NEU1 Gene

Name	sialidase 1 (lysosomal sialidase)
Description	The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nNeuraminidase‐1 (NEU1) is a sialidase enzyme that catalyzes the removal of terminal sialic acid residues from glycoproteins and glycolipids, thereby modulating the structure and function of cell surface receptors and other glycoconjugates. This activity is critical not only for the normal intralysosomal catabolism of sialoglycoconjugates but also for influencing receptor activation at the plasma membrane, directing cell signaling and homeostasis across diverse tissues."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn the immune system, NEU1 plays multifaceted roles by regulating the activation of receptors that control inflammatory and innate immune responses. During monocyte-to-macrophage differentiation, NEU1 expression is upregulated and a significant fraction is translocated to the cell surface where it participates in phagocytosis and cytokine production. For example, NEU1 translocation in platelets contributes to Fc‐independent activation and clearance in immune thrombocytopenia, while in neutrophils, NEU1‐mediated desialylation of integrin subunits enhances binding to endothelial adhesion molecules and promotes diapedesis. Moreover, NEU1 is a key effector in Toll-like receptor 4 activation via a cross-talk with matrix metalloproteinase-9 and G protein–coupled receptors, and it modulates CD36 sialylation to influence oxidized LDL uptake in macrophages—all processes that can amplify inflammatory responses."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nNEU1 also exerts important control over extracellular matrix remodeling and cell proliferation. Its activity at the cell surface—often in association with the elastin‐binding protein and protective protein/cathepsin A—facilitates elastogenesis by desialylating substrates to release elastin precursors. In smooth muscle and other cells, NEU1–mediated desialylation of integrins and growth factor receptors (including PDGF and IGF receptors) attenuates downstream mitogenic signaling and limits cell proliferation. In endothelial cells, overexpression of NEU1 reduces capillary‐like tube formation via desialylation of adhesion molecules (e.g. CD31), and reduced NEU1 expression in cancers is associated with enhanced metastatic behavior, as evidenced by studies in colon and ovarian cancer models. Collectively, these data reveal a dual role for NEU1 in controlling both the integrity of the extracellular matrix and cellular proliferation pathways."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "18"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition, NEU1 modulates receptor signaling in specialized epithelial and metabolic contexts. In airway epithelia, NEU1 is the predominant sialidase and regulates signaling by desialylating receptors such as the epidermal growth factor receptor and MUC1, thereby influencing bacterial adhesion and innate defense. NEU1 also contributes to the activation of the insulin receptor through cross-talk with matrix metalloproteinase-9, while its activity on sperm contributes to zona pellucida binding during fertilization. These diverse roles underscore NEU1’s importance in fine-tuning receptor function across multiple cell types."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "19", "end_ref": "22"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Volkan Seyrantepe, Helena Poupetova, Roseline Froissart, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular pathology of NEU1 gene in sialidosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.10268"}], "href": "https://doi.org/10.1002/humu.10268"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14517945"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14517945"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Nicholas M Stamatos, Feng Liang, Xinli Nan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Differential expression of endogenous sialidases of human monocytes during cellular differentiation into macrophages."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FEBS J (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1742-4658.2005.04679.x"}], "href": "https://doi.org/10.1111/j.1742-4658.2005.04679.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15885103"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15885103"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Alexey V Pshezhetsky, Aleksander Hinek "}, {"type": "b", "children": [{"type": "t", "text": "Where catabolism meets signalling: neuraminidase 1 as a modulator of cell receptors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Glycoconj J (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10719-011-9350-5"}], "href": "https://doi.org/10.1007/s10719-011-9350-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21928149"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21928149"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Feng Liang, Volkan Seyrantepe, Karine Landry, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Monocyte differentiation up-regulates the expression of the lysosomal sialidase, Neu1, and triggers its targeting to the plasma membrane via major histocompatibility complex class II-positive compartments."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M605633200"}], "href": "https://doi.org/10.1074/jbc.M605633200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16835219"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16835219"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Anthony Rusciani, Laurent Duca, Hervé Sartelet, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Desialylation is a mechanism of Fc-independent platelet clearance and a therapeutic target in immune thrombocytopenia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncomms8737"}], "href": "https://doi.org/10.1038/ncomms8737"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26185093"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26185093"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Irina Sieve, Melanie Ricke-Hoch, Martina Kasten, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A positive feedback loop between IL-1β, LPS and NEU1 may promote atherosclerosis by enhancing a pro-inflammatory state in monocytes and macrophages."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Vascul Pharmacol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.vph.2018.01.005"}], "href": "https://doi.org/10.1016/j.vph.2018.01.005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29371126"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29371126"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Charlotte Kawecki, Olivier Bocquet, Christian E H Schmelzer, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Lysosomal sialidase (neuraminidase-1) is targeted to the cell surface in a multiprotein complex that facilitates elastic fiber assembly."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M508736200"}], "href": "https://doi.org/10.1074/jbc.M508736200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16314420"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16314420"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Xinli Nan, Ivan Carubelli, Nicholas M Stamatos "}, {"type": "b", "children": [{"type": "t", "text": "Sialidase expression in activated human T lymphocytes influences production of IFN-gamma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Leukoc Biol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1189/jlb.1105692"}], "href": "https://doi.org/10.1189/jlb.1105692"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17028199"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17028199"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Gouri Yogalingam, Erik J Bonten, Diantha van de Vlekkert, et al. 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Synonyms	SIAL1, NANH
Proteins	NEUR1_HUMAN
NCBI Gene ID	4758
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

NEU1 has 9,188 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 115 datasets.

Click the + buttons to view associations for NEU1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

NEU1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of NEU1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of NEU1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of NEU1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of NEU1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of NEU1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of NEU1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of NEU1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of NEU1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of NEU1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of NEU1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with NEU1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with NEU1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of NEU1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of NEU1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of NEU1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with NEU1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of NEU1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of NEU1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing NEU1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with NEU1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	CORUM Protein Complexes	protein complexs containing NEU1 protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of NEU1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with NEU1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with NEU1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with NEU1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of NEU1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by NEU1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DGIdb Drug Targets 2026	interacting drugs for NEU1 protein from the DGIdb Drug Targets 2026 dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving NEU1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with NEU1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with NEU1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with NEU1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with NEU1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with NEU1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with NEU1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for NEU1 protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at NEU1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of NEU1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of NEU1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing NEU1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.