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FLASH GENE
Symbol MUC1 contributors: mct - updated : 17-06-2014
HGNC name mucin 1, cell surface associated
HGNC id 7508
Corresponding disease
MCKD1 medullary cystic kidney disease 1
Location 1q22      Physical location : 155.158.301 - 155.162.700
Synonym name
  • mucin 1, transmembrane
  • peanut lectin binding, episialin
  • polymorphic epithelial mucin
  • breast carcinoma-associated antigen DF3
  • tumor-associated epithelial membrane antigen
  • peanut-reactive urinary mucin
  • polymorphic epithelial mucin
  • H23 antigen
  • DF3 antigen
  • episialin
  • CD227 antigen
  • Synonym symbol(s) PUM, CD227, EMA, PEM, H23AG, MAM6, PEMT, KL-6, MUC-1/SEC, MUC1/ZD
    DNA
    TYPE functioning gene
    STRUCTURE 4.40 kb     8 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    motif repetitive sequence
    text structure tandem repeat
    MAPPING cloned Y linked Y status confirmed
    Physical map
    PMVK 1p13-q23 phosphomevalonate kinase PBXIP1 1q22 pre-B-cell leukemia transcription factor interacting protein 1 PYGO2 1q22 pygopus 2 SHC1 1q21 SHC (Src homology 2 domain containing) transforming protein 1 CKS1B 1q21.2 CDC28 protein kinase regulatory subunit 1B PP591 1q22 FAD-synthetase LENEP 1q22 lens epithelial protein ZFP67 1q21.2 zinc finger protein 67 homolog (mouse) FLJ32934 1q22 hypothetical protein FLJ32934 FLJ32785 1q22 hypothetical protein FLJ32785 ADAM15 1q21.3 a disintegrin and metalloproteinase domain 15 (metargidin) EFNA4 1q21-q22 ephrin-A4 EFNA3 1q21-q22 ephrin-A3 EFNA1 1q21-q22 ephrin-A1 LOC55974 1q22 stromal cell protein DPM3 1q21.2 dolichyl-phosphate mannosyltransferase polypeptide 3 KCP2 TRIM46 1q21-22 tripartite motif-containing 46 MUC1 1q21 mucin 1, transmembrane THBS3 1q21-q23 thrombospondin 3 MTX1 1q21 metaxin 1 LOC388704 1 similar to GBA protein MTX1P 1q21 metaxin 1 pseudogene GBA 1q21 glucosidase, beta; acid (includes glucosylceramidase) C1orf2 1q21 chromosome 1 open reading frame 2 SCAMP3 1q21 secretory carrier membrane protein 3 CLK2 1q21 CDC-like kinase 2 HCN3 1q22 hyperpolarization activated cyclic nucleotide-gated potassium channel 3 PKLR 1q21 pyruvate kinase, liver and RBC FDPS 1q21.2 farnesyl diphosphate synthase (farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase) FLJ35976 1q22 hypothetical protein FLJ35976 RUSC1 1q21-q22 RUN and SH3 domain containing 1 ASH1L 1q21 ash1 (absent, small, or homeotic)-like (Drosophila)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 splicing 1209 - 273 in tissues as an oligomeric complex composed of monomers linked by disulfide bonds contributed by MUC1/ZD cysteine AAs 2012 23193156
  • also called MUC-1/ZD mucin short variant
  • C-terminal 43AAs are novel and result from a reading frameshift engendered by a splicing event that forms MUC1/ZD
  • generated by an alternative splicing event that both deletes the tandem-repeat array and leads to a C-terminal reading frameshift
  • 8 splicing 1182 - 264 - 2012 23193156
    also called MUC1/Y or short variant Y
    8 - 1155 - 255 - 2012 23193156
    7 - 973 - 158 - 2012 23193156
    5 - 873 - 159 - 2012 23193156
    5 - 846 - 150 - 2012 23193156
    7 - 1005 - 203 - 2012 23193156
    7 - 1091 - 230 - 2012 23193156
    7 - 1098 - 198 - 2012 23193156
    8 - 1826 - 475 - 2012 23193156
    7 - 1115 - 238 - 2012 23193156
    7 - 1124 - 241 - 2012 23193156
    7 - 1118 - 239 - 2012 23193156
    7 - 1037 - 212 - 2012 23193156
    6 - 968 - 189 - 2012 23193156
    8 - 1161 - 219 - 2012 23193156
    5 - 932 - 177 - 2012 23193156
    8 - 1247 - 282 - 2012 23193156
    8 - 1853 - 484 - 2012 23193156
    - - 1052 - 217 - 2012 23193156
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    Reproductivefemale systembreast   
     male systemprostate   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/lininguroepithelium  
    Epithelialsecretoryglandularendocrine 
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text the metanephric blastema and throughout fetal life in the ureteric buds, distal convoluted tubules, and collecting ducts
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal subunit is a large extracellular subunit (>250 kDa) consisting of variable numbers of 20-AA tandem repeats that are extensively linked hundreds of O-glycans
  • one SEA domain
  • a heavily O-glycosylated mucin-like domain with a variable number of nearly perfect tandem repeats and adjacent imperfect repeats, that constitute an apical targeting signal
  • MUC1 extracellular subunit (MUC1-N) is located in nuclear speckles (interchromatin granule clusters) and closely associates with the spliceosome protein U2AF65
  • a cytoplasmic domain (MUC1-CD), the minimal functional unit of MUC1, contributing to the malignant phenotype in cells by binding directly to beta-catenin, and having a critical role in the development of mammary gland preneoplasia and tumorigenesis
  • C-terminal receptor subunit (MUC1-C), cytoplasmic domain, promoting STAT3 activation and MUC1-C and STAT3 function in an autoinductive loop that may play a role in cancer cell survival , C-terminal transmembrane subunit consists of a 58 AA extracellular domain, a 28 AA transmembrane domain, and a 72 AA cytoplasmic domain (CD)
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • mucin family
  • CATEGORY secretory , protooncogene
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    intracellular,nucleus,chromatin/chromosome
    intracellular,nucleus,nucleolus
    text
  • transmembrane mucin glycoprotein
  • MUC1-N translocates to the nucleus where it is expressed in nuclear speckles and MUC1-N and MUC1-C have dissimilar intranuclear distribution patterns
  • normally expressed on the apical borders of secretory epithelial cells
  • basic FUNCTION
  • may be playing a role in adhesive functions and in cell-cell interactions, metastasis and signaling
  • inducing cellular transformation
  • involved in in renal morphogenesis processes
  • playing a critical role in embryo implantation, protection of mucosal epithelia from microbial and enzymic attack and various aspects of tumour progression
  • stabilizes Bcr-Abl and contributes to the pathogenesis of chronic myelogenous leukemia cells by promoting self renewal and inhibiting differentiation and apoptosis
  • activates the beta-catenin and NF-kappaB pathways in multiple myeloma cells and contributes to their growth and survival
  • cooperating oncoprotein with multiple oncogenic tyrosine kinase pathways
  • direct activator of RELA and an inhibitor of MUC1 function is effective in blocking activation of the NF-kappaB pathway
  • regulates nuclear localization and function of the epidermal growth factor receptor
  • direct role of the MUC1 in initiating epithelial to mesenchymal transition during pancreatic cancer
  • may be involved in human nephrogenesis and may play a relevant role in mesenchymal-epithelial transition from the cap mesenchyme to the renal vesicle, changing the fate of renal stem/progenitor cells
  • is an immunoregulatory protein of T cells capable of giving a positive or negative stimulus
  • acts as a master regulator of the metabolic program in pancreatic cancer
  • pivotal role of MUC1 in controlling the hypoxia-driven angiogenesis through the regulation of multiple proangiogenic factors in pancreatic cancer
  • inhibit apoptosis induced by genotoxic agents
  • can inhibit apoptosis via activating MAPK8 pathway in response to genotoxic anticancer agents
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • protein constituent of membrane
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding of the MUC1 C-Terminus to CAMLG in human epithelial cells, and possible biological significance of the MUC1-CAMLG interaction
  • interacting with STAT3 (constitutively activated STAT3 regulates expression of MUC1, which mediates lung cancer cell survival and metastasis)
  • substrate for gamma-secretase
  • MUC1 and EGFR interact in the nucleus of breast cancer cells, which promotes the accumulation of chromatin-bound EGFR
  • dynamic interplay among cytokine-activated transcription factors, progesterone receptor isoforms and transcriptional coregulators in modulating MUC1 expression
  • LGALS3-dependent regulation of MUC1/EGFR functions may represent an interesting mechanism modulating the EGFR-stimulated cell growth of pancreatic cancer cells
  • association of MUC1 with PDGFA and MUC1 regulates the expression and secretion of PDGFA
  • PPARG inhibits airway epithelial cell inflammatory response through a MUC1-dependent mechanism
  • associates with BAX in human cancer cells (binds directly to the BAX BH3 domain and thereby blocks BAX function in activating the mitochondrial death pathway)
  • MUC1 acts as a modulator of the hypoxic response in pancreatic cancer cells by regulating the expression/stability and activity of HIF1A
  • interrelationship between MUC1–HIF1A oncogenic signaling networks serves to facilitate tumor growth and metastasis
  • MUC1 drives MET-dependent migration and scattering
  • SIGLEC9 expressed on immune cells may play a role as a potential counterreceptor for MUC1 and this signaling may be another MUC1-mediated pathway and function in parallel with a growth factor-dependent pathway
  • binds to and activates MAPK8
  • promotes FLT3 receptor activation in acute myeloid leukemia cells
  • PPARG, an E3 ubiquitin ligase, is an inhibitor of MUC1-mediated cell proliferation, and induces MUC1 ubiquitination and degradation that is critical to terminate MUC1 signaling pathway-elicited cancer
  • interactions between CTNND1 and MUC1, and these interactions modulate dynamic properties of cell adhesion, motility, and metastasis of pancreatic cancer cells
  • cell & other
  • ligand for Helicobacter pylori where it plays a role in gastric carcinogenesis
  • REGULATION
    activated by overexpressed by hypoxia and contributes to hypoxia-driven angiogenesis
    ASSOCIATED DISORDERS
    corresponding disease(s) MCKD1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in esophageal squamous-cell carcinoma with poor prognosis
    tumoral     --over  
    in endometrial adenocarcinomas
    tumoral     --over  
    in hepatocellular and cholangiocarcinoma
    constitutional     --over  
    in severe preeclamptic placentas and MUC1 overexpression suppresses extravillous trophoblast (EVT) invasion mainly via modulating beta1-integrin signaling (
    tumoral     --over  
    in up to 90 p100 of breast carcinomas
    tumoral     --other  
    expression of aberrantly glycosylated Mucin-1 in ovarian cancer
    tumoral     --over  
    aberrantly overexpressed in human breast cancer and other cancers
    tumoral     --over  
    in several carcinomas including pancreatic adenocarcinoma
    Susceptibility to the development of intestinal metaplasia preceding gastric carcinoma
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    inhibition of MUC1-C represents a potential therapeutic approach to induce terminal differentiation of acute myelogenous leukemia cells
    cancerlung 
    could be an effective target for the treatment of lung cancer.
    cancerdigestiveoesophagus
    MUC1 and MUC4 may be attractive targets for the selection of treatment methods in oral squamous cell carcinoma (OSCC)
    ANIMAL & CELL MODELS