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    MUC5B mucin 5B, oligomeric mucus/gel-forming [ Homo sapiens (human) ]

    Gene ID: 727897, updated on 19-Jul-2016
    Official Symbol
    MUC5Bprovided by HGNC
    Official Full Name
    mucin 5B, oligomeric mucus/gel-formingprovided by HGNC
    Primary source
    HGNC:HGNC:7516
    See related
    Ensembl:ENSG00000117983 MIM:600770; Vega:OTTHUMG00000166494
    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
    MG1; MUC5; MUC9; MUC-5B
    Summary
    This gene encodes a member of the mucin family of proteins, which are highly glycosylated macromolecular components of mucus secretions. This family member is the major gel-forming mucin in mucus. It is a major contributor to the lubricating and viscoelastic properties of whole saliva, normal lung mucus and cervical mucus. This gene has been found to be up-regulated in some human diseases, including sinus mucosa of chronic rhinosinusitis (CRS), CRS with nasal polyposis, chronic obstructive pulmonary disease (COPD) and H. pylori-associated gastric disease, and it may be involved in the pathogenesis of these diseases. [provided by RefSeq, Jul 2010]
    Orthologs
    Location:
    11p15.5
    Exon count:
    49
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (1223065..1262176)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1244295..1283406)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mucin 2, oligomeric mucus/gel-forming Neighboring gene mucin 5AC, oligomeric mucus/gel-forming Neighboring gene microRNA 6744 Neighboring gene toll interacting protein Neighboring gene uncharacterized LOC105376512 Neighboring gene TOLLIP antisense RNA 1 (head to head)

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Idiopathic fibrosing alveolitis, chronic form
    MedGen: C1800706 OMIM: 178500 GeneReviews: Pulmonary Fibrosis, Familial
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of mucin 5B, oligomeric mucus/gel-forming (MUC5B) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Salivary agglutinin and mucin, as well as several lower-molecular-weight proteins interact with HIV-1 to strip gp120 from the virus PubMed

    Go to the HIV-1, Human Interaction Database

    • 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...
    • 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...
    • Salivary secretion, organism-specific biosystem (from KEGG)
      Salivary secretion, organism-specific biosystemSaliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for e...
    • Salivary secretion, conserved biosystem (from KEGG)
      Salivary secretion, conserved biosystemSaliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for e...
    • 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

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    O-glycan processing TAS
    Traceable Author Statement
    more info
     
    defense response to bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of macrophage activation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi lumen TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    mucin-5B
    Names
    cervical mucin MUC5B
    high molecular weight salivary mucin MG1
    mucin 5, subtype B, tracheobronchial
    sublingual gland mucin

    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_031880.1 RefSeqGene

      Range
      5001..44112
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002458.2NP_002449.2  mucin-5B precursor

      See identical proteins and their annotated locations for NP_002449.2

      Status: REVIEWED

      Source sequence(s)
      AC061979
      Consensus CDS
      CCDS44515.2
      UniProtKB/Swiss-Prot
      Q9HC84
      Related
      ENSP00000436812, OTTHUMP00000233052, ENST00000529681, OTTHUMT00000390041
      Conserved Domains (8) summary
      smart00041
      Location:56605742
      CT; C-terminal cystine knot-like domain (CTCK)
      smart00214
      Location:55235586
      VWC; von Willebrand factor (vWF) type C domain
      smart00215
      Location:387432
      VWC_out; von Willebrand factor (vWF) type C domain
      smart00216
      Location:8841041
      VWD; von Willebrand factor (vWF) type D domain
      smart00832
      Location:615685
      C8; This domain contains 8 conserved cysteine residues
      pfam01826
      Location:329385
      TIL; Trypsin Inhibitor like cysteine rich domain
      pfam08742
      Location:10781152
      C8; C8 domain
      pfam13330
      Location:17891878
      Mucin2_WxxW; Mucin-2 protein WxxW repeating region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    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
      1223065..1262176
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      1243203..1282327
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)