Version 5.4
Homo sapiens Gene: MUC1
Summary
InnateDB Gene IDBG-103122.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MUC1
Gene Name mucin 1, cell surface associated
Synonyms 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
Species Homo sapiens
Ensembl Gene ENSG00000185499
Encoded Proteins
IDBP-103124
mucin 1, cell surface associated
IDBP-103126
mucin 1, cell surface associated
IDBP-103130
mucin 1, cell surface associated
IDBP-103132
mucin 1, cell surface associated
IDBP-103138
mucin 1, cell surface associated
IDBP-103142
mucin 1, cell surface associated
IDBP-103144
mucin 1, cell surface associated
IDBP-103148
mucin 1, cell surface associated
IDBP-103152
mucin 1, cell surface associated
IDBP-103156
mucin 1, cell surface associated
IDBP-388861
mucin 1, cell surface associated
IDBP-388864
mucin 1, cell surface associated
IDBP-811932
mucin 1, cell surface associated
IDBP-811933
mucin 1, cell surface associated
IDBP-812013
mucin 1, cell surface associated
IDBP-811953
mucin 1, cell surface associated
IDBP-811954
mucin 1, cell surface associated
IDBP-811955
mucin 1, cell surface associated
IDBP-811931
mucin 1, cell surface associated
IDBP-811940
mucin 1, cell surface associated
IDBP-811987
mucin 1, cell surface associated
IDBP-811988
mucin 1, cell surface associated
IDBP-811989
mucin 1, cell surface associated
IDBP-812011
mucin 1, cell surface associated
IDBP-812017
mucin 1, cell surface associated
IDBP-812040
mucin 1, cell surface associated
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
PMID 20375631
MUC1 regulates innate immune responses of dendritic cells (DC) where deletion of MUC1 promotes a heightened functional response of DC in response to TLR4 and TLR5 signalling pathways.
PMID 21868711
MUC1 controls the inflammatory response in airway epithelial cells during nontypeable Haemophilus influenzae infection, mainly through suppression of TLR2 signalling and decreased IL8 production. (Demonstrated in murine model)
InnateDB Annotation from Orthologs
Summary
PMID 21868711
[Mus musculus] Muc1 controls the inflammatory response in airway epithelial cells during nontypeable Haemophilus influenzae infection, mainly through suppression of Tlr2 signalling and decreased Il8 production.
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:155185824-155192916
Strand Reverse strand
Band q22
Transcripts
ENST00000337604 ENSP00000338983
ENST00000368398 ENSP00000357383
ENST00000343256 ENSP00000339690
ENST00000368396 ENSP00000357381
ENST00000368393 ENSP00000357378
ENST00000368392 ENSP00000357377
ENST00000338684 ENSP00000343482
ENST00000368390 ENSP00000357375
ENST00000342482 ENSP00000342814
ENST00000368389 ENSP00000357374
ENST00000457295 ENSP00000388172
ENST00000438413 ENSP00000389098
ENST00000462317 ENSP00000479471
ENST00000485118 ENSP00000478068
ENST00000462215 ENSP00000480335
ENST00000498431 ENSP00000483128
ENST00000467134 ENSP00000484006
ENST00000471283 ENSP00000484730
ENST00000468978
ENST00000466913
ENST00000620103 ENSP00000481231
ENST00000610468 ENSP00000482688
ENST00000620770
ENST00000612778 ENSP00000484824
ENST00000615517 ENSP00000483473
ENST00000610359 ENSP00000483482
ENST00000611571 ENSP00000480333
ENST00000614519 ENSP00000482988
ENST00000611577 ENSP00000483581
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 69 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 69 [view]
Protein-Protein 67 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0002039 p53 binding
GO:0003712 transcription cofactor activity
GO:0005515 protein binding
Biological Process
GO:0001666 response to hypoxia
GO:0001701 in utero embryonic development
GO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
GO:0006978 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator
GO:0007565 female pregnancy
GO:0010944 negative regulation of transcription by competitive promoter binding
GO:0016266 O-glycan processing
GO:0030855 epithelial cell differentiation
GO:0036003 positive regulation of transcription from RNA polymerase II promoter in response to stress
GO:0043618 regulation of transcription from RNA polymerase II promoter in response to stress
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0045087 innate immune response (InnateDB)
GO:0071300 cellular response to retinoic acid
GO:0090240 positive regulation of histone H4 acetylation
GO:1902166 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
Cellular Component
GO:0000790 nuclear chromatin
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005796 Golgi lumen
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009986 cell surface
GO:0016324 apical plasma membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000042784
View Gene Order
ENSBTAG00000017104
Not yet available
Pathways
NETPATH
NetPath_11
TCR pathway
REACTOME
REACT_115835
Termination of O-glycan biosynthesis pathway
REACT_115606
O-linked glycosylation of mucins pathway
REACT_22161
Post-translational protein modification pathway
REACT_200727
O-linked glycosylation pathway
REACT_17015
Metabolism of proteins pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL A6ZIE3 Q14877
UniProt Splice Variant
Entrez Gene 4582
UniGene
RefSeq NM_001018016 NM_001018017 NM_001044390 NM_001044391 NM_001044392 NM_001044393 NM_001204285 NM_001204286 NM_001204287 NM_001204288 NM_001204289 NM_001204290 NM_001204291 NM_001204292 NM_001204293 NM_001204294 NM_001204295 NM_001204296 NM_001204297 NM_002456
HUGO HGNC:7508
OMIM 113720 158340
CCDS CCDS1098 CCDS30882 CCDS30883 CCDS41408 CCDS41409 CCDS55640 CCDS55641 CCDS55642 CCDS72933 CCDS72934 CCDS72935 CCDS72936
HPRD
IMGT
EMBL EF670715 L38597
GenPept AAA57348 ABS01302
RNA Seq Atlas 4582

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca