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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]
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.
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 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) |
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2 | Cytokine Signaling in Immune system | ||
3 | Diseases of glycosylation | ||
4 | Innate Immune System |
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5 | Metabolism of proteins |
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 | -- |
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||
SP3: | |||||||||||||||||||||||
SP4: | |||||||||||||||||||||||
SP5: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MUC1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MUC1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MUC1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Muc1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MUC1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MUC1 31 |
|
OneToOne |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
medullary cystic kidney disease 1 |
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syringoma |
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secretory meningioma |
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spindle cell carcinoma |
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fibrous meningioma |
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