MUC1 (mucin 1, cell surface associated)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4582
Gene name Gene Name - the full gene name approved by the HGNC.
Mucin 1, cell surface associated
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MUC1
Synonyms (NCBI Gene) Gene synonyms aliases
ADMCKD, ADMCKD1, ADTKD2, CA 15-3, CD227, Ca15-3, EMA, H23AG, KL-6, MAM6, MCD, MCKD, MCKD1, MUC-1, MUC-1/SEC, MUC-1/X, MUC1/ZD, PEM, PEMT, PUM
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q22
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(32)
miRTarBase ID miRNA Experiments Reference
MIRT000426 hsa-miR-145-5p Review, Luciferase reporter assay, Western blot 20407606
MIRT000426 hsa-miR-145-5p Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot 19996288
MIRT005492 hsa-miR-1226-3p Immunoblot, Luciferase reporter assay, qRT-PCR 20514397
MIRT005492 hsa-miR-1226-3p Immunoblot, Luciferase reporter assay, qRT-PCR 20514397
MIRT005492 hsa-miR-1226-3p Immunoblot, Luciferase reporter assay, qRT-PCR 20514397
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
Transcription factor Regulation Reference
AR Repression 21308711
GATA1 Unknown 17078870
GATA3 Activation 17078870
HIF1A Unknown 19141292
PIAS1 Repression 17717071
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(25)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 15710329
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 15710329
GO:0002039 Function P53 binding IPI 15710329
GO:0003712 Function Transcription coregulator activity IDA 15710329
GO:0005515 Function Protein binding IPI 16888623, 21258405, 21798038, 22962849, 24043631, 24658140, 31980649, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
158340 7508 ENSG00000185499
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P15941
Protein 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
Protein 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.; The beta subunit contains a C-terminal d
PDB 1SM3 , 2ACM , 2FO4 , 5T6P , 5T78 , 6FZQ , 6FZR , 6KX1 , 6TGG , 7Q4I , 7V4W , 7V64 , 7V7K , 7V8Q , 7VAC , 7VAZ , 8AXH , 8P6I
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01390 SEA 1041 → 1137 SEA domain Family
Tissue specificity 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 
MTPGTQSPFFLLLLLTVLTVVTGSGHASSTPGGEKETSATQRSSVPSSTEKNAVSMTSSV
LSSHSPGSGSSTTQGQDVTLAPATEPASGSAATWGQDVTSVPVTRPALGSTTPPAHDVTS
APDNKPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTS
APDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTS
APDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTS
APDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTS
APDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTS
APDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTS
APDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTS
APDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTS
APDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTS
APDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTS
APDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTS
APDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTS
APDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTS
APDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDNRPALGSTAPPVHNVTS
ASGSASGSASTLVHNGTSARATTTPASKSTPFSIPSHHSDTPTTLASHSTKTDASSTHHS
SVPPLTSSNHSTSPQLSTGVSFFFLSFHISNLQFNSSLEDPSTDYYQELQRDISEMFLQI
YKQGGFLGLSNIKFRPGSVVVQLTLAFREGTINVHDVETQFNQYKTEAASRYNLTISDVS
VSDVPFPFSAQSGAGVPGWGIALLVLVCVLVALAIVYLIALAVCQCRRKNYGQLDIFPAR
DTYHPMSEYPTYHTHGRYVPPSSTDRSPYEKVSAGNGGSSLSYTNPAVAATSANL
Sequence length 1255
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC)
Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS)
Defective GALNT12 causes colorectal cancer 1 (CRCS1)
Dectin-2 family
Interleukin-4 and Interleukin-13 signaling
O-linked glycosylation of mucins
Termination of O-glycan biosynthesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Gout Gout N/A N/A GWAS
Parkinson disease Parkinson disease N/A N/A GWAS
Tubulointerstitial Kidney Disease tubulointerstitial kidney disease, autosomal dominant, 2 N/A N/A GenCC
Show/Hide Text Mining Associations (323)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Inhibit 22698642
Abortion Spontaneous Associate 22698642
Abscess Stimulate 16924127
Acrospiroma Associate 18483372
Acute Lung Injury Associate 12959931
Acute Lung Injury Inhibit 35910848
Adenocarcinoma Associate 11076872, 11836704, 15378790, 19365631, 21912664, 21964914, 22027009, 22384115, 23845471, 25973571, 25989273, 26057631, 27481516, 28212575, 31545446
View all (4 more)
Adenocarcinoma Stimulate 17401217, 18080919, 26898938
Adenocarcinoma Bronchiolo Alveolar Associate 18161663
Adenocarcinoma in Situ Associate 17090193, 3384986