LYZ lysozyme [Homo sapiens (human)] - Gene

Summary

Official Symbol: LYZprovided by HGNC
Official Full Name: lysozymeprovided by HGNC
Primary source: HGNC:HGNC:6740
See related: Ensembl:ENSG00000090382 MIM:153450; AllianceGenome:HGNC:6740
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; AMYLD5
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: all
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Genomic context

Location:: 12q15

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (69348381..69354234)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (69327311..69333169)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (69742161..69748014)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Length and saturation of fatty acids in phosphatidylserine determine the rate of lysozyme aggregation simultaneously altering the structure and toxicity of amyloid oligomers and fibrils.
Title: Length and saturation of fatty acids in phosphatidylserine determine the rate of lysozyme aggregation simultaneously altering the structure and toxicity of amyloid oligomers and fibrils.
Characterisation of the structural, dynamic and aggregation properties of the W64R amyloidogenic variant of human lysozyme.
Title: Characterisation of the structural, dynamic and aggregation properties of the W64R amyloidogenic variant of human lysozyme.
Analyses of displacements resulting from a point mutation in proteins.
Title: Analyses of displacements resulting from a point mutation in proteins.
Lysozyme elicits pain during nerve injury by neuronal Toll-like receptor 4 activation and has therapeutic potential in neuropathic pain.
Title: Lysozyme elicits pain during nerve injury by neuronal Toll-like receptor 4 activation and has therapeutic potential in neuropathic pain.
Serum amyloid P component promotes formation of distinct aggregated lysozyme morphologies and reduces toxicity in Drosophila flies expressing human F57I lysozyme.
Title: Serum amyloid P component promotes formation of distinct aggregated lysozyme morphologies and reduces toxicity in Drosophila flies expressing F57I lysozyme.
These results of the RNA-seq experiment show that lysozyme induces transcriptional modulation of the TNF-alpha/IL-1beta pathway genes in U937 monocytes.
Title: Lysozyme-Induced Transcriptional Regulation of TNF-α Pathway Genes in Cells of the Monocyte Lineage.
Three AMP genes, histatin 3 (HTN3), alpha-defensin 4 (DEFA4) and lysozyme C (LYZ), presented different expression levels in periodontitis patients compared with healthy subjects. The relative expression level of DEFA4 appeared to be a protective factor against periodontitis.
Title: Antimicrobial peptide gene expression in periodontitis patients: A pilot study.
The findings suggest that the F57I mutation affects the aggregation process of lysozyme resulting in the formation of cytotoxic species and that SAP is able to prevent cell death in the F57I flies by preventing accumulation of toxic F57I structures.
Title: Serum Amyloid P Component Ameliorates Neurological Damage Caused by Expressing a Lysozyme Variant in the Central Nervous System of Drosophila melanogaster.
the location of specific mutations is an important factor in determining the native-state dynamical properties of human lysozyme
Title: The Significance of the Location of Mutations for the Native-State Dynamics of Human Lysozyme.
rhamnolipid (RL) secreted by Pseudomonas aeruginosa (PA) accelerates proteolysis of lysozyme.
Title: Human Lysozyme Peptidase Resistance Is Perturbed by the Anionic Glycolipid Biosurfactant Rhamnolipid Produced by the Opportunistic Pathogen Pseudomonas aeruginosa.

Submit: New GeneRIF Correction See all GeneRIFs (62)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH123998 (e-PCR)
- UniSTS:136208

RH123999 (e-PCR)
- UniSTS:136209

PMC156606P3 (e-PCR)
- UniSTS:271410

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

RH45271 (e-PCR)
- UniSTS:10912

G59852 (e-PCR)
- UniSTS:137137

GDB:384857 (e-PCR)
- UniSTS:157110

D12S1417 (e-PCR)
- UniSTS:66021

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables lysozyme activity	IBA Inferred from Biological aspect of Ancestor more info
enables lysozyme activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in antimicrobial humoral response	TAS Traceable Author Statement more info
involved_in defense response to Gram-negative bacterium	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to Gram-positive bacterium	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to Gram-positive bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in inflammatory response	TAS Traceable Author Statement more info	PubMed
involved_in killing of cells of another organism	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in azurophil granule lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	TAS Traceable Author Statement more info	PubMed
located_in specific granule lumen	TAS Traceable Author Statement more info
located_in tertiary granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: lysozyme C

Names: 1,4-beta-N-acetylmuramidase C; c-type lysozyme; lysozyme F1

NP_000230.1

EC 3.2.1.17

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.