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

MUC1 Gene

protein-coding   GIFtS: 69
GCID: GC01M155158

mucin 1, cell surface associated

(Previous names: mucin 1, transmembrane )
(Previous symbol: PUM)
 Explore 297 diseases affiliated with
MUC1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MUC1    

Aliases
for MUC1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Mucin 1, Cell Surface Associated1 2     KL-62 3
PUM1 2 3 5     MUC-12 3
PEM1 2 3     PEMT2 3
CD2271 2     CA 15-32 3
Mucin 1, Transmembrane1 2     MAM62
Breast Carcinoma-Associated Antigen DF32 3     MUC-1/SEC2
Cancer Antigen 15-32 3     MUC-1/X2
Carcinoma-Associated Mucin2 3     MUC1/ZD2
Krebs Von Den Lungen-62 3     DF3 Antigen2
Peanut-Reactive Urinary Mucin2 3     Episialin3
Polymorphic Epithelial Mucin2 3     H23 Antigen2
Tumor-Associated Epithelial Membrane Antigen2 3     Mucin-11
Tumor-Associated Mucin2 3     Tumor Associated Epithelial Mucin2
EMA2 3     Episialin3
H23AG2 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


Summaries
for MUC1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MUC1 gene promoter:
         ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MUC1 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

Proteins
for MUC1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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
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: B1AVQ8 B1AVR0 P13931 P15942 P17626 Q0VAP6 Q14128 Q14876 Q16437 Q16442 Q16615
Q7Z552 Q9BXA4 Q9UE75 Q9UE76 Q9UQL1 Q9Y4J2
Alternative splicing: 10 isoforms:  P15941-1   P15941-2   P15941-3   P15941-4   P15941-5   P15941-6   P15941-7   P15941-8   
P15941-9   P15941-10   

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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P15941

    • MUC1 Protein expression data from MOPED and PaxDb:    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   ENSP00000406633   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: MUC1
    OriGene Protein Over-expression Lysate (see all 5): MUC1
    OriGene Custom Protein Services for MUC1 
    GenScript Custom Purified and Recombinant Proteins Services for MUC1
    Novus Biologicals MUC1 Proteins
    Novus Biologicals MUC1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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 (see all 8): MUC1
    OriGene Custom Antibody Services for MUC1 
    GenScript Superior Antibodies for MUC1
    Novus Biologicals MUC1 Antibodies
    Abcam antibodies for MUC1 
    Uscn Antibodies for MUC1
    ThermoFisher Antibodies for MUC1

    Assay Products for MUC1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MUC1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for MUC1

    Protein Domains /
    Families
    for MUC1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MUC1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000082 SEA
     IPR023217 Mucin-1

    Graphical View of Domain Structure for InterPro Entry P15941

    ProtoNet protein and cluster: P15941

    1 Blocks protein family: IPB000082 SEA domain

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


    Function
    for MUC1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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 IPI--
         
    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:
         Mouse knock-out Muc1tm1Gend for MUC1
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MUC1 

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

    OriGene 3'-UTR Clone (see all 7): MUC1
    Browse MicroRNA Expression Plasmids
    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 plasmid: MUC1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MUC1 (see all 7)
    OriGene shRNA RFP: MUC1
    OriGene siRNA: MUC1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MUC1
    Sirion Biotech Custom design and validation of potent shRNA sequences against MUC1 

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MUC1 (see all 9)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MUC1 (see all 7)
    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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MUC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MUC1 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for MUC1
    Search LifeMap BioReagents cell lines for MUC1
    Sirion Biotech Customized stable knockdown cell line services for MUC1 
    Sirion Biotech Customized inducible knockdown cell line services for MUC1
    Sirion Biotech Customized stable overexpressing cell line services for MUC1
    Sirion Biotech Customized inducible overexpressing cell line services for MUC1

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


    Pathways & Interactions
    for MUC1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Addition of GalNAc to the Tn antigen via an alpha-1,6 linkage forms a Core 7 glycoprotein
    		Addition of GlcNAc to the Tn antigen via a beta-1,6 linkage forms a Core 6 glycoprotein1.00
    		Addition of GlcNAc to the Tn antigen via an alpha-1,3 linkage forms a Core 5 glycoprotein1.00
    		Addition of GalNAc to the Tn antigen via an alpha-1,6 linkage forms a Core 7 glycoprotein1.00
    		Termination of O-glycan biosynthesis0.69
    		Addition of galactose to the Tn antigen via an alpha-1,3 linkage forms a Core 8 glycoprotein1.00
    		O-linked glycosylation of mucins0.28
    2Cell adhesion_Cell-matrix glycoconjugates
    		Cell adhesion_Cell-matrix glycoconjugates1.00
    		Cell adhesion Cell-matrix glycoconjugates0.97
    3Asparagine N-linked glycosylation
    		Post-translational protein modification0.44
    		Metabolism of proteins0.15
    4Adhesion
    		Adhesion1.00
    5Immune response_Bacterial infections in normal airways
    		Bacterial infections in CF airways0.78

    Pathway sources
    See GeneCards unified pathways
    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

    5/8        Reactome Pathways for MUC1 (see all 8)
        Addition of GalNAc to the Tn antigen via an alpha-1,6 linkage forms a Core 7 glycoprotein
    O-linked glycosylation of mucins
    Metabolism of proteins
    Post-translational protein modification
    Addition of galactose to the Tn antigen via an alpha-1,3 linkage forms a Core 8 glycoprotein



    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



    Drugs & Compounds
    for MUC1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for MUC1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    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
    18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    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)

    miRNA
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    Inhib. RNA
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    Additional cDNA 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):

    C01735 AI624362 Z17324 CB138987 BM991344 AH001452 AA932409 AA578642 
    M34089 AL046435 AY327586 BU689421 AA262932 BQ029959 CA337453 M26316 
    Z17325 BQ084348 BQ006299 BU754181 CB138569 BM791452 CD366871 BM974802 

    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

    Expression
    for MUC1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTGGGAAGT
    MUC1 Expression
    About this image

    MUC1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyCap MesenchymeCap Mesenchyme CellsKidney
    KidneyPretubular AggregatesPretubular Aggregate CellsKidney
    KidneyRenal VesicleDistal Renal Vesicle CellsKidney
    KidneyRenal VesicleProximal Renal Vesicle CellsKidney
    PancreasPrepancreatic Dorsal Foregut EndodermPre-Pancreatic Foregut Endoderm CellsPancreas
    PancreasPrepancreatic Ventral Foregut EndodermPre-Pancreatic Foregut Endoderm CellsPancreas
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    Parietal epithelial cells (PEC) (Adult Stem / Progenitor Cell)Epithelium, Kidney
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    Parietal epithelial cells (PEC) (Adult Stem / Progenitor Cell)Epithelium, Kidney

    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

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for MUC1 gene

    (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 chordates.

    Orthologs for MUC1 gene from 2/7 species (see all 7)    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 
    lizard
    (Anolis carolinensis)    		 Reptilia MUC16
    		 --
    		 22(a)
    		 1 ↔ 1
    		 GL345105.1(1116-12845)


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

    Paralogs
    for MUC1 gene

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

    Genomic Variants
    for MUC1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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


    10/133 NCBI SNPs in MUC1 are shown (see all 133)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs16117741,2
    		C,F,H--155157853(-) GCTGGC/AACCAG 27 -- ds500119Minor allele frequency- A:0.08NA NS EA WA 2534
    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--------
    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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for MUC1
         3 CNVs: 3315 4257 70141
         1 Indel: 70140
    Human Gene Mutation Database (HGMD): MUC1

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for MUC1 gene

    (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.)
    About This Section
    MUC1 for disorders           About GeneDecksing

    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

    20/297 diseases for MUC1 (see all 297):    About MalaCards
    carcinoma    desmoplastic small round cell tumor    colloid cysts of third ventricle    polymorphous low-grade adenocarcinoma
    sertoli-leydig cell tumor    eccrine porocarcinoma    von hippel-lindau disease    atypical teratoid rhabdoid tumor
    malignant peripheral nerve sheath tumor    lymphoepithelioma-like carcinoma    dermatofibrosarcoma protuberans    breast carcinoma
    central nervous system hemangioblastoma    malignant fibrous histiocytoma    acral lentiginous melanoma    intraneural perineurioma
    fibrous histiocytoma    extraskeletal myxoid chondrosarcoma    syringocystadenoma papilliferum    anaplastic large cell lymphoma

    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

    10/97 Novoseek 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

    Publications
    for MUC1 gene

    (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 2320):
    (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 oncoprotein stabilizes and activates estrogen receptor alpha. (PubMed id 16427018)1, 2, 9 Wei X.... Kufe D. (2006)
    9. The MUC1 SEA module is a self-cleaving domain. (PubMed id 15987679)1, 2, 9 Levitin F.... Wreschner D.H. (2005)
    10. Polymorphism of the MUC1 mucin gene is associated with susceptibility to lung adenocarcinoma and poor prognosis. (PubMed id 15944787)1, 4, 9 Mitsuta K....Kohno N. (2005)

    External Searches for MUC1 gene

    (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)

    Genome Databases showing MUC1 gene

    (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

    Other Databases showing MUC1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MUC1 gene

    (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/

    Intellectual Property
    for MUC1 gene

    (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



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    About This Section

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    von Willebrand factor
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