• Gene id: 4582

Gene Summary

• Gene Symbol: MUC1   Gene   UCSC   Ensembl
• Aliases: ADMCKD, ADMCKD1, CA 15-3, CD227, EMA, H23AG, KL-6, MAM6, MCD, MCKD, MCKD1, MUC-1, MUC-1/SEC, MUC-1/X, MUC1/ZD, PEM, PEMT, PUM
• Gene name: mucin 1, cell surface associated
• Alternate names: mucin-1, H23 antigen, breast carcinoma-associated antigen DF3, cancer antigen 15-3, carcinoma-associated mucin, episialin, krebs von den Lungen-6, mucin 1, transmembrane, peanut-reactive urinary mucin, polymorphic epithelial mucin, tumor associated epithe,
• Gene location: 1q22 (155192914: 155185823)     Exons: 8     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 158340

Protein Summary

• Protein general information: P15941  
  • Name: Mucin 1 (MUC 1) (Breast carcinoma associated antigen DF3) (Cancer antigen 15 3) (CA 15 3) (Carcinoma associated mucin) (Episialin) (H23AG) (Krebs von den Lungen 6) (KL 6) (PEMT) (Peanut reactive urinary mucin) (PUM) (Polymorphic epithelial mucin) (PEM) (T
  • Length: 1255  
  • Mass: 122,102
• Sequence:

  MTPGTQSPFFLLLLLTVLTVVTGSGHASSTPGGEKETSATQRSSVPSSTEKNAVSMTSSVLSSHSPGSGSSTTQG
  QDVTLAPATEPASGSAATWGQDVTSVPVTRPALGSTTPPAHDVTSAPDNKPAPGSTAPPAHGVTSAPDTRPAPGS
  TAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTR
  PAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTS
  APDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPA
  HGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGS
  TAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTR
  PAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTS
  APDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPA
  HGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGS
  TAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTR
  PAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTS
  APDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDNRPALGSTAPPVHNVTSASGSASGSASTLVHN
  GTSARATTTPASKSTPFSIPSHHSDTPTTLASHSTKTDASSTHHSSVPPLTSSNHSTSPQLSTGVSFFFLSFHIS
  NLQFNSSLEDPSTDYYQELQRDISEMFLQIYKQGGFLGLSNIKFRPGSVVVQLTLAFREGTINVHDVETQFNQYK
  TEAASRYNLTISDVSVSDVPFPFSAQSGAGVPGWGIALLVLVCVLVALAIVYLIALAVCQCRRKNYGQLDIFPAR
  DTYHPMSEYPTYHTHGRYVPPSSTDRSPYEKVSAGNGGSSLSYTNPAVAATSANL

• Structural information:
  • Protein Domains: SEA. (1039-1148)
  • Interpro: IPR000082  IPR036364  
  • Prosite: PS50024
  • PDB: 1SM3 2ACM 2FO4 5T6P 5T78
  • PDBsum: 1SM3 2ACM 2FO4 5T6P 5T78
  • DIP: 41890
  • STRING: ENSP00000357380
• Other Databases: GeneCards:  MUC1  Malacards:  MUC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0002039	p53 binding	IPI	molecular function
GO:0003712	transcription cofactor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	IDA	biological process
GO:0006978	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IDA	biological process
GO:0010944	negative regulation of transcription by competitive promoter binding	IDA	biological process
GO:0016266	O-glycan processing	TAS	biological process
GO:0016266	O-glycan processing	TAS	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0031982	vesicle	IDA	cellular component
GO:0033629	negative regulation of cell adhesion mediated by integrin	IDA	biological process
GO:0036003	positive regulation of transcription from RNA polymerase II promoter in response to stress	IDA	biological process
GO:0043618	regulation of transcription from RNA polymerase II promoter in response to stress	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0090240	positive regulation of histone H4 acetylation	IDA	biological process
GO:1902166	negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IDA	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0002039	p53 binding	IPI	molecular function
GO:0003712	transcription cofactor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	IDA	biological process
GO:0006978	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IDA	biological process
GO:0010944	negative regulation of transcription by competitive promoter binding	IDA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016266	O-glycan processing	TAS	biological process
GO:0016266	O-glycan processing	TAS	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0031982	vesicle	IDA	cellular component
GO:0033629	negative regulation of cell adhesion mediated by integrin	IDA	biological process
GO:0036003	positive regulation of transcription from RNA polymerase II promoter in response to stress	IDA	biological process
GO:0043618	regulation of transcription from RNA polymerase II promoter in response to stress	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0090240	positive regulation of histone H4 acetylation	IDA	biological process
GO:1902166	negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IDA	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0002039	p53 binding	IPI	molecular function
GO:0003712	transcription cofactor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	IDA	biological process
GO:0006978	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IDA	biological process
GO:0010944	negative regulation of transcription by competitive promoter binding	IDA	biological process
GO:0016266	O-glycan processing	TAS	biological process
GO:0016266	O-glycan processing	TAS	biological process
GO:0031982	vesicle	IDA	cellular component
GO:0033629	negative regulation of cell adhesion mediated by integrin	IDA	biological process
GO:0036003	positive regulation of transcription from RNA polymerase II promoter in response to stress	IDA	biological process
GO:0043618	regulation of transcription from RNA polymerase II promoter in response to stress	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0090240	positive regulation of histone H4 acetylation	IDA	biological process
GO:1902166	negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IDA	biological process

Diseases

Associated diseases	References
Cancer (stomach)	GAD: 19885554
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (prostate)	GAD: 18628787
Cancer	GAD: 20729852
Cancer (lung)	GAD: 15944787
Cancer (endometrial)	GAD: 14767580
Cancer (Squamous cell)	GAD: 10640953
Cancer (ovarian)	GAD: 18268124
Cancer (breast)	GAD: 19121298
Dry eye syndrome	GAD: 18619437
Dry eye syndrome	GAD: 18619437
Asthma	GAD: 11062147
Autism	GAD: 19058789
Recurrent implantation failure (RIF)	INFBASE: 25747132
Embryo implantation	INFBASE: 17581677
Endometrial receptivity	INFBASE: 15971251
Polycystic ovary syndrome (PCOS)	INFBASE: 20826587
Unexplained infertility	INFBASE: 22698642
Male factor infertility	MIK: 16259065
Spermatogenesis defects	MIK: 16259065
Male factor infertility	MIK: 21857689
Azoospermia	MIK: 16259065
Endometriosis	INFBASE: 20826587
Hydrosalpinx	INFBASE: 23061681
Endometriosis-associated infertility	INFBASE: 21429654
Female infertility	INFBASE: 24939955
Endometrial receptivity	INFBASE: 15971251
Medullary cystic kidney disease	OMIM: 158340
Chronic renal failure	GAD: 21085059
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Idiopathic male infertility	MIK: 21857689
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Azoospermia	MIK: 16259065
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21857689	Idiopathic male infertility	PEMT (M175V), TCblR (rs173665)		337(153 men with idiopathic infertility, 184 fertile male controls)	Male infertility	PEMT TCblR
16259065	Spermatogenesis, Azoospermia			30 (13 normal spermatogenesis, 17 impaired spermatogenesis)	Male infertility	mucin1 mucin9 and mucin13
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881