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    LYZ lysozyme [ Homo sapiens (human) ]

    Gene ID: 4069, updated on 7-Jul-2019

    Summary

    Official Symbol
    LYZprovided by HGNC
    Official Full Name
    lysozymeprovided by HGNC
    Primary source
    HGNC:HGNC:6740
    See related
    Ensembl:ENSG00000090382 MIM:153450
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LZM; LYZF1
    Summary
    This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lysozyme is one of the antimicrobial agents found in human milk, and is also present in spleen, lung, kidney, white blood cells, plasma, saliva, and tears. The protein has antibacterial activity against a number of bacterial species. Missense mutations in this gene have been identified in heritable renal amyloidosis. [provided by RefSeq, Oct 2014]
    Expression
    Biased expression in stomach (RPKM 5710.8), salivary gland (RPKM 4398.2) and 8 other tissues See more
    Orthologs

    Genomic context

    See LYZ in Genome Data Viewer
    Location:
    12q15
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (69348354..69354233)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (69742134..69748013)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene cleavage and polyadenylation specific factor 6 Neighboring gene microRNA 1279 Neighboring gene C1GALT1 pseudogene 1 Neighboring gene YEATS domain containing 4 Neighboring gene RNA, 7SL, cytoplasmic 804, pseudogene Neighboring gene ribosomal protein S26 pseudogene 45

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Familial visceral amyloidosis, Ostertag type
    MedGen: C0268389 OMIM: 105200 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genomic association analysis suggests chromosome 12 locus influencing antihypertensive response to thiazide diuretic.
    NHGRI GWA Catalog
    Many sequence variants affecting diversity of adult human height.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify lysozyme (LYZ), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify lysozyme (LYZ), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify lysozyme (LYZ), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify lysozyme (LYZ), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Tat tat HIV-1 Tat downregulates the expression of lysozyme (LYZ) in human primary T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Amyloid fiber formation, organism-specific biosystem (from REACTOME)
      Amyloid fiber formation, organism-specific biosystemAmyloid is a term used to describe deposits of fibrillar proteins, typically extracellular. The abnormal accumulation of amyloid, amyloidosis, is a term associated with tissue damage caused by amyloi...
    • Antimicrobial peptides, organism-specific biosystem (from REACTOME)
      Antimicrobial peptides, organism-specific biosystemAntimicrobial peptides (AMPs) are small molecular weight proteins with broad spectrum of antimicrobial activity against bacteria, viruses, and fungi (Zasloff M 2002; Radek K & Gallo R 2007). The majo...
    • C-MYB transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      C-MYB transcription factor network, organism-specific biosystem
      C-MYB transcription factor network
    • 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.
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • Salivary secretion, organism-specific biosystem (from KEGG)
      Salivary secretion, organism-specific biosystemSaliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for e...
    • Salivary secretion, conserved biosystem (from KEGG)
      Salivary secretion, conserved biosystemSaliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for e...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    lysozyme activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    antimicrobial humoral response TAS
    Traceable Author Statement
    more info
     
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    cytolysis IEA
    Inferred from Electronic Annotation
    more info
     
    defense response to Gram-negative bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    defense response to Gram-positive bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    defense response to Gram-positive bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    defense response to bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    inflammatory response TAS
    Traceable Author Statement
    more info
    PubMed 
    killing of cells of other organism IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    retina homeostasis HEP PubMed 
    Component Evidence Code Pubs
    azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space HDA PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space TAS
    Traceable Author Statement
    more info
    PubMed 
    specific granule lumen TAS
    Traceable Author Statement
    more info
     
    tertiary granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    lysozyme C
    Names
    1,4-beta-N-acetylmuramidase C
    c-type lysozyme
    lysozyme F1
    NP_000230.1

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_008195.1 RefSeqGene

      Range
      5001..10880
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_768

    mRNA and Protein(s)

    1. NM_000239.2NP_000230.1  lysozyme C precursor

      See identical proteins and their annotated locations for NP_000230.1

      Status: REVIEWED

      Source sequence(s)
      AK130149, J03801
      Consensus CDS
      CCDS8989.1
      UniProtKB/Swiss-Prot
      P61626
      UniProtKB/TrEMBL
      B2R4C5
      Related
      ENSP00000261267.2, ENST00000261267.6
      Conserved Domains (1) summary
      smart00263
      Location:19147
      LYZ1; Alpha-lactalbumin / lysozyme C

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      69348354..69354233
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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