MGP Database

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MGP007262

UniProt Annotations

Entry Information
Gene Namemucin 5B, oligomeric mucus/gel-forming
Protein EntryMUC5B_HUMAN
UniProt IDQ9HC84
SpeciesHuman
Comments
Comment typeDescription
DiseasePulmonary fibrosis, idiopathic (IPF) [MIM:178500]: A lung disease characterized by shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees of inflammation and fibrosis on biopsy. In some cases, the disorder can be rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and end-stage lung disease. {ECO:0000269|PubMed:21506741, ECO:0000269|PubMed:21506748}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. A common polymorphism in the promoter of MUC5B is associated with familial interstitial pneumonia and idiopathic pulmonary fibrosis, suggesting that dysregulated MUC5B expression in the lung may be involved in the pathogenesis of pulmonary fibrosis (PubMed:21506741). {ECO:0000269|PubMed:21506741}.
DomainThe cysteine residues in the Cys-rich subdomain repeats are not involved in disulfide bonding.
FunctionGel-forming mucin that is thought to contribute to the lubricating and viscoelastic properties of whole saliva and cervical mucus.
InductionRegulated by all-trans-retinoic acid (ATRA) in a cell- type specific manner. {ECO:0000269|PubMed:11713095}.
PtmHighly glycosylated. C-, N- and O-glycosylated. C- mannosylated in the Cys-rich subdomains probably on the first Trp residue of the WXXW motif. Highly O-glycosylated in the Ser/Thr- rich tandem repeat (TR) region. The repeat region is about 59% O- glycosylated with a high abundance of NeuAc(2)Hex(1)HexNac1-ol. {ECO:0000269|PubMed:14718370, ECO:0000269|PubMed:16740002}.
Sequence CautionSequence=CAA06167.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityContains 1 CTCK (C-terminal cystine knot-like) domain. {ECO:0000255|PROSITE-ProRule:PRU00039}.
SimilarityContains 3 HAT repeats. {ECO:0000305}.
SimilarityContains 3 TIL (trypsin inhibitory-like) domains. {ECO:0000305}.
SimilarityContains 3 VWFC domains. {ECO:0000255|PROSITE- ProRule:PRU00220}.
SimilarityContains 4 VWFD domains. {ECO:0000255|PROSITE- ProRule:PRU00580}.
Subcellular LocationSecreted.
Tissue SpecificityExpressed on surface airway epithelia. Expressed mainly in mucous cells of submucosal glands of airway tissues. Highly expressed in the sublingual gland. Also found in submaxillary glands, endocervix, gall bladder, and pancreas. {ECO:0000269|PubMed:11713095, ECO:0000269|PubMed:8554565, ECO:0000269|PubMed:9147051, ECO:0000269|PubMed:9164870}.
Web ResourceName=Mucin database; URL="http://www.medkem.gu.se/mucinbiology/databases/";
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