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

    Gene ID: 727897, updated on 19-Jul-2021

    Summary

    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
    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]
    Expression
    Biased expression in gall bladder (RPKM 56.3), colon (RPKM 19.6) and 3 other tissues See more
    Orthologs
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    Genomic context

    See MUC5B in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    49
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (1223066..1262172)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1244296..1283402)

    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 MUC5B antisense RNA 1 Neighboring gene microRNA 6744 Neighboring gene toll interacting protein Neighboring gene uncharacterized LOC105376512 Neighboring gene TOLLIP divergent transcript

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
    GeneReviews: Not available
    Idiopathic Pulmonary Fibrosis Compare labs

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi lumen TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    mucin-5B
    Names
    cervical mucin MUC5B
    high molecular weight salivary mucin MG1
    mucin 5, subtype B, tracheobronchial
    sublingual gland mucin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5002..44108
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002458.3NP_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
      ENSP00000436812.1, ENST00000529681.5
      Conserved Domains (9) 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:52905351
      C8; C8 domain
      pfam13330
      Location:17891878
      Mucin2_WxxW; Mucin-2 protein WxxW repeating region
      pfam17061
      Location:26752860
      PARM; PARM

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      1223066..1262172
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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