U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

NEU1 neuraminidase 1 [ Homo sapiens (human) ]

Gene ID: 4758, updated on 10-Dec-2024

Summary

Go to the top of the page Help
Official Symbol
NEU1provided by HGNC
Official Full Name
neuraminidase 1provided by HGNC
Primary source
HGNC:HGNC:7758
See related
Ensembl:ENSG00000204386 MIM:608272; AllianceGenome:HGNC:7758
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
NEU; NANH; SIAL1
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 39.2), placenta (RPKM 29.4) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See NEU1 in Genome Data Viewer
Location:
6p21.33
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31857659..31862821, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (31710899..31716061, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31825436..31830598, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, C/D box 48 Neighboring gene small nucleolar RNA host gene 32 Neighboring gene small nucleolar RNA, C/D box 52 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:31830779-31831404 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31831405-31832028 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31832029-31832653 Neighboring gene solute carrier family 44 member 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31838055-31838988 Neighboring gene EHMT2 and SLC44A4 antisense RNA 1 Neighboring gene euchromatic histone lysine methyltransferase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31864618-31865314 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:31865398-31865992

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus. Canafoglia L, et al. Neurology, 2014 Jun 3. PMID 24808020
  2. A longitudinal study of Taiwanese sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome. Lai SC, et al. Eur J Neurol, 2009 Aug. PMID 19473359
  3. Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. Caciotti A, et al. J Neurol, 2009 Nov. PMID 19568825
  4. Pediatric bithalamic gliomas have a distinct epigenetic signature and frequent EGFR exon 20 insertions resulting in potential sensitivity to targeted kinase inhibition. Mondal G, et al. Acta Neuropathol, 2020 Jun. PMID 32303840, Free PMC Article
  5. Sialidase NEU1 suppresses progression of human bladder cancer cells by inhibiting fibronectin-integrin α5β1 interaction and Akt signaling pathway. Zhou X, et al. Cell Commun Signal, 2020 Mar 12. PMID 32164705, Free PMC Article

See all (156) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Inhibition of neuraminidase-1 sialidase activity by interfering peptides impairs insulin receptor activity in vitro and glucose homeostasis in vivo.
    Title: Inhibition of neuraminidase-1 sialidase activity by interfering peptides impairs insulin receptor activity in vitro and glucose homeostasis in vivo.
  2. HDAC1-Mediated Downregulation of NEU1 Exacerbates the Aggressiveness of Cervical Cancer.
    Title: HDAC1-Mediated Downregulation of NEU1 Exacerbates the Aggressiveness of Cervical Cancer.
  3. [The expression of neuraminidase-1 in Ewing sarcoma and its impact on sarcoma cell proliferation and migration].
    Title: [The expression of neuraminidase-1 in Ewing sarcoma and its impact on sarcoma cell proliferation and migration].
  4. Desialylation of ATG5 by sialidase (NEU1) promotes macrophages autophagy and exacerbates inflammation under hypoxia.
    Title: Desialylation of ATG5 by sialidase (NEU1) promotes macrophages autophagy and exacerbates inflammation under hypoxia.
  5. Deciphering the Action of Neuraminidase in Glioblastoma Models.
    Title: Deciphering the Action of Neuraminidase in Glioblastoma Models.
  6. PAUF Induces Migration of Human Pancreatic Cancer Cells Exclusively via the TLR4/MyD88/NF-kappaB Signaling Pathway.
    Title: PAUF Induces Migration of Human Pancreatic Cancer Cells Exclusively via the TLR4/MyD88/NF-κB Signaling Pathway.
  7. Selective histone methyltransferase G9a inhibition reduces metastatic development of Ewing sarcoma through the epigenetic regulation of NEU1.
    Title: Selective histone methyltransferase G9a inhibition reduces metastatic development of Ewing sarcoma through the epigenetic regulation of NEU1.
  8. Membrane cholesterol regulates TRPV4 function, cytoskeletal expression, and the cellular response to tension.
    Title: Membrane cholesterol regulates TRPV4 function, cytoskeletal expression, and the cellular response to tension.
  9. Discovery of NEU1 as a candidatedone. renal biomarker for proliferative lupus nephritis chronicity.
    Title: Discovery of NEU1 as a candidatedone. renal biomarker for proliferative lupus nephritis chronicity.
  10. LOW VULNERABILITY OF THE POSTERIOR EYE SEGMENT TO SARS-COV-2 INFECTION: Chorioretinal SARS-CoV-2 Vulnerability.
    Title: LOW VULNERABILITY OF THE POSTERIOR EYE SEGMENT TO SARS-COV-2 INFECTION: Chorioretinal SARS-CoV-2 Vulnerability.
Submit: New GeneRIF Correction See all GeneRIFs (89)

Phenotypes

Go to the top of the page Help

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
Sialidosis type 2
MedGen: C4282398 OMIM: 256550 GeneReviews: Not available
Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Replication interactions

Interaction Pubs
Knockdown of sialidase 1 (lysosomal sialidase; NEU1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Removal of sialic acids from HIV-1 gp120 with neuraminidase (NA) enhances mannose-binding lectin (MBL) binding PubMed
env The desialylation of HIV-1 gp120 with neuraminidase greatly augments the initial virus-cell interaction, leading to remarkably enhanced viral replication and cytopathogenicity PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ93471

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alpha-sialidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables exo-alpha-sialidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables exo-alpha-sialidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables exo-alpha-sialidase activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in ganglioside catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in oligosaccharide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in oligosaccharide catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cell junction IDA
Inferred from Direct Assay
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in lysosomal lumen TAS
Traceable Author Statement
more info
  
located_in lysosomal membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in lysosome IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in specific granule lumen TAS
Traceable Author Statement
more info
  

General protein information

Go to the top of the page Help
Preferred Names
sialidase-1
Names
G9 sialidase
N-acetyl-alpha-neuraminidase 1
acetylneuraminyl hydrolase
exo-alpha-sialidase
lysosomal sialidase
sialidase 1 (lysosomal sialidase)
NP_000425.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_008201.1 RefSeqGene

    Range
    5112..10274
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000434.4 → NP_000425.1  sialidase-1 precursor

    See identical proteins and their annotated locations for NP_000425.1

    Status: REVIEWED

    Source sequence(s)
    AL671762, BC000722, CA428930
    Consensus CDS
    CCDS4723.1
    UniProtKB/Swiss-Prot
    Q99519
    UniProtKB/TrEMBL
    A0A1U9X836, A8K4K1, Q5JQI0
    Related
    ENSP00000364782.4, ENST00000375631.5
    Conserved Domains (1) summary
    cd15482
    Location:62 → 410
    Sialidase_non-viral; Non-viral sialidases

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    31857659..31862821 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_167244.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    3190275..3195437 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    3335076..3340239 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    3105437..3110599 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

    Range
    3162875..3168037 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

    Range
    3199729..3204891 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

    Range
    3113631..3118793 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

    Range
    3158886..3164048 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    31710899..31716061 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99519.1 GenPept UniProtKB/Swiss-Prot:Q99519

Gene LinkOut

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

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous