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Gene id

4582

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 epithelial mucin,

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 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]

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

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 i

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)
Motifs	Interaction with(1203-1206) Interaction with(1229-1232) Required for(1243-1246)
Interpro:	IPR023217 IPR000082
Prosite:	PS50024
Pfam:	PF01390
PDB:	1SM3 2ACM 2FO4 5T6P 5T78
PDBsum:	1SM3 2ACM 2FO4 5T6P 5T78
DIP:	41890
MINT:	156679
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 pr omoter proximal region se quence-specific DNA bindi ng	IDA	molecular_function
GO:0002039	p53 binding	IPI	molecular_function
GO:0003712	transcription cofactor ac tivity	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 pla sma membrane	TAS	cellular_component
GO:0006977	DNA damage response, sign al transduction by p53 cl ass mediator resulting in cell cycle arrest	IDA	biological_process
GO:0006978	DNA damage response, sign al transduction by p53 cl ass mediator resulting in transcription of p21 cla ss mediator	IDA	biological_process
GO:0010944	negative regulation of tr anscription by competitiv e 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 ce ll adhesion mediated by i ntegrin	IDA	biological_process
GO:0036003	positive regulation of tr anscription from RNA poly merase II promoter in res ponse to stress	IDA	biological_process
GO:0043618	regulation of transcripti on 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 hi stone H4 acetylation	IDA	biological_process
GO:1902166	negative regulation of in trinsic apoptotic signali ng 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 pr omoter proximal region se quence-specific DNA bindi ng	IDA	molecular_function
GO:0002039	p53 binding	IPI	molecular_function
GO:0003712	transcription cofactor ac tivity	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 pla sma membrane	TAS	cellular_component
GO:0006977	DNA damage response, sign al transduction by p53 cl ass mediator resulting in cell cycle arrest	IDA	biological_process
GO:0006978	DNA damage response, sign al transduction by p53 cl ass mediator resulting in transcription of p21 cla ss mediator	IDA	biological_process
GO:0010944	negative regulation of tr anscription by competitiv e promoter binding	IDA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	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 ce ll adhesion mediated by i ntegrin	IDA	biological_process
GO:0036003	positive regulation of tr anscription from RNA poly merase II promoter in res ponse to stress	IDA	biological_process
GO:0043618	regulation of transcripti on 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 hi stone H4 acetylation	IDA	biological_process
GO:1902166	negative regulation of in trinsic apoptotic signali ng 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 pr omoter proximal region se quence-specific DNA bindi ng	IDA	molecular_function
GO:0002039	p53 binding	IPI	molecular_function
GO:0003712	transcription cofactor ac tivity	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 pla sma membrane	TAS	cellular_component
GO:0006977	DNA damage response, sign al transduction by p53 cl ass mediator resulting in cell cycle arrest	IDA	biological_process
GO:0006978	DNA damage response, sign al transduction by p53 cl ass mediator resulting in transcription of p21 cla ss mediator	IDA	biological_process
GO:0010944	negative regulation of tr anscription by competitiv e 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 ce ll adhesion mediated by i ntegrin	IDA	biological_process
GO:0036003	positive regulation of tr anscription from RNA poly merase II promoter in res ponse to stress	IDA	biological_process
GO:0043618	regulation of transcripti on 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 hi stone H4 acetylation	IDA	biological_process
GO:1902166	negative regulation of in trinsic apoptotic signali ng pathway in response to DNA damage by p53 class mediator	IDA	biological_process

Diseases

Associated diseases	References
Asthma	PMID: 11062147
Autism	PMID: 19058789
Azoospermia	PMID: 16259065
Cancer	PMID: 20729852
Dry eye syndrome	PMID: 18619437
Embryo implantation failure	PMID: 17581677
Endometrial cancer	PMID: 27092881
Endometrial receptivity	PMID: 15971251
Endometriosis	PMID: 25155819
Hydrosalpinx	PMID: 23061681
Idiopathic male infertility	PMID: 21857689
Medullary cystic kidney disease 1	OMIM: 158340
Endometriosis	INFBASE25155819
Endometriosis associated infertility	INFBASE21429654
Polycystic ovary syndrome (PCOS)	INFBASE20826587
Female infertility	INFBASE20826587
Polycystic ovary syndrome (PCOS)	PMID: 20826587
Recurrent implantation failure (RIF)	PMID: 25747132
Unexplained recurrent pregnancy loss (RPL)	PMID: 22698642

PubMed references

PMID	Condition	Mutation	Population details	Infertility_type	Associated_genes	Abstract
25155819	Endometrio sis		54 (28 patients with endometri osis, 26 contro ls)	Female infertility	MUC1 PR-B	Show abstract
20826587	Endometrio sis		99 (33 fertile patients, 26 ov ulatory PCOS pa tients, 15 anov ulatory PCOS pa tients, and 25 endometriosis p atients)	Female infertility	ER PR HSD1 and HSD2	Show abstract
21429654	Endometrio sis	rs1801133 of MTHFR and rs4244593 of PEMT	313 (163 women with endometrio sis, 150 contro ls)	Female infertility	BHMT BHMT2 CBS CHDH CHKA MTHFD1 MTHFR MTR MTRR PCYT1A PEMT TCN	Show abstract