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MUC5AC (mucin 5AC, oligomeric mucus/gel-forming)

Written2009-07Raquel Mejías-Luque, Lara Cobler, Carme de Bolós
Programa de Recerca en Cancer, IMIM-Hospital del Mar, Dr Aiguader, 88, 08003, Barcelona, Spain

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Alias (NCBI)LeB
mucin 5AC
HGNC Alias symbMUC5
HGNC Previous namemucin 5, subtypes A and C, tracheobronchial/gastric
LocusID (NCBI) 4586
Atlas_Id 41460
Location 11p15.5  [Link to chromosome band 11p15]
Location_base_pair Starts at 1157953 and ends at 1201138 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping MUC5AC.png]
  Location of MUC5AC gene.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)


  Genomic organization of MUC5AC gene (not to scale).
Description MUC5AC gene approximately extends 150 kb-long on the chromosome 11 in the region p15.5. The central region has sequences repeated in tandem (TR) with a consensus motif composed of 24 bp. The variable number of TR (VNTR) polymorphism is low compared with MUC2 and MUC6. The MUC5AC alleles present small differences in length, but the tandem repeat sequence is highly polymorphic and differs in length by 0.5-1 kb.
Transcription To date, there is a discrepancy regarding the total number of exons present in MUC5AC gene. The full size 5' UTR of MUC5AC has not been yet determined, but it is estimated that the mRNA length is approximately 17.5 kb.
The 4 kb fragment upstream is essential for the cell-specific expression of MUC5AC. It contains a TATA box at -29/-23 and potential transcription factor binding sites are described for NFkappaB, Sp-1, GRE and AP-2. One CACCC box able to bind SP1 and initiate transcription has been identified. At present no splice variant forms have been reported.
The MUC5AC promoter has lower number of CpG dinucleotides compared to the other mucin genes located at 11p15, and no silencing of this gene could be explained by methylation.
Several factors have been shown to induce the transcription of MUC5AC such as cytokines, inflammatory mediators, growth factors, some bacterial exproducts and toxic agents like tobacco smoke and pollutants. Furthermore, it is reported that glucocorticoids downregulate MUC5AC expression.


Note MUC5AC is a secreted, gel-forming mucin with a high molecular weight (approximately 641 kDa). Up to 80% of the total weight is due to the large number of O-glycosilated chains attached to Thr and Ser residues in the TR sequence.
  Schematic representation of MUC5AC peptide structure (not to scale).
Description MUC5AC is a polymeric mucin with a N-terminal region, a central region, and a C-terminal region.
At the N-terminal region, D1, D2, D' and D3 cysteine-rich domains (Cys) similar to von Willebrand factor (vWF) are present, and are responsible for the disulfide-mediated polymer formation. At the central region, coded by a single large exon, nine Cys domains are located: Cys1 to Cys5 are interspersed by domains rich in Ser, Thr and Pro (STP) with no repetitive sequences, whereas Cys5 to Cys9 domains are interspersed by four TR domains. The consensus repetitive sequence most frequent is TTSTTSAP containing a high number of potential O-glycosilation sites. The C-terminal region has the cysteine-rich vWF-like domains D4, B, C and CK. The CK domain mediates the formation of disulfide-linked dimmers by an autocatalytic process. Towards the C-terminus, contains an autocatalytic protein-cleavage site at the motif GDPH.
Expression MUC5AC was initially isolated from a human tracheobronchial cDNA library, and it is highly expressed in the goblet cells of the respiratory epithelium. MUC5AC is also highly detected in the superficial gastric epithelium, and it is also expressed in pancreas, endocervix and gallbladder.
Under pathological conditions, MUC5AC expression can be altered, as it is reported below. The changes associated with neoplastic transformation and inflammatory diseases, can be induced by the activation of signaling pathways in response to several factors such as inflammatory cytokines, growth factors, and bacterial products.
Function MUC5AC is a gel-forming mucin and it is a major constituent of the mucus lining mainly the respiratory tract and the stomach. In the surface of the normal respiratory epithelium, MUC5AC is one of the major contributors to the rheological properties of the mucus that has a critical role in the defense against pathogenic and environmental challenges. In the gastric mucosa, MUC5AC and MUC6 are the main components of the protective layer over the surface, and act as a selective diffusion barrier for HCl. MUC5AC also protect the gastric epithelium from Helicobacter pylori, and the glycan structures on MUC5AC, Leb and sialyl Lex, act as ligands for the bacterium competing with the ligands located on the epithelial cell surface.
Homology Several orthologues of MUC5AC have been identified in Mus musculus, Rattus norvegicus, Canis lupus familiaris, Equus caballus and Pan troglodytes. The chicken, horse and mouse Muc5AC have a similar domain structure. Murine N-terminal and C-terminal regions showed striking similarities with human MUC5AC, whereas the TSP domains are specific for species. Furthermore, MUC5AC tissue-specific expression is conserved in murine and equine organisms.

Implicated in

Entity Gastric cancer
Disease Gastric cancer remains the second leading cause of cancer related deaths and the fourth most common cancer in the world, although its incidence is gradually decreasing.
Prognosis Gastric neoplastic transformation is associated with a decreased expression of MUC5AC. MUC5AC is used as a marker of gastric phenotype in stomach tumours, and its expression is associated with antral carcinomas. MUC5AC expression have been also related to tumour stage: it is expressed in early carcinomas while advanced gastric cancers present reduced levels of MUC5AC.
Entity Colon cancer
Disease Colorectal cancer is one of the commonest cancers and the third leading cause of cancer death. However, its incidence has decreased due to a most effective intervention and life-style changes in the western countries.
Prognosis MUC5AC has been detected in precancerous lesions as well as in colon cancer, and this ectopic expression may represent a nonspecific repair function of the colon cells to compensate for damage to barrier function.
Entity Endometrial adenocarcinoma
Disease Endometrial adenocarcinoma is the most common malignant neoplasm of the female genital tract in developed countries, and it occurs predominantly after menopause.
Prognosis Increased levels of MUC5AC have been found in endometrial adenocarcinoma compared to normal endometrium and endometrial hyperplasia, suggesting a potential role for MUC5AC as a marker of endometrial neoplastic transformation.
Entity Pancreatic cancer
Disease Pancreas cancer is a very aggressive tumor with a 5-year survival of less than 5%, and approximately 85% of them correspond to ductal adenocarcinomas.
Prognosis The ectopic expression of MUC5AC in pancreas ductal adenocarcinomas is an early event, already detected in the PanIN1A (pancreatic intraepithelial neoplasia 1A) stage. The MUC5AC expression is maintained to reach 85% of the pancreatic tumors.
Entity Biliary tract cancer
Disease Biliary tract carcinomas are uncommon tumors that includes cholangiocarcinomas and gallbladder carcinomas. These tumors has a poor prognosis: more than 80% of the patients are unresectable with a 6-9 month survival, and this rate is increased to 5-year after surgery.
Prognosis MUC5AC is detected at very low levels in biliary tract carcinomas and its expression do not correlate with the clinical stage of the tumor. However, the detection of MUC5AC in sera from biliary tract carcinoma patients, associated to the MUC4 expression in the tumor, have been suggested as a highly specific markers for this neoplasia.
Entity Airways pathologies: asthma, cystic fibrosis (CF), chronic obstructive pulmonary disease (COPD) and nasal polyps (NP) in upper airways
Disease Asthma has grown, particularly among children, in prevalence and it is characterized by an airflow obstruction caused by inflammation-induced changes in airway smooth muscle contraction and by mucus hypersecretion.
CF is characterized by impaired mucociliary clearance, leading to chronic airflow obstruction and to recurrent infections.
COPD is the fourth leading cause of death in the U.S. and Europe. Submucosal gland hypertrophy and airway surface metaplasia are the hallmarks of COPD.
NP is an inflammatory disease whose aetiology is still unknown and affects 2-4% of general population.
Prognosis MUC5AC levels have been found to be increased in asthma, CF and COPD that alter the transport properties of the mucus gel and provide a favourable environment for pathogens. In NP a decrease of MUC5AC levels are detected.


Mucin genes (MUC2, MUC4, MUC5AC, and MUC6) detection in normal and pathological endometrial tissues.
Alameda F, Mejias-Luque R, Garrido M, de Bolos C.
Int J Gynecol Pathol. 2007 Jan;26(1):61-5.
PMID 17197898
Regulation of mucin expression: mechanistic aspects and implications for cancer and inflammatory diseases.
Andrianifahanana M, Moniaux N, Batra SK.
Biochim Biophys Acta. 2006 Apr;1765(2):189-222. Epub 2006 Jan 27. (REVIEW)
PMID 16487661
Worldwide time trends in the prevalence of symptoms of asthma, allergic rhinoconjunctivitis, and eczema in childhood: ISAAC Phases One and Three repeat multicountry cross-sectional surveys.
Asher MI, Montefort S, Bjorksten B, Lai CK, Strachan DP, Weiland SK, Williams H; ISAAC Phase Three Study Group.
Lancet. 2006 Aug 26;368(9537):733-43. Erratum in: Lancet. 2007 Sep 29;370(9593):1128.
PMID 16935684
Gastric M1 mucin, an early oncofetal marker of colon carcinogenesis, is encoded by the MUC5AC gene.
Bara J, Chastre E, Mahiou J, Singh RL, Forgue-Lafitte ME, Hollande E, Godeau F.
Int J Cancer. 1998 Mar 2;75(5):767-73.
PMID 9495247
Viscous fingering of HCl through gastric mucin.
Bhaskar KR, Garik P, Turner BS, Bradley JD, Bansil R, Stanley HE, LaMont JT.
Nature. 1992 Dec 3;360(6403):458-61.
PMID 1448168
Human mucin gene MUC5AC: organization of its 5'-region and central repetitive region.
Escande F, Aubert JP, Porchet N, Buisine MP.
Biochem J. 2001 Sep 15;358(Pt 3):763-72.
PMID 11535137
The mouse secreted gel-forming mucin gene cluster.
Escande F, Porchet N, Bernigaud A, Petitprez D, Aubert JP, Buisine MP.
Biochim Biophys Acta. 2004 Feb 20;1676(3):240-50.
PMID 14984930
Abnormal expression of M1/MUC5AC mucin in distal colon of patients with diverticulitis, ulcerative colitis and cancer.
Forgue-Lafitte ME, Fabiani B, Levy PP, Maurin N, Flejou JF, Bara J.
Int J Cancer. 2007 Oct 1;121(7):1543-9.
PMID 17565737
Characterization of the human mucin gene MUC5AC: a consensus cysteine-rich domain for 11p15 mucin genes?
Guyonnet Duperat V, Audie JP, Debailleul V, Laine A, Buisine MP, Galiegue-Zouitina S, Pigny P, Degand P, Aubert JP, Porchet N.
Biochem J. 1995 Jan 1;305 ( Pt 1):211-9.
PMID 7826332
Aberrant expression of MUC5AC and MUC6 gastric mucins and sialyl Tn antigen in intraepithelial neoplasms of the pancreas.
Kim GE, Bae HI, Park HU, Kuan SF, Crawley SC, Ho JJ, Kim YS.
Gastroenterology. 2002 Oct;123(4):1052-60.
PMID 12360467
An inventory of mucin genes in the chicken genome shows that the mucin domain of Muc13 is encoded by multiple exons and that ovomucin is part of a locus of related gel-forming mucins.
Lang T, Hansson GC, Samuelsson T.
BMC Genomics. 2006 Aug 3;7:197.
PMID 16887038
Cloning of the amino-terminal and 5'-flanking region of the human MUC5AC mucin gene and transcriptional up-regulation by bacterial exoproducts.
Li D, Gallup M, Fan N, Szymkowski DE, Basbaum CB.
J Biol Chem. 1998 Mar 20;273(12):6812-20.
PMID 9506983
Mucins as differentiation markers in bronchial epithelium. Squamous cell carcinoma and adenocarcinoma display similar expression patterns.
Lopez-Ferrer A, Curull V, Barranco C, Garrido M, Lloreta J, Real FX, de Bolos C.
Am J Respir Cell Mol Biol. 2001 Jan;24(1):22-29.
PMID 11152646
Chronic obstructive pulmonary disease surveillance--United States, 1971-2000.
Mannino DM, Homa DM, Akinbami LJ, Ford ES, Redd SC.
Respir Care. 2002 Oct;47(10):1184-99.
PMID 12354338
Corticosteroid therapy increases membrane-tethered while decreases secreted mucin expression in nasal polyps.
Martinez-Anton A, de Bolos C, Alobid I, Benitez P, Roca-Ferrer J, Picado C, Mullol J.
Allergy. 2008 Oct;63(10):1368-76. Epub 2008 Jun 5.
PMID 18547287
MUC4 and MUC5AC are highly specific tumour-associated mucins in biliary tract cancer.
Matull WR, Andreola F, Loh A, Adiguzel Z, Deheragoda M, Qureshi U, Batra SK, Swallow DM, Pereira SP.
Br J Cancer. 2008 May 20;98(10):1675-81. Epub 2008 May 13.
PMID 18475301
Induction of MUC2 and MUC5AC mucins by factors of the epidermal growth factor (EGF) family is mediated by EGF receptor/Ras/Raf/extracellular signal-regulated kinase cascade and Sp1.
Perrais M, Pigny P, Copin MC, Aubert JP, Van Seuningen I.
J Biol Chem. 2002 Aug 30;277(35):32258-67. Epub 2002 Jun 19.
PMID 12077147
Human mucin genes assigned to 11p15.5: identification and organization of a cluster of genes.
Pigny P, Guyonnet-Duperat V, Hill AS, Pratt WS, Galiegue-Zouitina S, d'Hooge MC, Laine A, Van-Seuningen I, Degand P, Gum JR, Kim YS, Swallow DM, Aubert JP, Porchet N.
Genomics. 1996 Dec 15;38(3):340-52.
PMID 8975711
Muc5b and Muc5ac are the major oligomeric mucins in equine airway mucus.
Rousseau K, Kirkham S, McKane S, Newton R, Clegg P, Thornton DJ.
Am J Physiol Lung Cell Mol Physiol. 2007 Jun;292(6):L1396-404. Epub 2007 Feb 9.
PMID 17293373
Structure and function of the polymeric mucins in airways mucus.
Thornton DJ, Rousseau K, McGuckin MA.
Annu Rev Physiol. 2008;70:459-86. (REVIEW)
PMID 17850213
Variable number tandem repeat polymorphism of the mucin genes located in the complex on 11p15.5.
Vinall LE, Hill AS, Pigny P, Pratt WS, Toribara N, Gum JR, Kim YS, Porchet N, Aubert JP, Swallow DM.
Hum Genet. 1998 Mar;102(3):357-66.
PMID 9544852
Regulation of mucin genes in chronic inflammatory airway diseases.
Voynow JA, Gendler SJ, Rose MC.
Am J Respir Cell Mol Biol. 2006 Jun;34(6):661-5. Epub 2006 Feb 2. (REVIEW)
PMID 16456183
Regulation of mucin and glycoconjugate expression: from normal epithelium to gastric tumors.
de Bolos C, Real FX, Lopez-Ferrer A.
Front Biosci. 2001 Oct 1;6:D1256-63. (REVIEW)
PMID 11578953


This paper should be referenced as such :
Mejias-Luque, R ; Cobler, L ; de, Bolòs C
MUC5AC (mucin 5AC, oligomeric mucus/gel-forming)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(6):566-569.
Free journal version : [ pdf ]   [ DOI ]

External links

HGNC (Hugo)MUC5AC   7515
Atlas Explorer : (Salamanque)MUC5AC
Entrez_Gene (NCBI)MUC5AC    mucin 5AC, oligomeric mucus/gel-forming
AliasesMUC5; TBM; leB; mucin
GeneCards (Weizmann)MUC5AC
Ensembl hg19 (Hinxton)ENSG00000215182 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000215182 [Gene_View]  ENSG00000215182 [Sequence]  chr11:1157953-1201138 [Contig_View]  MUC5AC [Vega]
ICGC DataPortalENSG00000215182
Genatlas (Paris)MUC5AC
SOURCE (Princeton)MUC5AC
Genetics Home Reference (NIH)MUC5AC
Genomic and cartography
GoldenPath hg38 (UCSC)MUC5AC  -     chr11:1157953-1201138 +  11p15.5   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MUC5AC  -     11p15.5   [Description]    (hg19-Feb_2009)
GoldenPathMUC5AC - 11p15.5 [CytoView hg19]  MUC5AC - 11p15.5 [CytoView hg38]
Genome Data Viewer NCBIMUC5AC [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AF015521 AF043909 AJ001402 AJ292079 AJ298317
RefSeq transcript (Entrez)NM_001304359 NM_017511
Consensus coding sequences : CCDS (NCBI)MUC5AC
Gene ExpressionMUC5AC [ NCBI-GEO ]   MUC5AC [ EBI - ARRAY_EXPRESS ]   MUC5AC [ SEEK ]   MUC5AC [ MEM ]
Gene Expression Viewer (FireBrowse)MUC5AC [ Firebrowse - Broad ]
GenevisibleExpression of MUC5AC in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4586
GTEX Portal (Tissue expression)MUC5AC
Human Protein AtlasENSG00000215182-MUC5AC [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)MUC5AC
Human Protein Atlas [tissue]ENSG00000215182-MUC5AC [tissue]
Protein Interaction databases
Ontologies - Pathways
PubMed324 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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