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

Gene ID: 4758, updated on 25-Jan-2015
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]
Orthologs
See NEU1 in 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

  • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
    Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
  • Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein, organism-specific biosystem (from REACTOME)
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein, organism-specific biosystemN-linked glycosylation commences with the 14-step synthesis of a dolichol lipid-linked oligosaccharide (LLO) consisting of 14 sugars (2 core GlcNAcs, 9 mannoses and 3 terminal GlcNAcs). This pathway ...
  • Defective ALG1 causes ALG1-CDG (CDG-1k), organism-specific biosystem (from REACTOME)
    Defective ALG1 causes ALG1-CDG (CDG-1k), organism-specific biosystemChitobiosyldiphosphodolichol beta-mannosyltransferase (ALG1) normally tranfers a mannose moiety to the lipid-linked oligosaccharide (LLO aka N-glycan precursor) which is required for subsequent N-gly...
  • Defective ALG11 causes ALG11-CDG (CDG-1p), organism-specific biosystem (from REACTOME)
    Defective ALG11 causes ALG11-CDG (CDG-1p), organism-specific biosystemGDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase (ALG11) transfers the fourth and fifth mannoses (Man) to the N-glycan precursor in an alpha-1,2 orientation. These additions are the last ...
  • Defective ALG12 causes ALG12-CDG (CDG-1g), organism-specific biosystem (from REACTOME)
    Defective ALG12 causes ALG12-CDG (CDG-1g), organism-specific biosystemDol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase (ALG12) (Chantret et al. 2002) normally tranfers the 8th mannose moiety to the lipid-linked oligosaccharide (LLO aka N-glycan precursor)...
  • Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS), organism-specific biosystem (from REACTOME)
    Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS), organism-specific biosystemUDP-N-acetylglucosamine transferase subunit ALG14 homolog (ALG14) forms a complex with ALG13 protein and is required for the addition of the second N-acetylglucosamine (GlcNAc) to the lipid linked ol...
  • Defective ALG2 causes ALG2-CDG (CDG-1i), organism-specific biosystem (from REACTOME)
    Defective ALG2 causes ALG2-CDG (CDG-1i), organism-specific biosystemAlpha 1,3/1,6 mannosyltransferase ALG2 (ALG2) is a bifunctional mannosyltransferase normally tranfers a mannose moiety to the lipid linked oligosaccharide (LLO aka N glycan precursor) which is requir...
  • Defective ALG3 causes ALG3-CDG (CDG-1d), organism-specific biosystem (from REACTOME)
    Defective ALG3 causes ALG3-CDG (CDG-1d), organism-specific biosystemDol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase (ALG3) adds the sixth mannose (although the first to be derived from dolichyl-phosphate-mannose, DOLPman) to the lipid-linked oligosacch...
  • Defective ALG6 causes ALG6-CDG (CDG-1c), organism-specific biosystem (from REACTOME)
    Defective ALG6 causes ALG6-CDG (CDG-1c), organism-specific biosystemDolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase (ALG6) normally adds the first glucose moiety to the lipid-linked oligosaccharide precursor (LLO aka N-glycan precursor) which is requ...
  • Defective ALG8 causes ALG8-CDG (CDG-1h), organism-specific biosystem (from REACTOME)
    Defective ALG8 causes ALG8-CDG (CDG-1h), organism-specific biosystemThe probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase (ALG8) (Stanchi et al. 2001, Chantret et al. 2003) normally adds the second glucose moiety to the lipid-linked oligos...
  • Defective ALG9 causes ALG9-CDG (CDG-1l), organism-specific biosystem (from REACTOME)
    Defective ALG9 causes ALG9-CDG (CDG-1l), organism-specific biosystemAlpha-1,2-mannosyltransferase ALG9 (ALG9) normally catalyses the transfer of mannose to the lipid-linked oligosaccharide (LLO) precursor. It adds the 7th and 9th mannose moieties to LLO. Defects in A...
  • Defective B4GALT1 causes B4GALT1-CDG (CDG-2d), organism-specific biosystem (from REACTOME)
    Defective B4GALT1 causes B4GALT1-CDG (CDG-2d), organism-specific biosystemCongenital disorders of glycosylation (CDG, previously called carbohydrate-deficient glycoprotein syndromes, CDGSs), are a group of hereditary multisystem disorders. They are characterized biochemica...
  • Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2, organism-specific biosystem (from REACTOME)
    Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2, organism-specific biosystemUDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase (DPAGT1) catalyses the initial committed step in the biosynthesis of dolichyl pyrophosphate-oligosaccharides. Defects...
  • Defective MAN1B1 causes MRT15, organism-specific biosystem (from REACTOME)
    Defective MAN1B1 causes MRT15, organism-specific biosystemEndoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase (MAN1B1) normally trims single mannose residues from misfolded glycoproteins, targeting them for degradation and thus providing a ...
  • Defective MGAT2 causes MGAT2-CDG (CDG-2a), organism-specific biosystem (from REACTOME)
    Defective MGAT2 causes MGAT2-CDG (CDG-2a), organism-specific biosystemAlpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase (MGAT2) normally catalyses the transfer of a GlcNAc moiety onto the alpha-1,6 mannose of an alpha-1,4 branch of oligomannose N-g...
  • Defective MOGS causes MOGS-CDG (CDG-2b), organism-specific biosystem (from REACTOME)
    Defective MOGS causes MOGS-CDG (CDG-2b), organism-specific biosystemAfter the lipid-linked oligosaccharide (LLO) precursor is attached to the protein, the outer alpha-1,2-linked glucose is removed by by mannosyl-oligosaccharide glucosidase (MOGS). This is a mandatory...
  • Defective MPDU1 causes MPDU1-CDG (CDG-1f), organism-specific biosystem (from REACTOME)
    Defective MPDU1 causes MPDU1-CDG (CDG-1f), organism-specific biosystemMannose-P-dolichol utilisation defect 1 protein (MPDU1) is required for the efficient utilisation of the mannose donor dolichyl-phospho-mannose (DOLPman) in the synthesis of both lipid-linked oligosa...
  • Defective RFT1 causes RFT1-CDG (CDG-1n), organism-specific biosystem (from REACTOME)
    Defective RFT1 causes RFT1-CDG (CDG-1n), organism-specific biosystemThe N-glycan precursor is flipped across the ER membrane, moving it from the cytosolic side to the ER lumenal side. The exact mechanism of this translocation is not well understood but protein RFT1 h...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with N-glycosylation of proteins, organism-specific biosystem (from REACTOME)
    Diseases associated with N-glycosylation of proteins, organism-specific biosystemCongenital disorders of glycosylation (CDGs) are a group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosacchari...
  • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
    Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
  • Glycosphingolipid metabolism, organism-specific biosystem (from REACTOME)
    Glycosphingolipid metabolism, organism-specific biosystemThe steps involved in the synthesis of glycosphingolipids (sphingolipids with one or more sugars attached) are annotated here (Gault et al. 2010).
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Other glycan degradation, organism-specific biosystem (from KEGG)
    Other glycan degradation, organism-specific biosystem
    Other glycan degradation
  • Other glycan degradation, conserved biosystem (from KEGG)
    Other glycan degradation, conserved biosystem
    Other glycan degradation
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Sialic acid metabolism, organism-specific biosystem (from REACTOME)
    Sialic acid metabolism, organism-specific biosystemSialic acids are a family of 9 carbon alpha-keto acids that are usually present in the non reducing terminal of glycoconjuates on the cell surface of eukaryotic cells. These sialylated conjugates pla...
  • Sphingolipid metabolism, organism-specific biosystem (from KEGG)
    Sphingolipid metabolism, organism-specific biosystem
    Sphingolipid metabolism
  • Sphingolipid metabolism, organism-specific biosystem (from REACTOME)
    Sphingolipid metabolism, organism-specific biosystemSphingolipids are derivatives of long chain sphingoid bases such as sphingosine (trans-1,3-dihydroxy 2-amino-4-octadecene), an 18-carbon unsaturated amino alcohol which is the most abundant sphingoid...
  • Sphingolipid metabolism, conserved biosystem (from KEGG)
    Sphingolipid metabolism, conserved biosystem
    Sphingolipid metabolism
  • Synthesis of substrates in N-glycan biosythesis, organism-specific biosystem (from REACTOME)
    Synthesis of substrates in N-glycan biosythesis, organism-specific biosystemReactions for the synthesis of the small nucleotide-linked sugar substrates that are used in the synthesis of the N-glycan precursor and in the later steps of glycosylation are annotated here.All the...
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
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
dolichol-linked oligosaccharide biosynthetic process TAS
Traceable Author Statement
more info
 
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 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein N-linked glycosylation via asparagine TAS
Traceable Author Statement
more info
 
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)