• Gene id: 56667

Gene Summary

• Gene Symbol: MUC13   Gene   UCSC   Ensembl
• Aliases: DRCC1, MUC-13
• Gene name: mucin 13, cell surface associated
• Alternate names: mucin-13, down-regulated in colon cancer 1, mucin 13, epithelial transmembrane,
• Gene location: 3q21.2 (124934750: 124905441)     Exons: 12     NC_000003.12
• Gene summary(Entrez): 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]
• OMIM: 612181

Protein Summary

• Protein general information: Q9H3R2  
  • Name: Mucin 13 (MUC 13) (Down regulated in colon cancer 1)
  • Length: 512  
  • Mass: 54,604
• Sequence:

  MKAIIHLTLLALLSVNTATNQGNSADAVTTTETATSGPTVAAADTTETNFPETASTTANTPSFPTATSPAPPIIS
  THSSSTIPTPAPPIISTHSSSTIPIPTAADSESTTNVNSLATSDIITASSPNDGLITMVPSETQSNNEMSPTTED
  NQSSGPPTGTALLETSTLNSTGPSNPCQDDPCADNSLCVKLHNTSFCLCLEGYYYNSSTCKKGKVFPGKISVTVS
  ETFDPEEKHSMAYQDLHSEITSLFKDVFGTSVYGQTVILTVSTSLSPRSEMRADDKFVNVTIVTILAETTSDNEK
  TVTEKINKAIRSSSSNFLNYDLTLRCDYYGCNQTADDCLNGLACDCKSDLQRPNPQSPFCVASSLKCPDACNAQH
  KQCLIKKSGGAPECACVPGYQEDANGNCQKCAFGYSGLDCKDKFQLILTIVGTIAGIVILSMIIALIVTARSNNK
  TKHIEEENLIDEDFQNLKLRSTGFTNLGAEGSVFPKVRITASRDSQMQNPYSRHSSMPRPDY

• Structural information:
  • Protein Domains: EGF-like (173-211)
    SEA. (212-336)
    EGF-like (322-361)
    EGF-like (363-404)
  • Interpro: IPR013032  IPR000742  IPR009030  IPR000082  
  • Prosite: PS01186 PS50026 PS50024
  • STRING: ENSP00000312235
• Other Databases: GeneCards:  MUC13  Malacards:  MUC13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IDA	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005829	cytosol	IMP	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016266	O-glycan processing	TAS	biological process
GO:0016266	O-glycan processing	TAS	biological process
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0030277	maintenance of gastrointestinal epithelium	IMP	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005829	cytosol	IMP	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016266	O-glycan processing	TAS	biological process
GO:0016266	O-glycan processing	TAS	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0030277	maintenance of gastrointestinal epithelium	IMP	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005829	cytosol	IMP	cellular component
GO:0016266	O-glycan processing	TAS	biological process
GO:0016266	O-glycan processing	TAS	biological process
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0030277	maintenance of gastrointestinal epithelium	IMP	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component

Diseases

Associated diseases	References
Spermatogenesis defects	MIK: 16259065
Azoospermia	MIK: 16259065
Spermatogenesis defects	MIK: 16259065
Azoospermia	MIK: 16259065
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
16259065	Spermatogenesis, Azoospermia			30 (13 normal spermatogenesis, 17 impaired spermatogenesis)	Male infertility	mucin1 mucin9 and mucin13
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)