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

Gene ID: 727897, updated on 18-Feb-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
109.20201120 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 antisense RNA 1 (head to head)

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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
O-glycan processing TAS
Traceable Author Statement
more info
 
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 exosome HDA PubMed 
extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
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)

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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 109.20201120

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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