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NEU1 neuraminidase 1 [ Homo sapiens (human) ]

Gene ID: 4758, updated on 9-Dec-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
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Genomic context

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

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-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)

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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.

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_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)