MUC1 (mucin 1, cell surface associated)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 4582
Gene name Mucin 1, cell surface associated
Gene symbol MUC1
Synonyms (NCBI Gene)
ADMCKDADMCKD1ADTKD2CA 15-3CD227Ca15-3EMAH23AGKL-6MAM6MCDMCKDMCKD1MUC-1MUC-1/SECMUC-1/XMUC1/ZDPEMPEMTPUM
Chromosome 1
Chromosome location 1q22
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
miRNA miRNA information provided by mirtarbase database.
32
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 ReviewLuciferase reporter assayWestern blot 20407606
MIRT000426 hsa-miR-145-5p ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot 19996288
MIRT005492 hsa-miR-1226-3p ImmunoblotLuciferase reporter assayqRT-PCR 20514397
MIRT005492 hsa-miR-1226-3p ImmunoblotLuciferase reporter assayqRT-PCR 20514397
MIRT005492 hsa-miR-1226-3p ImmunoblotLuciferase reporter assayqRT-PCR 20514397
Transcription factors Transcription factors information provided by TRRUST V2 database.
11
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
158340 7508 ENSG00000185499
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Tubulointerstitial kidney disease, autosomal dominant, 2 Likely pathogenic; Pathogenic rs2527044406, rs2527049898, rs2526888534, rs1667142761 RCV003236627
RCV003990515
RCV003990623
RCV001281186
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (20)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DRY EYE SYNDROMES — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DUODENAL ULCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (571)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Kidney Tubular Necrosis Renal tubular necrosis BEFREE 29131245
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 28819740, 31727793
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 30593830
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Undifferentiated Leukemia Leukemia BEFREE 27347699
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 10341360, 10415872, 10687132, 10856797, 11051251, 11076872, 11127148, 11358826, 11391628, 11984004, 12000712, 12147624, 12210083, 12941828, 15513966
View all (43 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 15489654, 15893750, 15944787, 16707592, 17401217, 17409826, 18094420, 18154934, 18713982
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 30048777
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of duodenum Adenocarcinoma Of Duodenum BEFREE 30763811, 31102323
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 12571627, 18154934, 28212575
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 30048777
★★★★★
★☆☆☆☆
Found in Text Mining only