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MUCL1 Gene

protein-coding   GIFtS: 43
GCID: GC12P055248

Mucin-Like 1

  See MUCL1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mucin-Like 11 2
Small Breast Epithelial Mucin1 2 3
SBEM2 3 5
Mucin-Like Protein 12
Protein BS1063

External Ids:    HGNC: 305881   Entrez Gene: 1184302   Ensembl: ENSG000001725517   OMIM: 6108575   UniProtKB: Q96DR83   

Export aliases for MUCL1 gene to outside databases

Previous GC identifers: GC12P053539 GC12P052287


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MUCL1 Gene:
MUCL1 (mucin-like 1) is a protein-coding gene. Diseases associated with MUCL1 include breast cancer.

UniProtKB/Swiss-Prot: MUCL1_HUMAN, Q96DR8
Function: May play a role as marker for the diagnosis of metastatic breast cancer

Gene Wiki entry for MUCL1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the MUCL1 gene promoter:
         FOXF2   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   CBF-C   E47   c-Rel   CBF-B   CBF-A   Hand1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMUCL1 promoter sequence
   Search Chromatin IP Primers for MUCL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MUCL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q   Ensembl cytogenetic band:  12q13.2   HGNC cytogenetic band: 12q13.2

MUCL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MUCL1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P055248:  view genomic region     (about GC identifiers)

Start:
55,224,303 bp from pter      End:
55,252,177 bp from pter
Size:
27,875 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MUCL1_HUMAN, Q96DR8 (See protein sequence)
Recommended Name: Mucin-like protein 1 precursor  
Size: 90 amino acids; 9039 Da
Secondary accessions: Q0VG95 Q32ZB5

Explore the universe of human proteins at neXtProt for MUCL1: NX_Q96DR8

Explore proteomics data for MUCL1 at MOPED

Post-translational modifications: 

  • O-glycosylated (Probable)1
  • Glycosylation2 at Thr23, Thr24, Thr30, Thr34, Thr46, Thr47, Thr51, Thr52, Thr54, Thr55,
                                 Thr59, Thr60, Thr62, Thr63, Ser66, Thr67, Thr68

  • See MUCL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_477521.1  
    ENSEMBL proteins: 
     ENSP00000449369   ENSP00000311364  
    Reactome Protein details: Q96DR8

    MUCL1 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for MUCL1 

     
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    MUCL1 Assay Products:

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    Search eBioscience for ELISAs for MUCL1 
    antibodies-online kits for MUCL1 (20 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q96DR8


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MUCL1_HUMAN, Q96DR8
    Function: May play a role as marker for the diagnosis of metastatic breast cancer

    Animal Models:

       genOway: Develop your customized and physiologically relevant rodent model for MUCL1

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    Predesigned siRNA for gene silencing in human, mouse, rat MUCL1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUCL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MUCL1_HUMAN, Q96DR8: Secreted (Probable). Membrane (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    golgi apparatus4

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005796Golgi lumen TAS--
    GO:0016020membrane IEA--

    Find genes that share ontologies with MUCL1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MUCL1 About    
    See pathways by source

    SuperPathContained pathways About
    1O-linked glycosylation of mucins
    O-linked glycosylation of mucins0.47
    Termination of O-glycan biosynthesis0.38
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30


    Find genes that share SuperPaths with MUCL1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for MUCL1
        O-linked glycosylation of mucins
    Termination of O-glycan biosynthesis


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MUCL1
    Interactions:

        Search GeneGlobe Interaction Network for MUCL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MUCL1 (ENSP000003113644) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MUC1ENSP000003389834STRING: ENSP00000338983
    MUC2ENSP000004151834STRING: ENSP00000415183
    MUC4ENSP000003042074STRING: ENSP00000304207
    B3GNT2ENSP000003055954STRING: ENSP00000305595
    B3GNT3ENSP000003218744STRING: ENSP00000321874
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016266O-glycan processing TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    Find genes that share ontologies with MUCL1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MUCL1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MUCL1 gene: 
    NM_058173.2  

    Unigene Cluster for MUCL1:

    Mucin-like 1
    Hs.348419  [show with all ESTs]
    Unigene Representative Sequence: DA245687
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000547990 ENST00000546809 ENST00000547958 ENST00000308796(uc001sgk.3)

    miRNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MUCL1
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat MUCL1
      QuantiFast Probe-based Assays in human, mouse, rat MUCL1

    Additional mRNA sequence: 

    AF414087.1 AY359062.1 BC111421.1 

    2 DOTS entries:

    DT.102655  DT.100741049 

    Selected AceView cDNA sequences (see all 36):

    AW291950 W72838 AI905633 AA340069 AY359062 BX487028 AI905624 AW070916 
    AF414087 NM_058173 W72837 BG202312 AW176044 BQ013778 AI139456 BG218084 
    AI905623 BE092421 BQ012550 BG185269 BQ013284 BF742809 BG202313 BE926938 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MUCL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTCCTGTGA
    MUCL1 Expression
    About this image

    MUCL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MUCL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.348419

    UniProtKB/Swiss-Prot: MUCL1_HUMAN, Q96DR8
    Tissue specificity: Expressed in mammary, salivary glands and prostate. Also detected in lung. Mainly expressed in
    cancer cell lines of breast origin. Highly expressed in lymph node-positive compared with node-negative tumors.
    Detected in all lymph node containing metastatic cells

        Custom PCR Arrays for MUCL1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUCL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for MUCL1 gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mucl15 mucin-like 1   --   15 103752063 


    ENSEMBL Gene Tree for MUCL1 (if available)
    TreeFam Gene Tree for MUCL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    MUCL1_HUMAN, Q96DR8: The number of repeats varies from 3 to 2 in one variant form which is equally present in breast
    cancer tumors


    Selected SNPs for MUCL1 (see all 206)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs574920461,2
    C,F--55246363(+) CACTGG/TGCAGT 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs108766341,2
    C,F,A,H--55246365(+) CTGTGA/CAGTTT 1 -- us2k15Minor allele frequency- C:0.41NA CSA EA 248
    rs1859009361,2
    --55246381(+) TCTTAA/GGGGGA 1 -- us2k10--------
    rs1434207691,2
    C--55246398(+) CTGATA/GCATAT 1 -- us2k10--------
    rs1467281001,2
    --55246406(+) TATGTG/TTAATC 1 -- us2k10--------
    rs1924226121,2
    --55246412(+) TAATCA/TTTTTT 1 -- us2k10--------
    rs1819227541,2
    --55246449(+) GTCTGC/TGTGGT 1 -- us2k10--------
    rs1862630211,2
    --55246580(+) CCCTAC/TGGGGT 1 -- us2k10--------
    rs1904690171,2
    C--55246584(+) ACGGGG/TTATAA 1 -- us2k10--------
    rs1826792121,2
    C--55246606(+) CTGTCC/TTTTAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MUCL1 (55224303 - 55252177 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MUCL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv516882CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MUCL1
    DNA2.0 Custom Variant and Variant Library Synthesis for MUCL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610857    OMIM disorders: --

    1 disease for MUCL1:    
    About MalaCards
    breast cancer


    Find genes that share disorders with MUCL1           About GenesLikeMe

    7 Novoseek inferred disease relationships for MUCL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 50.2 40 19221791 (7), 20364301 (6), 16004812 (5), 18269587 (3) (see all 7)
    breast cancer metastatic 45.6 1 12019145 (1)
    carcinoma ductal 44.5 2 12019145 (1), 15785316 (1)
    primary tumor 27.2 2 12019145 (1), 16004812 (1)
    cancer 22.4 6 18269587 (2), 18497056 (1), 18253069 (1), 20364301 (1)
    metastasis 20.3 5 12019145 (2), 20364301 (1)
    tumors 10.6 8 12019145 (2), 15684711 (1), 16720387 (1), 18497056 (1) (see all 6)


    Export disorders for MUCL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MUCL1 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with MUCL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel breast- and salivary gland-specific, mucin- like gene strongly expressed in normal and tumor human mammary epithelium. (PubMed id 12019145)1, 2, 3, 9 Miksicek R.J....Leygue E. (Cancer Res. 2002)
    2. Identification of MGB1 as a marker in the differential diagnosis of lung tumors in patients with a history of breast cancer by analysis of publicly available SAGE data. (PubMed id 15096563)1, 2, 9 Koga T.... Yatabe Y. (J. Mol. Diagn. 2004)
    3. Serological identification of breast cancer-related antigens from a Saccharomyces cerevisiae surface display library. (PubMed id 15880534)1, 2, 9 Wadle A....Renner C. (Int. J. Cancer 2005)
    4. Human small breast epithelial mucin: the promise of a new breast tumor biomarker. (PubMed id 15684711)1, 2, 9 Hube F.... Myal Y. (DNA Cell Biol. 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 2004)
    7. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    8. In silico and in vitro analysis of small breast epithelial mucin as a marker for bone marrow micrometastasis in breast cancer. (PubMed id 18497056)1, 9 Ayerbes M.V....Aparicio L.A. (Adv. Exp. Med. Biol. 2008)
    9. Small breast epithelial mucin (SBEM) has the potential to be a marker for predicting hematogenous micrometastasis and response to neoadjuvant chemotherapy in breast cancer. (PubMed id 20364301)1, 9 Liu Z.Z....Wang Y.K. (amp 2010)
    10. Diagnostic accuracy of small breast epithelial mucin mRNA as a marker for bone marrow micrometastasis in breast cancer: a pilot study. (PubMed id 19221791)1, 9 Valladares-Ayerbes M....AntA^n-Aparicio L.M. (J. Cancer Res. Clin. Oncol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 118430 HGNC: 30588 AceView: LOC118430 Ensembl:ENSG00000172551 euGenes: HUgn118430
    ECgene: MUCL1 H-InvDB: MUCL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MUCL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MUCL1 gene:
    Search GeneIP for patents involving MUCL1

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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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     Browse ESI BIO Cell Lines and PureStem Progenitors for MUCL1
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