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    NEU1 neuraminidase 1 [ Homo sapiens (human) ]

    Gene ID: 4758, updated on 23-Mar-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NEU1 in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31857659..31862821, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (31710899..31716061, complement)
    105.20220307 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

    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 Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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-(2->3)-sialidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables exo-alpha-(2->6)-sialidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables exo-alpha-(2->8)-sialidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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)

    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_000434.4NP_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:62410
      Sialidase_non-viral; Non-viral sialidases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)