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Aliases for MUC1 Gene

Aliases for MUC1 Gene

  • Mucin 1, Cell Surface Associated 2 3 5
  • Tumor-Associated Epithelial Membrane Antigen 3 4
  • Breast Carcinoma-Associated Antigen DF3 3 4
  • Peanut-Reactive Urinary Mucin 3 4
  • Polymorphic Epithelial Mucin 3 4
  • Carcinoma-Associated Mucin 3 4
  • Mucin 1, Transmembrane 2 3
  • Krebs Von Den Lungen-6 3 4
  • Cancer Antigen 15-3 3 4
  • Episialin 3 4
  • CA 15-3 3 4
  • H23AG 3 4
  • MUC-1 3 4
  • KL-6 3 4
  • PEMT 3 4
  • EMA 3 4
  • PUM 3 4
  • PEM 3 4
  • Medullary Cystic Kidney Disease 1 (Autosomal Dominant) 2
  • Tumor Associated Epithelial Mucin 3
  • Tumor-Associated Mucin 4
  • CD227 Antigen 4
  • H23 Antigen 3
  • MUC-1/SEC 3
  • ADMCKD1 3
  • MUC-1/X 3
  • MUC1/ZD 3
  • Mucin-1 3
  • ADMCKD 3
  • CD227 3
  • MCKD1 3
  • MAM6 3
  • MCKD 3
  • MCD 3

External Ids for MUC1 Gene

Previous HGNC Symbols for MUC1 Gene

  • PUM
  • MCKD1

Previous GeneCards Identifiers for MUC1 Gene

  • GC01M153036
  • GC01M150898
  • GC01M151933
  • GC01M152377
  • GC01M152378
  • GC01M151854
  • GC01M153388
  • GC01M153424
  • GC01M126521

Summaries for MUC1 Gene

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 Medullary Cystic Kidney Disease 1 and Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related. Among its related pathways are Bacterial infections in CF airways and Cytokine Signaling in Immune system. Gene Ontology (GO) annotations related to this gene include RNA polymerase II proximal promoter sequence-specific DNA binding and p53 binding.

UniProtKB/Swiss-Prot for MUC1 Gene

  • The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack.

  • The beta subunit contains a C-terminal domain which is involved in cell signaling, through phosphorylations and protein-protein interactions. Modulates signaling in ERK, SRC and NF-kappa-B pathways. In activated T-cells, influences directly or indirectly the Ras/MAPK pathway. Promotes tumor progression. Regulates TP53-mediated transcription and determines cell fate in the genotoxic stress response. Binds, together with KLF4, the PE21 promoter element of TP53 and represses TP53 activity.

Gene Wiki entry for MUC1 Gene

Additional gene information for MUC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MUC1 Gene

Genomics for MUC1 Gene

GeneHancer (GH) Regulatory Elements for MUC1 Gene

Promoters and enhancers for MUC1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I155191 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 554.9 -2.3 -2286 6.5 HDGF PKNOX1 CLOCK SMAD1 ARNT ZFP64 ARID4B SIN3A ZNF2 POLR2B ENSG00000231064 MUC1 GC01P155206 LOC105371450 MIR92B CLK2 GBAP1 GON4L UBAP2L KHDC4
GH01I155084 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 11 +107.6 107639 2.5 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B NEUROD1 SIN3A FEZF1 THBS3 ADAM15 UBAP2L GON4L KHDC4 EFNA1 SLC50A1 ENSG00000271267 KRTCAP2 ENSG00000231064
GH01I155094 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.5 +98.5 98488 0.5 NFIB ARID4B KLF17 MZF1 ZNF2 RAD21 RFX5 ZEB1 ZNF335 GLIS2 EFNA1 EFNA4 ENSG00000251246 SLC50A1 KRTCAP2 MUC1 ENSG00000231064 MTX1 THBS3 TRIM46
GH01I155091 Enhancer 1.2 Ensembl ENCODE 11 +101.3 101301 0.9 HDGF FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 GLIS2 EFNA1 SLC50A1 KRTCAP2 ENSG00000231064 MUC1 THBS3 MTX1 DCST1-AS1 ADAM15 EFNA3
GH01I155231 Enhancer 1 Ensembl ENCODE dbSUPER 12.4 -39.3 -39314 1.7 PKNOX1 TAL1 CBFA2T3 TCF12 GABPB1 GLIS1 NR2C1 SPI1 GC01M155231 MTX1P1 GBA FAM189B SCAMP3 MTX1 THBS3 ENSG00000231064 MUC1 KRTCAP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MUC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MUC1 gene promoter:

Genomic Locations for MUC1 Gene

Genomic Locations for MUC1 Gene
7,093 bases
Minus strand

Genomic View for MUC1 Gene

Genes around MUC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MUC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MUC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MUC1 Gene

Proteins for MUC1 Gene

  • Protein details for MUC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A5YRV1
    • A6ZID9
    • A6ZIE0
    • 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

    Protein attributes for MUC1 Gene

    1255 amino acids
    Molecular mass:
    122102 Da
    Quaternary structure:
    • 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.
    • 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.
    • Sequence=AAD14369.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAD14376.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MUC1 Gene

neXtProt entry for MUC1 Gene

Post-translational modifications for MUC1 Gene

  • Dual palmitoylation on cysteine residues in the CQC motif is required for recycling from endosomes back to the plasma membrane.
  • 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.
  • 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.
  • 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.
  • The N-terminal sequence has been shown to begin at position 24 or 28.
  • Glycosylation at Thr131, isoforms=2, 3, 4, 5139, isoforms=2, 3, 4, 5140, Thr144, isoforms=2, 3, 4, 5957, Asn975, isoforms=2, 3, 4, 51001, isoforms=2, 3, 4, 51029, Asn1055, and Asn1133

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MUC1 (MUC1)
  • Abcam antibodies for MUC1

No data available for DME Specific Peptides for MUC1 Gene

Domains & Families for MUC1 Gene

Gene Families for MUC1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for MUC1 Gene


Suggested Antigen Peptide Sequences for MUC1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MUC1: view

No data available for UniProtKB/Swiss-Prot for MUC1 Gene

Function for MUC1 Gene

Molecular function for MUC1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for MUC1 Gene

Gene Ontology (GO) - Molecular Function for MUC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 15710329
GO:0002039 p53 binding IPI 15710329
GO:0003712 transcription cofactor activity IDA 15710329
GO:0005515 protein binding IPI 16888623
genes like me logo Genes that share ontologies with MUC1: view
genes like me logo Genes that share phenotypes with MUC1: view

Human Phenotype Ontology for MUC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MUC1 Gene

Localization for MUC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUC1 Gene

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.
Isoform 5: Secreted.
Isoform Y: Secreted.
Isoform 9: Secreted.
Mucin-1 subunit beta: Cell membrane. Cytoplasm. Nucleus. Note=On EGF and PDGFRB stimulation, transported to the nucleus through interaction with CTNNB1, a process which is stimulated by phosphorylation. On HRG stimulation, colocalizes with JUP/gamma-catenin at the nucleus.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MUC1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
golgi apparatus 5
cytoskeleton 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
endosome 1

Gene Ontology (GO) - Cellular Components for MUC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 15710329
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA,HDA 16502470
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with MUC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MUC1 Gene

Pathways & Interactions for MUC1 Gene

genes like me logo Genes that share pathways with MUC1: view

Pathways by source for MUC1 Gene

SIGNOR curated interactions for MUC1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MUC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest IDA 15710329
GO:0006978 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IDA 15710329
GO:0010944 negative regulation of transcription by competitive promoter binding IDA 15710329
GO:0016266 O-glycan processing TAS --
genes like me logo Genes that share ontologies with MUC1: view

Drugs & Compounds for MUC1 Gene

(61) Drugs for MUC1 Gene - From: ClinicalTrials, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Progesterone Approved, Vet_approved Pharma Full agonist, Activator Endogenous progesterone receptor agonist 600
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3113
Alkylating Agents Pharma 5057
Antibodies Pharma 7224
Antibodies, Bispecific Pharma 120

(40) Additional Compounds for MUC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MUC1: view

Transcripts for MUC1 Gene

Unigene Clusters for MUC1 Gene

Mucin 1, cell surface associated:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MUC1 Gene

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

Relevant External Links for MUC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MUC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MUC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MUC1 Gene

This gene is overexpressed in Stomach (x13.2), Lung (x5.9), Kidney - Cortex (x4.4), and Colon - Transverse (x4.2).

Protein differential expression in normal tissues from HIPED for MUC1 Gene

This gene is overexpressed in Milk (32.3), Nasal epithelium (14.7), and Breast (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MUC1 Gene

Protein tissue co-expression partners for MUC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MUC1 Gene:


SOURCE GeneReport for Unigene cluster for MUC1 Gene:


mRNA Expression by UniProt/SwissProt for MUC1 Gene:

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 Y is expressed in tumor cells only.

Evidence on tissue expression from TISSUES for MUC1 Gene

  • Lung(4.8)
  • Thyroid gland(4.3)
  • Stomach(4.1)
  • Intestine(3.8)
  • Pancreas(3.4)
  • Kidney(3.2)
  • Gall bladder(3.1)
  • Lymph node(2.7)
  • Blood(2.6)
  • Liver(2.1)
  • Skin(2.1)
  • Spleen(2.1)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MUC1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • cardiovascular
  • immune
  • nervous
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • head
  • heart
  • kidney
  • digit
  • finger
  • foot
  • hand
  • knee
  • lower limb
  • toe
  • upper limb
  • wrist
  • blood
  • blood vessel
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with MUC1: view

Orthologs for MUC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MUC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MUC1 33 34
  • 94.63 (n)
(Bos Taurus)
Mammalia MUC1 34
  • 46 (a)
(Canis familiaris)
Mammalia MUC1 34
  • 45 (a)
(Mus musculus)
Mammalia Muc1 34
  • 39 (a)
(Monodelphis domestica)
Mammalia MUC1 34
  • 34 (a)
(Anolis carolinensis)
Reptilia MUC1 34
  • 18 (a)
Species where no ortholog for MUC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for MUC1 Gene

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

Paralogs for MUC1 Gene Pseudogenes for MUC1 Gene

genes like me logo Genes that share paralogs with MUC1: view

No data available for Paralogs for MUC1 Gene

Variants for MUC1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for MUC1 Gene

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.

Sequence variations from dbSNP and Humsavar for MUC1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000119738 -- 155,186,911(-) A/C intron_variant
rs1000583252 -- 155,185,872(-) G/A 3_prime_UTR_variant
rs1002345236 -- 155,193,091(-) CT/ upstream_transcript_variant
rs1002489797 -- 155,186,303(-) T/C intron_variant
rs1003530313 -- 155,192,700(-) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MUC1 Gene

Variant ID Type Subtype PubMed ID
nsv547962 CNV loss 21841781
nsv547961 CNV loss 21841781
nsv527682 CNV gain 19592680
nsv470741 CNV loss 18288195
nsv464084 CNV loss 19166990
nsv2988 CNV insertion 18451855
nsv1010146 CNV gain 25217958
esv3381155 CNV duplication 20981092
esv3331596 CNV duplication 20981092
esv2758971 CNV gain 17122850
esv23811 CNV gain+loss 19812545
esv1005636 CNV insertion 20482838
dgv3n68 CNV loss 17160897

Variation tolerance for MUC1 Gene

Residual Variation Intolerance Score: 60.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.43; 42.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MUC1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

Disorders for MUC1 Gene

MalaCards: The human disease database

(209) MalaCards diseases for MUC1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MUC1 in MalaCards View complete list of genes associated with diseases


  • Medullary cystic kidney disease 1 (MCKD1) [MIM:174000]: A form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade. {ECO:0000269 PubMed:23396133}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=MUC1/CA 15-3 is used as a serological clinical marker of breast cancer to monitor response to breast cancer treatment and disease recurrence (PubMed:20816948). Decreased levels over time may be indicative of a positive response to treatment. Conversely, increased levels may indicate disease progression. At an early stage disease, only 21% of patients exhibit high MUC1/CA 15-3 levels, that is why CA 15-3 is not a useful screening test. Most antibodies target the highly immunodominant core peptide domain of 20 amino acid (APDTRPAPGSTAPPAHGVTS) tandem repeats. Some antibodies recognize glycosylated epitopes. {ECO:0000269 PubMed:20816948}.

Additional Disease Information for MUC1

Genetic Association Database
Human Genome Epidemiology Navigator
Tumor Gene Database
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MUC1: view

No data available for Genatlas for MUC1 Gene

Publications for MUC1 Gene

  1. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. (PMID: 23396133) Kirby A … Daly MJ (Nature genetics 2013) 2 3 4 58
  2. MUC1 and estrogen receptor alpha gene polymorphisms in dry eye patients. (PMID: 18619437) Imbert Y … Young WW (Experimental eye research 2009) 3 22 44 58
  3. MUC1 oncoprotein stabilizes and activates estrogen receptor alpha. (PMID: 16427018) Wei X … Kufe D (Molecular cell 2006) 3 4 22 58
  4. MUC1 membrane trafficking is modulated by multiple interactions. (PMID: 15471854) Kinlough CL … Hughey RP (The Journal of biological chemistry 2004) 3 4 22 58
  5. DF3/MUC1 signaling in multiple myeloma cells is regulated by interleukin-7. (PMID: 12750561) Li Y … Kufe D (Cancer biology & therapy 2003) 3 4 22 58

Products for MUC1 Gene