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

    Gene ID: 4586, updated on 28-Oct-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, Oct 2024]
    Annotation information
    Annotation category: suggests misassembly
    Expression
    Restricted expression toward stomach (RPKM 226.0) See more
    Orthologs
    mouse all
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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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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