Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    MUC6 mucin 6, oligomeric mucus/gel-forming [ Homo sapiens (human) ]

    Gene ID: 4588, updated on 22-Oct-2017
    Official Symbol
    MUC6provided by HGNC
    Official Full Name
    mucin 6, oligomeric mucus/gel-formingprovided by HGNC
    Primary source
    HGNC:HGNC:7517
    See related
    Ensembl:ENSG00000184956 MIM:158374; Vega:OTTHUMG00000165140
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MUC-6
    Summary
    This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. [provided by RefSeq, Dec 2016]
    Orthologs
    Location:
    11p15.5
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (1012824..1036706, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1012824..1036706, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene chitinase domain containing 1 Neighboring gene adaptor related protein complex 2 alpha 2 subunit Neighboring gene RNA, U6 small nuclear 1025, pseudogene Neighboring gene uncharacterized LOC101927503 Neighboring gene uncharacterized LOC107987157

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • C-type lectin receptors (CLRs), organism-specific biosystem (from REACTOME)
      C-type lectin receptors (CLRs), organism-specific biosystemPathogen recognition is central to the induction of T cell differentiation. Groups of pathogens share similar structures known as pathogen-associated molecular patterns (PAMPs), which are recognised ...
    • Dectin-2 family, organism-specific biosystem (from REACTOME)
      Dectin-2 family, organism-specific biosystemDendritic cell-associated C-type lectin-2 (Dectin-2) family of C-type lectin receptors (CLRs) includes Dectin-2 (CLEC6A), blood dendritic antigen 2 (BDCA2/CLEC4C), macrophage C-type lectin (MCL/CLEC4...
    • Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS), organism-specific biosystem (from REACTOME)
      Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS), organism-specific biosystemGlycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 (C1GALT1; MIM:610555) mediates the transfer of Galactose (Gal) from UDP-galactose to single O-linked GalNAc residues (Tn antigens) to...
    • Defective GALNT12 causes colorectal cancer 1 (CRCS1), organism-specific biosystem (from REACTOME)
      Defective GALNT12 causes colorectal cancer 1 (CRCS1), organism-specific biosystemThe family of UDP GalNAc:polypeptide N acetylgalactosaminyltransferases (GalNAc transferases, GALNTs) carry out the addition of N acetylgalactosamine on serine, threonine or possibly tyrosine residue...
    • Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC), organism-specific biosystem (from REACTOME)
      Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC), organism-specific biosystemThe family of UDP GalNAc:polypeptide N acetylgalactosaminyltransferases (GalNAc transferases, GALNTs) carry out the addition of N acetylgalactosamine (GalNAc) on serine, threonine or possibly tyrosin...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases associated with O-glycosylation of proteins, organism-specific biosystem (from REACTOME)
      Diseases associated with O-glycosylation of proteins, organism-specific biosystemGlycosylation is the most abundant modification of proteins, variations of which occur in all living cells. Glycosylation can be further categorized into N-linked (where the oligosaccharide is conjug...
    • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
      Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
    • Gastric acid production, organism-specific biosystem (from WikiPathways)
      Gastric acid production, organism-specific biosystemGastric acid forms a protective buffer against pathogenic agents. It is also essential in the digestion of the food. The stomach wall is protected to the high acidity by a mucus layer and bicarbonate...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • O-linked glycosylation, organism-specific biosystem (from REACTOME)
      O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
    • O-linked glycosylation of mucins, organism-specific biosystem (from REACTOME)
      O-linked glycosylation of mucins, organism-specific biosystemMucins are a family of high molecular weight, heavily glycosylated proteins (glycoconjugates) produced by epithelial tissues in most metazoa. Mucins' key characteristic is their ability to form gels...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Termination of O-glycan biosynthesis, organism-specific biosystem (from REACTOME)
      Termination of O-glycan biosynthesis, organism-specific biosystemO-glycan biosynthesis can be terminated (or modified) by the addition of sialic acid residues on Core 1 and 2 glycoproteins by sialyltransferases (Varki et al. 2009).
    Products Interactant Other Gene Complex Source Pubs Description

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    extracellular matrix structural constituent NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    O-glycan processing TAS
    Traceable Author Statement
    more info
     
    maintenance of gastrointestinal epithelium NAS
    Non-traceable Author Statement
    more info
    PubMed 
    stimulatory C-type lectin receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    Golgi lumen TAS
    Traceable Author Statement
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    mucin-6
    Names
    gastric mucin-6

    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.

    Genomic

    1. NG_052845.1 RefSeqGene

      Range
      5001..28883
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005961.2NP_005952.2  mucin-6 precursor

      See identical proteins and their annotated locations for NP_005952.2

      Status: REVIEWED

      Source sequence(s)
      AC139749
      Consensus CDS
      CCDS44513.1
      UniProtKB/Swiss-Prot
      Q6W4X9
      Related
      ENSP00000406861.2, OTTHUMP00000228589, ENST00000421673.6, OTTHUMT00000382120
      Conserved Domains (8) summary
      PHA03255
      Location:21882343
      PHA03255; BDLF3; Provisional
      smart00041
      Location:23512434
      CT; C-terminal cystine knot-like domain (CTCK)
      smart00215
      Location:359403
      VWC_out; von Willebrand factor (vWF) type C domain
      smart00216
      Location:386549
      VWD; von Willebrand factor (vWF) type D domain
      pfam00094
      Location:8681017
      VWD; von Willebrand factor type D domain
      pfam01826
      Location:302357
      TIL; Trypsin Inhibitor like cysteine rich domain
      pfam08742
      Location:10571127
      C8; C8 domain
      cl17735
      Location:829886
      VWC; von Willebrand factor type C domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      1012824..1036706 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 PATCHES

    Genomic

    1. NW_015148966.1 Reference GRCh38.p7 PATCHES

      Range
      281..24163 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_2

    Genomic

    1. NT_187656.1 Reference GRCh38.p7 ALT_REF_LOCI_2

      Range
      75567..106271 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_3

    Genomic

    1. NT_187681.1 Reference GRCh38.p7 ALT_REF_LOCI_3

      Range
      82415..111099 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      1011748..1035629 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center