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

    Gene ID: 727897, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:7516
    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
    NEW
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    Genomic context

    See MUC5B in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    49
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (1223066..1262172)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (1294310..1333348)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1244296..1283402)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1077965-1078465 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1078491-1079026 Neighboring gene mucin 2, oligomeric mucus/gel-forming Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1107354-1107884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1107885-1108414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1134566-1135066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1145665-1146418 Neighboring gene mucin 5AC, oligomeric mucus/gel-forming Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:1214179-1215378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1223657-1224164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1224165-1224671 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1244137-1244834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1244835-1245530 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1245531-1246228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1259661-1260162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1260163-1260662 Neighboring gene MUC5B antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1283433-1283938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4288 Neighboring gene microRNA 6744 Neighboring gene toll interacting protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1319647-1320378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1320379-1321110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1323133-1323656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1323657-1324180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1324181-1324704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3052 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1331258-1332019 Neighboring gene TOLLIP divergent transcript

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (15 hits/1252 screens)

    Associated conditions

    EBI GWAS Catalog

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

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding  
    enables protein binding PubMed 
    Component Evidence Code Pubs
    located_in Golgi lumen  
    located_in extracellular exosome PubMed 
    is_active_in extracellular matrix  
    located_in extracellular space PubMed 
    is_active_in extracellular space  
    located_in intracellular membrane-bounded organelle  
    located_in plasma membrane  

    General protein information

    Preferred Names
    mucin-5B
    Names
    cervical mucin MUC5B
    high molecular weight salivary mucin MG1
    mucin 5, subtype B, tracheobronchial
    mucin MG1
    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
      O00447, O00573, O14985, O15494, O95291, O95451, Q14881, Q99552, Q9HC84, Q9UE28
      UniProtKB/TrEMBL
      A7Y9J9
      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: 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_000011.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      1294310..1333348
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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