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NEU1 sialidase 1 (lysosomal sialidase) [ Homo sapiens (human) ]

Gene ID: 4758, updated on 7-Dec-2014
Official Symbol
NEU1provided by HGNC
Official Full Name
sialidase 1 (lysosomal sialidase)provided by HGNC
Primary source
HGNC:HGNC:7758
Locus tag
DAAP-222I20.1
See related
Ensembl:ENSG00000204386; HPRD:09751; MIM:608272; Vega:OTTHUMG00000031284
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]
See NEU1 in Epigenomics, MapViewer
Location:
6p21.3
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (31859052..31862932, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31826829..31830709, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene chromosome 6 open reading frame 48 Neighboring gene small nucleolar RNA, C/D box 48 Neighboring gene small nucleolar RNA, C/D box 52 Neighboring gene solute carrier family 44, member 4 Neighboring gene euchromatic histone-lysine N-methyltransferase 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ93471

Gene Ontology Provided by GOA

Function Evidence Code Pubs
exo-alpha-(2->3)-sialidase activity IEA
Inferred from Electronic Annotation
more info
 
exo-alpha-(2->6)-sialidase activity IEA
Inferred from Electronic Annotation
more info
 
exo-alpha-(2->8)-sialidase activity IEA
Inferred from Electronic Annotation
more info
 
exo-alpha-sialidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
glycosphingolipid metabolic process TAS
Traceable Author Statement
more info
 
lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
oligosaccharide catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
sphingolipid metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cell junction IDA
Inferred from Direct Assay
more info
 
cytoplasmic membrane-bounded vesicle IEA
Inferred from Electronic Annotation
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
sialidase-1
Names
sialidase-1
G9 sialidase
exo-alpha-sialidase
lysosomal sialidase
acetylneuraminyl hydrolase
N-acetyl-alpha-neuraminidase 1
NP_000425.1

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 

    Range
    5001..8881
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000434.3NP_000425.1  sialidase-1 precursor

    See proteins identical to NP_000425.1

    Status: REVIEWED

    Source sequence(s)
    BC000722, CA428930, DB122914
    Consensus CDS
    CCDS4723.1
    UniProtKB/TrEMBL
    Q5JQI0
    UniProtKB/Swiss-Prot
    Q99519
    Related
    ENSP00000364782, OTTHUMP00000029419, ENST00000375631, OTTHUMT00000076616
    Conserved Domains (2) summary
    cd00260
    Location:62410
    Sialidase; Sialidases or neuraminidases function to bind and hydrolyze terminal sialic acid residues from various glycoconjugates as well as playing roles in pathogenesis, bacterial nutrition and cellular interactions. They have a six-bladed, beta-propeller fold ...
    pfam13088
    Location:88380
    BNR_2; BNR repeat-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    31859052..31862932
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 ALT_REF_LOCI_1

Genomic

  1. NT_167244.2 

    Range
    3191668..3195548
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 

    Range
    3336470..3340350
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 

    Range
    3106830..3110710
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 

    Range
    3164268..3168148
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 

    Range
    3201122..3205002
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 

    Range
    3115024..3118904
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 

    Range
    3160279..3164159
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    31828970..31832850
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    31612642..31616522
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)