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

    Gene ID: 4586, updated on 16-Jul-2017
    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; Vega:OTTHUMG00000154270
    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
    Annotation information
    Annotation category: suggests misassembly
    Orthologs
    Location:
    11p15.5
    Exon count:
    49
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (1157953..1201138)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1142474..1162465)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987157 Neighboring gene mucin 2, oligomeric mucus/gel-forming Neighboring gene mucin 5B, oligomeric mucus/gel-forming Neighboring gene microRNA 6744 Neighboring gene toll interacting protein Neighboring gene uncharacterized LOC105376512

    • Project title: 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
    NHGRI GWA Catalog
    • C-type lectin receptors (CLRs), organism-specific biosystem (from REACTOME)
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    • Dectin-2 family, organism-specific biosystem (from REACTOME)
      Dectin-2 family, organism-specific biosystemDendritic cell-associated C-type lectin-2 (Dectin-2) family of C-type lectin receptors (CLRs) includes Dectin-2 (CLEC6A), blood dendritic antigen 2 (BDCA2/CLEC4C), macrophage C-type lectin (MCL/CLEC4...
    • Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS), organism-specific biosystem (from REACTOME)
      Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS), organism-specific biosystemGlycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 (C1GALT1; MIM:610555) mediates the transfer of Galactose (Gal) from UDP-galactose to single O-linked GalNAc residues (Tn antigens) to...
    • Defective GALNT12 causes colorectal cancer 1 (CRCS1), organism-specific biosystem (from REACTOME)
      Defective GALNT12 causes colorectal cancer 1 (CRCS1), organism-specific biosystemThe family of UDP GalNAc:polypeptide N acetylgalactosaminyltransferases (GalNAc transferases, GALNTs) carry out the addition of N acetylgalactosamine on serine, threonine or possibly tyrosine residue...
    • Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC), organism-specific biosystem (from REACTOME)
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    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases associated with O-glycosylation of proteins, organism-specific biosystem (from REACTOME)
      Diseases associated with O-glycosylation of proteins, organism-specific biosystemGlycosylation is the most abundant modification of proteins, variations of which occur in all living cells. Glycosylation can be further categorized into N-linked (where the oligosaccharide is conjug...
    • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
      Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
    • IL-17 signaling pathway, organism-specific biosystem (from KEGG)
      IL-17 signaling pathway, organism-specific biosystemThe interleukin 17 (IL-17) family, a subset of cytokines consisting of IL-17A-F, plays crucial roles in both acute and chronic inflammatory responses. IL-17A, the hallmark cytokine of the newly defi...
    • IL-17 signaling pathway, conserved biosystem (from KEGG)
      IL-17 signaling pathway, conserved biosystemThe interleukin 17 (IL-17) family, a subset of cytokines consisting of IL-17A-F, plays crucial roles in both acute and chronic inflammatory responses. IL-17A, the hallmark cytokine of the newly defi...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • O-linked glycosylation, organism-specific biosystem (from REACTOME)
      O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
    • O-linked glycosylation of mucins, organism-specific biosystem (from REACTOME)
      O-linked glycosylation of mucins, organism-specific biosystemMucins are a family of high molecular weight, heavily glycosylated proteins (glycoconjugates) produced by epithelial tissues in most metazoa. Mucins' key characteristic is their ability to form gels...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Termination of O-glycan biosynthesis, organism-specific biosystem (from REACTOME)
      Termination of O-glycan biosynthesis, organism-specific biosystemO-glycan biosynthesis can be terminated (or modified) by the addition of sialic acid residues on Core 1 and 2 glycoproteins by sialyltransferases (Varki et al. 2009).
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    extracellular matrix structural constituent TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    O-glycan processing TAS
    Traceable Author Statement
    more info
     
    phosphatidylinositol-mediated signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    stimulatory C-type lectin receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    Golgi lumen TAS
    Traceable Author Statement
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mucus layer IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    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

    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_001304359.1NP_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
      P98088
      Related
      ENSP00000485659.1, OTTHUMP00000228809, ENST00000621226.2, OTTHUMT00000382518
      Conserved Domains (6) summary
      smart00041
      Location:55345616
      CT; C-terminal cystine knot-like domain (CTCK)
      smart00216
      Location:49115079
      VWD; von Willebrand factor (vWF) type D domain
      smart00832
      Location:624694
      C8; This domain contains 8 conserved cysteine residues
      pfam01826
      Location:338394
      TIL; Trypsin Inhibitor like cysteine rich domain
      pfam08742
      Location:265334
      C8; C8 domain
      pfam13330
      Location:13891475
      Mucin2_WxxW; Mucin-2 protein WxxW repeating region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

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

    Reference GRCh38.p7 PATCHES

    Genomic

    1. NW_015148966.1 Reference GRCh38.p7 PATCHES

      Range
      147368..190563
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      1150471..1221279
      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.
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