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    MUC13 mucin 13, cell surface associated [ Homo sapiens (human) ]

    Gene ID: 56667, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MUC13provided by HGNC
    Official Full Name
    mucin 13, cell surface associatedprovided by HGNC
    Primary source
    HGNC:HGNC:7511
    See related
    Ensembl:ENSG00000173702 MIM:612181; AllianceGenome:HGNC:7511
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DRCC1; MUC-13
    Summary
    Epithelial mucins, such as MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008]
    Expression
    Biased expression in duodenum (RPKM 317.3), small intestine (RPKM 271.9) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MUC13 in Genome Data Viewer
    Location:
    3q21.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (124905442..124934751, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (127630861..127660325, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (124624289..124653595, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene integrin subunit beta 5 Neighboring gene uncharacterized LOC124906277 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:124545465-124546128 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:124546129-124546792 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:124548121-124548784 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:124548785-124549448 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:124552923-124553422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20406 Neighboring gene Sharpr-MPRA regulatory region 831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20407 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:124561149-124561650 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:124561651-124562150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:124564159-124564658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:124577655-124578192 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:124587550-124588050 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:124588051-124588551 Neighboring gene Sharpr-MPRA regulatory region 8988 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:124604052-124604936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14655 Neighboring gene enolase 1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14656 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:124606705-124607587 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:124607588-124608472 Neighboring gene NANOG hESC enhancer GRCh37_chr3:124626617-124627118 Neighboring gene Sharpr-MPRA regulatory region 13474 Neighboring gene heart development protein with EGF like domains 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:124720175-124721374 Neighboring gene Sharpr-MPRA regulatory region 1791 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:124762717-124763230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20408 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14657 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14658 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14659 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20409 Neighboring gene RNA, 5S ribosomal pseudogene 137

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. MUC13 negatively regulates tight junction proteins and intestinal epithelial barrier integrity via protein kinase C. Segui-Perez C, et al. J Cell Sci, 2024 Mar 1. PMID 38345099, Free PMC Article
    2. Overexpression of MUC13 is associated with intestinal-type gastric cancer. Shimamura T, et al. Cancer Sci, 2005 May. PMID 15904467, Free PMC Article
    3. Expression and functions of transmembrane mucin MUC13 in ovarian cancer. Chauhan SC, et al. Cancer Res, 2009 Feb 1. PMID 19176398
    4. Mucin 13: structure, function, and potential roles in cancer pathogenesis. Maher DM, et al. Mol Cancer Res, 2011 May. PMID 21450906, Free PMC Article
    5. MUC13 mucin augments pancreatic tumorigenesis. Chauhan SC, et al. Mol Cancer Ther, 2012 Jan. PMID 22027689, Free PMC Article

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GCNT3 regulated MUC13 to promote the development of hepatocellular carcinoma through the GSK3beta/beta-catenin pathway.
      Title: GCNT3 regulated MUC13 to promote the development of hepatocellular carcinoma through the GSK3β/β-catenin pathway.
    2. MUC13 negatively regulates tight junction proteins and intestinal epithelial barrier integrity via protein kinase C.
      Title: MUC13 negatively regulates tight junction proteins and intestinal epithelial barrier integrity via protein kinase C.
    3. MUC13 drives cancer aggressiveness and metastasis through the YAP1-dependent pathway.
      Title: MUC13 drives cancer aggressiveness and metastasis through the YAP1-dependent pathway.
    4. Long noncoding RNA BBOX1-AS1 promotes the progression of gastric cancer by regulating the miR-361-3p/Mucin 13 signaling axis.
      Title: Long noncoding RNA BBOX1-AS1 promotes the progression of gastric cancer by regulating the miR-361-3p/Mucin 13 signaling axis.
    5. MUC13 promotes intrahepatic cholangiocarcinoma progression via EGFR/PI3K/AKT pathways.
      Title: MUC13 promotes intrahepatic cholangiocarcinoma progression via EGFR/PI3K/AKT pathways.
    6. Biophysical changes caused by altered MUC13 expression in pancreatic cancer cells.
      Title: Biophysical changes caused by altered MUC13 expression in pancreatic cancer cells.
    7. Cyst fluid MUC13 expression was significantly greater in high-risk intraductal papillary mucinous neoplasms.
      Title: Transmembrane mucin MUC13 distinguishes intraductal papillary mucinous neoplasms from non-mucinous cysts and is associated with high-risk lesions.
    8. High MUC13 expression is associated with colitis-associated colorectal tumors.
      Title: MUC13 promotes the development of colitis-associated colorectal tumors via β-catenin activity.
    9. Nuclear MUC13 expression positively correlated with nodal metastasis, invasion of cancer to peripheral tissues and poor patient survival in pancreatic ductal adenocarcinoma.
      Title: Clinical significance of MUC13 in pancreatic ductal adenocarcinoma.
    10. Overexpression of MUC13 plays a critical role in the development and progression of hepatocellular carcinoma by activating Wnt signaling.
      Title: Overexpression of MUC13, a Poor Prognostic Predictor, Promotes Cell Growth by Activating Wnt Signaling in Hepatocellular Carcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (31)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20063

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in maintenance of gastrointestinal epithelium IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    mucin-13
    Names
    down-regulated in colon cancer 1
    mucin 13, epithelial transmembrane

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_033049.4 → NP_149038.3  mucin-13 precursor

      See identical proteins and their annotated locations for NP_149038.3

      Status: VALIDATED

      Source sequence(s)
      AB035807, AF286113, AK000070, DA428072
      Consensus CDS
      CCDS33839.2
      UniProtKB/Swiss-Prot
      Q6UWD9, Q9H3R2, Q9NXT5
      Related
      ENSP00000485028.1, ENST00000616727.4
      Conserved Domains (2) summary
      TIGR04561
      Location:419 → 468
      membra_charge; integral membrane protein
      pfam01390
      Location:214 → 313
      SEA; SEA domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      124905442..124934751 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      127630861..127660325 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H3R2.3 GenPept UniProtKB/Swiss-Prot:Q9H3R2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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