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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
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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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