    Products:
         
    OriGene clones in human, mouse for MUC1 (see all 40)
    OriGene ORF clones in mouse, rat for MUC1
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    GenScript: all cDNA clones in your preferred vector (see all 20): MUC1 (NM_001204290)
    Sino Biological Human cDNA Clone for MUC1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MUC1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUC1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MUC1_HUMAN, P15941: 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
    MUC1_HUMAN, P15941: Isoform 5: Secreted
    MUC1_HUMAN, P15941: Isoform Y: Secreted
    MUC1_HUMAN, P15941: Isoform 9: Secreted
    MUC1_HUMAN, P15941: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    nucleus5
    plasma membrane5
    golgi apparatus4
    cytoskeleton2
    endosome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IDA15710329
    GO:0005576extracellular region ----
    GO:0005737cytoplasm IBA--
    GO:0005796Golgi lumen TAS--
    GO:0005886plasma membrane ----

    Find genes that share ontologies with MUC1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for MUC1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1O-linked glycosylation of mucins
    O-linked glycosylation of mucins0.47
    Termination of O-glycan biosynthesis0.38
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30
    3Immune response Bacterial infections in normal airways
    Bacterial infections in CF airways0.78
    4ERK Signaling
    ILK Signaling0.49
    5IL-9 Signaling Pathways
    IL-7 Signaling Pathway0.40


    Find genes that share SuperPaths with MUC1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe 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

    2 Reactome Pathways for MUC1
        O-linked glycosylation of mucins
    Termination of O-glycan biosynthesis


        Pathway & Disease-focused RT2 Profiler PCR Array including MUC1: 
              Breast Cancer in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MUC1

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

    Selected Interacting proteins for MUC1 (P159411, 2, 3 ENSP000003389834) via UniProtKB, MINT, STRING, and/or I2D (see all 74)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005191, 2, 3, ENSP000003614234EBI-2804728,EBI-375543 MINT-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): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia ----
    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:0007565female pregnancy ----
    GO:0010944negative regulation of transcription by competitive promoter binding IDA15710329

    Find genes that share ontologies with MUC1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    Browse Tocris compounds for MUC1

    Selected 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)



    Find genes that share compounds with MUC1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    Selected 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
    ENST00000368393 ENST00000368389 ENST00000368396 ENST00000343256 ENST00000342482
    ENST00000498431 ENST00000467134 ENST00000471283 ENST00000368398 ENST00000368390
    ENST00000337604 ENST00000468978
    miRNA
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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 

    Selected 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 

    Selected AceView cDNA sequences (see all 438):

    Z17324 NM_173852 BM993267 CB133998 AY327584 F28098 CB108277 AI275026 
    BU754181 BM991344 AA299420 AA055051 BQ446679 BM974802 CD675398 AA425185 
    BM797973 AW029340 CD366871 BM831319 BM969296 BQ006299 Z17325 AI886098 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MUC1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 3) 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
             Islets of Langerhans
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Pre-Pancreatic Foregut Endoderm Cells Prepancreatic Dorsal Foregut Endoderm
             Foregut
    MUC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MUC1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MUC1 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Muc15 mucin 1, transmembrane   --   3 (39.02 cM) 89229057 
    lizard
    (Anolis carolinensis)
    Reptilia MUC16
    mucin 1, cell surface associated
    18(a)
    1 ↔ 1
    GL345105.1(1116-14092)


    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)
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    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    MUC1_HUMAN, P15941: 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


    Selected SNPs for MUC1 (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) Selected 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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MUC1
    DNA2.0 Custom Variant and Variant Library Synthesis for MUC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 158340   
    OMIM disorders: 174000  
    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
  • 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for MUC1 (see all 102):    
    About MalaCards
    fibrous meningioma    monophasic synovial sarcoma    hidradenoma    biphasic synovial sarcoma
    chordoid meningioma    sclerosing perineurioma    intrahepatic cholangiocarcinoma    adenoid squamous cell carcinoma
    cystadenocarcinoma    metanephric adenoma    chondroid chordoma    xanthogranulomatous pyelonephritis
    reticular perineurioma    nodular hidradenoma    medullary cystic kidney disease type 1    clear cell ependymoma
    clear cell meningioma    perineurioma    eccrine porocarcinoma    endometrial mucinous adenocarcinoma

    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

    Find genes that share disorders with MUC1           About GenesLikeMe

    Selected 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)
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    PubMed articles for MUC1 gene, integrated from 10 sources (see all 2378):
    (articles sorted by number of sources associating them with MUC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. (PubMed id 23396133)1, 2, 3 Kirby A....Daly M.J. (Nat. Genet. 2013)
    2. Molecular cloning and expression of human tumor-associated polymorphic epithelial mucin. (PubMed id 1697589)1, 2, 3 Gendler S.J.... Wilson D. (J. Biol. Chem. 1990)
    3. MUC1 membrane trafficking is modulated by multiple interactions. (PubMed id 15471854)1, 2, 9 Kinlough C.L.... Hughey R.P. (J. Biol. Chem. 2004)
    4. Mucin mRNA expression in lung adenocarcinoma cell lines and tissues. (PubMed id 8604237)1, 2, 9 Yu C.J.... Wu C.W. (Oncology 1996)
    5. MUC1 gene polymorphism in the gastric carcinogenesis pathway. (PubMed id 11464247)1, 4, 9 Silva F....David L. (Eur. J. Hum. Genet. 2001)
    6. 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. (Int. J. Cancer 1997)
    7. 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. (J. Biol. Chem. 1999)
    8. 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. (FEBS Lett. 1994)
    9. MUC1 and estrogen receptor alpha gene polymorphisms in dry eye patients. (PubMed id 18619437)1, 4, 9 Imbert Y....Young W.W. (Exp. Eye Res. 2009)
    10. MUC1 oncoprotein stabilizes and activates estrogen receptor alpha. (PubMed id 16427018)1, 2, 9 Wei X.... Kufe D. (Mol. Cell 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 4582 HGNC: 7508 AceView: MUC1 Ensembl:ENSG00000185499 euGenes: HUgn4582
    ECgene: MUC1 H-InvDB: MUC1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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,
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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