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MUC5AC mucin 5AC, oligomeric mucus/gel-forming [ Homo sapiens (human) ]

Gene ID: 4586, updated on 2-Nov-2024

Summary

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Official Symbol
MUC5ACprovided by HGNC
Official Full Name
mucin 5AC, oligomeric mucus/gel-formingprovided by HGNC
Primary source
HGNC:HGNC:7515
See related
Ensembl:ENSG00000215182 MIM:158373; AllianceGenome:HGNC:7515
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TBM; leB; MUC5; mucin
Summary
Predicted to be an extracellular matrix structural constituent. Predicted to act upstream of or within maintenance of lens transparency. Located in extracellular space and mucus layer. Implicated in dry eye syndrome. Biomarker of several diseases, including Sjogren's syndrome; biliary tract disease (multiple); cystic fibrosis; eye disease (multiple); and pancreatic cancer (multiple). [provided by Alliance of Genome Resources, Nov 2024]
Annotation information
Annotation category: suggests misassembly
Expression
Restricted expression toward stomach (RPKM 226.0) See more
Orthologs
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Genomic context

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See MUC5AC 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 (1157953..1201138)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (1229366..1272380)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1151580..1222364)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:1060443-1061642 Neighboring gene uncharacterized LOC107987157 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 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 mucin 5B, oligomeric mucus/gel-forming Neighboring gene MUC5B antisense RNA 1 Neighboring gene microRNA 6744

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Development of a serum biomarker assay that differentiates tumor-associated MUC5AC (NPC-1C ANTIGEN) from normal MUC5AC. Luka J, et al. J Biomed Biotechnol, 2011. PMID 21197415, Free PMC Article
  2. Expression of MUC5AC, an early marker of pancreatobiliary cancer, is regulated by DNA methylation in the distal promoter region in cancer cells. Yamada N, et al. J Hepatobiliary Pancreat Sci, 2010 Nov. PMID 20734208
  3. [The effects of stretch sensitive positive ion channel on the high externalization of MUC5AC in airway epithelial cells by mechanical stretching]. Zhong T, et al. Zhonghua Yi Xue Za Zhi, 2010 Sep 7. PMID 21092491
  4. Impact of Cigarette Smoking on Tear Function and Correlation between Conjunctival Goblet Cells and Tear MUC5AC Concentration in Office Workers. Uchino Y, et al. Sci Rep, 2016 Jun 14. PMID 27297822, Free PMC Article
  5. Is mucin a determinant of peritoneal dissemination of gastrointestinal cancer? Analysis of mucin depletion in two preclinical models. Masoumi-Moghaddam S, et al. Clin Transl Oncol, 2017 Feb. PMID 27193208

See all (365) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. KDELR2 is necessary for chronic obstructive pulmonary disease airway Mucin5AC hypersecretion via an IRE1alpha/XBP-1s-dependent mechanism.
    Title: KDELR2 is necessary for chronic obstructive pulmonary disease airway Mucin5AC hypersecretion via an IRE1α/XBP-1s-dependent mechanism.
  2. MUC5AC Genetic Variation Is Associated With Tuberculous Meningitis Cerebral Spinal Fluid Cytokine Responses and Mortality.
    Title: MUC5AC Genetic Variation Is Associated With Tuberculous Meningitis Cerebral Spinal Fluid Cytokine Responses and Mortality.
  3. Predictive Value of MUC5AC Signature in Pancreatic Ductal Adenocarcinoma: A Hypothesis Based on Preclinical Evidence.
    Title: Predictive Value of MUC5AC Signature in Pancreatic Ductal Adenocarcinoma: A Hypothesis Based on Preclinical Evidence.
  4. The association between MUC5AC and MUC5B genes expression and remodeling progression in severe neutrophilic asthma: A direct relationship.
    Title: The association between MUC5AC and MUC5B genes expression and remodeling progression in severe neutrophilic asthma: A direct relationship.
  5. Nebulized Menthol Impairs Mucociliary Clearance via TRPM8 and MUC5AC/MUC5B in Primary Airway Epithelial Cells.
    Title: Nebulized Menthol Impairs Mucociliary Clearance via TRPM8 and MUC5AC/MUC5B in Primary Airway Epithelial Cells.
  6. Evaluation of MUC1, MUC2, MUC5AC, and MUC6 Expression Differences in Lung Adenocarcinoma Subtypes by Using a Final Immunoreactivity Score (FIRS).
    Title: Evaluation of MUC1, MUC2, MUC5AC, and MUC6 Expression Differences in Lung Adenocarcinoma Subtypes by Using a Final Immunoreactivity Score (FIRS).
  7. MUC5B mobilizes and MUC5AC spatially aligns mucociliary transport on human airway epithelium.
    Title: MUC5B mobilizes and MUC5AC spatially aligns mucociliary transport on human airway epithelium.
  8. The Regulation Mechanism of MUC5AC Secretion in Airway of Obese Asthma.
    Title: The Regulation Mechanism of MUC5AC Secretion in Airway of Obese Asthma.
  9. De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia.
    Title: De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia.
  10. Mucins MUC5AC and MUC5B Are Variably Packaged in the Same and in Separate Secretory Granules.
    Title: Mucins MUC5AC and MUC5B Are Variably Packaged in the Same and in Separate Secretory Granules.
Submit: New GeneRIF Correction See all GeneRIFs (332)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables extracellular matrix structural constituent TAS
Traceable Author Statement
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi lumen TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mucus layer IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
mucin-5AC
Names
gastric mucin
lewis B blood group antigen
major airway glycoprotein
mucin 5, subtypes A and C, tracheobronchial/gastric
mucin 5AC, oligomeric mucus/gel-forming pseudogene
mucin-5 subtype AC, tracheobronchial
tracheobronchial 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.

mRNA and Protein(s)

  1. NM_001304359.2 → NP_001291288.1  mucin-5AC precursor

    See identical proteins and their annotated locations for NP_001291288.1

    Status: VALIDATED

    Source sequence(s)
    AF015521, AJ001402, AJ298317, BC033831, FP326773, KC800812, Z48314
    Consensus CDS
    CCDS76369.1
    UniProtKB/Swiss-Prot
    A0A096LPK4, O60460, O76065, P98088, Q13792, Q14425, Q658Q1, Q8N4M9, Q8WWQ3, Q8WWQ4, Q8WWQ5
    UniProtKB/TrEMBL
    T1S9D5
    Related
    ENSP00000485659.1, ENST00000621226.2
    Conserved Domains (7) summary
    smart00041
    Location:5534 → 5616
    CT; C-terminal cystine knot-like domain (CTCK)
    smart00216
    Location:4911 → 5079
    VWD; von Willebrand factor (vWF) type D domain
    smart00832
    Location:624 → 694
    C8; This domain contains 8 conserved cysteine residues
    PHA03247
    Location:1335 → 1576
    PHA03247; large tegument protein UL36; Provisional
    cd19941
    Location:338 → 394
    TIL; trypsin inhibitor-like cysteine rich domain
    pfam08742
    Location:265 → 334
    C8; C8 domain
    pfam13330
    Location:1389 → 1475
    Mucin2_WxxW; Mucin-2 protein WxxW repeating region

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
    1157953..1201138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_015148966.2 Reference GRCh38.p14 PATCHES

    Range
    155427..198622
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    1229366..1272380
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_017511.1: Suppressed sequence

    Description
    NM_017511.1: This RefSeq was permanently suppressed because it was based on a chimeric sequence.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P98088.4 GenPept UniProtKB/Swiss-Prot:P98088

Gene LinkOut

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