MUC1 Gene (Protein Coding)

Mucin 1, Cell Surface Associated

GC01M155185
GIFtS:
47
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 differe... See more...

Aliases for MUC1 Gene

Aliases for MUC1 Gene

  • Mucin 1, Cell Surface Associated 2 3 5
  • PEM 2 3 4
  • 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
  • ADMCKD1 2 3
  • CA 15-3 3 4
  • Mucin-1 3 4
  • ADMCKD 2 3
  • CD227 2 3
  • H23AG 3 4
  • MUC-1 3 4
  • KL-6 3 4
  • MCKD 2 3
  • PEMT 3 4
  • EMA 3 4
  • MCD 2 3
  • PUM 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
  • MUC-1/X 3
  • MUC1/ZD 3
  • MCKD1 3
  • MAM6 3
  • MUC1 5

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
  • GC01M155158
  • 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 Syringoma. Among its related pathways are Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) and Cell adhesion_Cell-matrix glycoconjugates. Gene Ontology (GO) annotations related to this gene include RNA polymerase II proximal promoter sequence-specific DNA binding and p53 binding.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for MUC1 Gene

Genomics for MUC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MUC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MUC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MUC1

Top Transcription factor binding sites by QIAGEN in the MUC1 gene promoter:
  • ATF-2
  • c-Jun

Genomic Locations for MUC1 Gene

Genomic Locations for MUC1 Gene
chr1:155,185,824-155,192,916
(GRCh38/hg38)
Size:
7,093 bases
Orientation:
Minus strand
chr1:155,158,300-155,162,707
(GRCh37/hg19)
Size:
4,408 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for MUC1 Gene

Proteins for MUC1 Gene

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

    Protein Symbol:
    P15941-MUC1_HUMAN
    Recommended name:
    Mucin-1
    Protein Accession:
    P15941
    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

    Size:
    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.
    SequenceCaution:
    • Sequence=AAD14369.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAD14376.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    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.
    • [Isoform Y-LSP]: Lacks the mucin repeats.
    • [Isoform ZD]: Lacks the mucin repeats. Exists as a disulfide-linked oligomer.

    Three dimensional structures from OCA and Proteopedia for MUC1 Gene

    Alternative splice isoforms for MUC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MUC1 Gene

Protein Expression for MUC1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MUC1 Gene

  • Highly glycosylated (N- and O-linked carbohydrates and sialic acid). O-glycosylated to a varying degree on serine and threonine residues within each tandem repeat, ranging from mono- to penta-glycosylation. The average density ranges from about 50% in human milk to over 90% in T47D breast cancer cells. Further sialylation occurs during recycling. Membrane-shed glycoproteins from kidney and breast cancer cells have preferentially sialyated core 1 structures, while secreted forms from the same tissues display mainly core 2 structures. The O-glycosylated content is overlapping in both these tissues with terminal fucose and galactose, 2- and 3-linked galactose, 3- and 3,6-linked GalNAc-ol and 4-linked GlcNAc predominating. Differentially O-glycosylated in breast carcinomas with 3,4-linked GlcNAc. N-glycosylation consists of high-mannose, acidic complex-type and hybrid glycans in the secreted form MUC1/SEC, and neutral complex-type in the transmembrane form, MUC1/TM.
  • Proteolytic cleavage in the SEA domain occurs in the endoplasmic reticulum by an autoproteolytic mechanism and requires the full-length SEA domain as well as requiring a Ser, Thr or Cys residue at the P + 1 site. Cleavage at this site also occurs on isoform MUC1/X but not on isoform MUC1/Y. Ectodomain shedding is mediated by ADAM17.
  • Dual palmitoylation on cysteine residues in the CQC motif is required for recycling from endosomes back to the plasma membrane.
  • Phosphorylated on tyrosines and serine residues in the C-terminal. Phosphorylation on tyrosines in the C-terminal increases the nuclear location of MUC1 and beta-catenin. Phosphorylation by PKC delta induces binding of MUC1 to beta-catenin/CTNNB1 and thus decreases the formation of the beta-catenin/E-cadherin complex. Src-mediated phosphorylation inhibits interaction with GSK3B. Src- and EGFR-mediated phosphorylation on Tyr-1229 increases binding to beta-catenin/CTNNB1. GSK3B-mediated phosphorylation on Ser-1227 decreases this interaction but restores the formation of the beta-cadherin/E-cadherin complex. On T-cell receptor activation, phosphorylated by LCK. PDGFR-mediated phosphorylation increases nuclear colocalization of MUC1CT and CTNNB1.
  • The N-terminal sequence has been shown to begin at position 24 or 28.
  • Glycosylation at Asn1055, Asn1133, Thr131, Thr139, Ser140, Thr144, Asn957, Asn975, Ser989, Thr990, Ser993, Ser999, Thr1001, Thr1003, Thr1004, Ser1009, Thr1010, and Asn1029
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for MUC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for MUC1

No data available for DME Specific Peptides for MUC1 Gene

Domains & Families for MUC1 Gene

Gene Families for MUC1 Gene

HGNC:
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

InterPro:
Blocks:
  • SEA domain
ProtoNet:

Suggested Antigen Peptide Sequences for MUC1 Gene

GenScript: Design optimal peptide antigens:
  • MUC1 isoform T1 (A5YRU0_HUMAN)
  • MUC1 isoform T2 (A5YRU1_HUMAN)
  • MUC1 isoform T3 (A5YRU2_HUMAN)
  • MUC1 isoform T4 (A5YRU3_HUMAN)
  • MUC1 isoform T5 (A5YRU4_HUMAN)
genes like me logo Genes that share domains with MUC1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MUC1 Gene

Function for MUC1 Gene

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Molecular function for MUC1 Gene

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.
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

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 coregulator 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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MUC1

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

COMPARTMENTS
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 4
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

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 HDA 16502470
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with MUC1: view

Pathways & Interactions for MUC1 Gene

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

Pathways by source for MUC1 Gene

1 Sino Biological pathway for MUC1 Gene
2 GeneGo (Thomson Reuters) pathways for MUC1 Gene
  • Bacterial infections in CF airways
  • Cell adhesion_Cell-matrix glycoconjugates
2 Qiagen pathways for MUC1 Gene
  • EGF Pathway
  • ILK Signaling
2 Cell Signaling Technology pathways 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Progesterone Approved, Vet_approved Pharma Activator, Full agonist, Agonist, Pore Blocker, Inhibition Endogenous progesterone receptor agonist 755
Potassium nitrate Approved Pharma Transporter, substrate 0
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3670
Decitabine Approved, Investigational Pharma DNA methyltransferase inhibitor 388
Sargramostim Approved, Investigational Pharma 1067

(38) 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

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  1. CRISPR
  2. miRNA
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mRNA/cDNA for MUC1 Gene

23 REFSEQ mRNAs :
103 NCBI additional mRNA sequence :
29 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MUC1

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: - - -
SP3:
SP4:
SP5: -

Relevant External Links for MUC1 Gene

GeneLoc Exon Structure for
MUC1

Expression for MUC1 Gene

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  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for MUC1 Gene
mRNA expression by GTEx for MUC1 GenemRNA expression by BioGPS 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MUC1

SOURCE GeneReport for Unigene cluster for MUC1 Gene:

Hs.89603

mRNA Expression by UniProt/SwissProt for MUC1 Gene:

P15941-MUC1_HUMAN
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(4.5)
  • Stomach(4.2)
  • Intestine(4.1)
  • Pancreas(3.6)
  • Kidney(3.6)
  • Gall bladder(3.3)
  • Blood(3.1)
  • Lymph node(3)
  • Skin(2.9)
  • Liver(2.8)
  • Bone marrow(2.7)
  • Spleen(2.5)
  • Nervous system(2.5)
  • Heart(2.2)
  • Urine(2.2)
  • Muscle(2.1)
  • Saliva(2.1)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • nervous
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
Abdomen:
  • kidney
Limb:
  • digit
  • finger
  • foot
  • hand
  • knee
  • lower limb
  • toe
  • upper limb
  • wrist
General:
  • 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
Chimpanzee
(Pan troglodytes)
 Mammalia MUC1 30 31
  • 94.63 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MUC1 31
  • 46 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MUC1 31
  • 45 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Muc1 31
  • 39 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia MUC1 31
  • 34 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MUC1 31
  • 18 (a)
 OneToOne
Species where no ortholog for MUC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for MUC1 (if available)
TreeFam:
Gene Tree for MUC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MUC1: view image

Paralogs for MUC1 Gene

Pseudogenes.org 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

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Polymorphic Variants from UniProtKB/Swiss-Prot for MUC1 Gene

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.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MUC1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1557836992 Uncertain Significance: not provided 155,191,940(-) T/TG FRAMESHIFT_VARIANT,INTRON_VARIANT
rs1557837342 Uncertain Significance: not provided 155,191,980(-) GCTGAGGTGACATCGT INFRAME_DELETION,INTRON_VARIANT
rs11465207 - p.Ser1142Asn
rs1611770 - p.Val1117Met

Additional dbSNP identifiers (rs#s) for MUC1 Gene

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

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

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)
MUC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MUC1

SNP Genotyping and Copy Number Assay Products

Disorders for MUC1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
medullary cystic kidney disease 1
  • mckd1
syringoma
  • syringomas
secretory meningioma
  • meningioma
spindle cell carcinoma
  • sarcomatoid carcinoma
fibrous meningioma
  • fibroblastic meningioma
- elite association - COSMIC cancer census association via MalaCards
Search MUC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MUC1_HUMAN
  • 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}.
  • 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.

Additional Disease Information for MUC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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
  2. MUC1 and estrogen receptor alpha gene polymorphisms in dry eye patients. (PMID: 18619437) Imbert Y … Young WW (Experimental eye research 2009) 3 23 41
  3. MUC1 oncoprotein stabilizes and activates estrogen receptor alpha.