MUC5AC
Mucin 5AC, Oligomeric Mucus/Gel-Forming
Gene Information Card
| Symbol | MUC5AC |
|---|---|
| Full Name | Mucin 5AC, Oligomeric Mucus/Gel-Forming |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.5 |
| NCBI Gene ID | 4586 ncbi.nlm.nih.gov/gene/4586 |
| Ensembl ID | ENSG00000215193 |
| UniProt ID | P98088 |
| OMIM ID | 158373 |
| HGNC ID | 7515 |
| Aliases | MUC5, mucin 5AC, leB, MUC-5AC |
Description
MUC5AC encodes a gel-forming mucin protein that is a major component of airway and gastric mucus. It is primarily expressed in goblet cells of the respiratory epithelium and in the stomach, where it contributes to the protective mucus barrier. MUC5AC is involved in innate immunity, epithelial homeostasis, and its dysregulation is linked to chronic respiratory diseases and gastric carcinogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | Overexpression of MUC5AC leads to mucus hypersecretion and airway obstruction | ClinVar, NCBI |
| Cystic fibrosis | Increased MUC5AC production contributes to thick mucus and impaired mucociliary clearance | ClinVar, NCBI |
| Gastric cancer | Aberrant MUC5AC expression is associated with gastric carcinogenesis and Helicobacter pylori infection | OMIM, NCBI |
| Chronic obstructive pulmonary disease (COPD) | MUC5AC upregulation correlates with mucus plugging and inflammation | NCBI |
| Mucinous ovarian cancer | MUC5AC is frequently expressed in mucinous ovarian tumors | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Stomach | 107.8 | High |
| Lung | 45.2 | Medium |
| Trachea | 38.1 | Medium |
| Salivary gland | 12.5 | Low |
| Colon | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NCI-H292 (lung mucoepidermoid) | 89.5 | High expression |
| HT-29 (colorectal adenocarcinoma) | 22.3 | Moderate expression |
| A549 (lung carcinoma) | 5.1 | Low expression |
| MCF7 (breast cancer) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncation |
| c.4567G>A (p.Gly1523Arg) | Missense | 0.2% | Unknown significance |
| c.7890_7891insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in MUC5AC are predicted to cause loss of function, reducing mucin production and compromising mucosal barrier integrity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations are reported for MUC5AC.
Dominant Negative (DN)
No dominant-negative mutations have been described for MUC5AC.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mucin type O-glycan biosynthesis (KEGG:00512)
• Gastric cancer (KEGG:05226)
• Epithelial cell signaling in Helicobacter pylori infection (KEGG:05120)
Protein Summary
MUC5AC is a large, heavily glycosylated gel-forming mucin (approximately 500-600 kDa core protein) that polymerizes via disulfide bonds to form a protective mucus gel. It is secreted by goblet cells in the respiratory tract and stomach. The protein contains multiple tandem repeat domains rich in serine, threonine, and proline, which serve as sites for O-glycosylation. MUC5AC plays a key role in trapping pathogens and lubricating epithelial surfaces. Its expression is regulated by inflammatory cytokines and microbial stimuli.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MUC5AC Knockout HEK293 Cell Line | EDJ-KQ1060 | Human | 4586 | Details Get a Quote |
| MUC5AC Knockout A-549 Cell Line | EDJ-KQ20183 | Human | 4586 | Details Get a Quote |
| MUC5AC Knockout HeLa Cell Line | EDJ-KQ26278 | Human | 4586 | Details Get a Quote |
| MUC5AC Knockout HCT 116 Cell Line | EDJ-KQ70884 | Human | 4586 | Details Get a Quote |
| MUC5AC Knock-in BEAS-2B Stable Cell Line | EDC08358 | Human | 4586 | Details Get a Quote |
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