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

Summary

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Official Symbol: NEU1provided by HGNC
Official Full Name: sialidase 1 (lysosomal sialidase)provided by HGNC
Primary source: 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]

Genomic context

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Location :: 6p21.3

Sequence :: Chromosome: 6; NC_000006.11 (31826829..31830709, complement)

See NEU1 in Epigenomics, MapViewer

Chromosome 6 - NC_000006.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Weak anchorage of NEU1 and NEU3 to the plasma membrane and their loss during erythrocyte life could be a tool to preserve the cellular sialic acid content to avoid early aging of erythrocyte and processes of cell aggregation in the capillaries.
Title: Identification of lysosomal sialidase NEU1 and plasma membrane sialidase NEU3 in human erythrocytes.
Data indicate that sialidases Neu1 and Neu3 are present on sperm, and their activity is required for capacitation and zona pellucida binding.
Title: Sialidases on mammalian sperm mediate deciduous sialylation during capacitation.
Data show that NEU1 was immunolocalized to both the plasma membrane and the perinuclear region, and NEU3 was detected both in the cytosol and nucleus.
Title: NEU1 and NEU3 sialidase activity expressed in human lung microvascular endothelia: NEU1 restrains endothelial cell migration, whereas NEU3 does not.
human airway epithelia express catalytically active NEU1 sialidase that regulates EGFR- and MUC1-dependent signaling and bacterial adhesion.
Title: NEU1 sialidase expressed in human airway epithelia regulates epidermal growth factor receptor (EGFR) and MUC1 protein signaling.
Neuraminidase 1 as a modulator of cell receptors. (Review)
Title: Where catabolism meets signalling: neuraminidase 1 as a modulator of cell receptors.
a novel Neu1 and MMP9 cross-talk in alliance with TLR4 on the cell surface that is essential for ligand activation of TLRs and subsequent cellular signaling.
Title: Neu1 sialidase and matrix metalloproteinase-9 cross-talk is essential for Toll-like receptor activation and cellular signaling.
colocalized with CD18 in PMNs; could be a physiologic source of the enzymatic activity that removes sialyl residues on beta2 integrin and ICAM-1, resulting in their enhanced interaction
Title: Endogenous PMN sialidase activity exposes activation epitope on CD11b/CD18 which enhances its binding interaction with ICAM-1.
Data show that Neu-1 siRNA blocks the process of GM(3)/LacCer conversion.
Title: Elastin peptides signaling relies on neuraminidase-1-dependent lactosylceramide generation.
The genetic characterization of the two patients showed one known [c. 679G > A (p.G227R)] NEU1 missense mutation (detected in P2), and the new c.807 + 1G > A splicing defect
Title: Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.
Results describe the hydrodynamic properties of PPCA, NEU1, and a complex of the two proteins and identified multiple binding sites on both proteins.
Title: Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization.

Submit: New GeneRIF Correction See all (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

HIV-1 protein interactions

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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 Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
Q99519	P10619	CTSA	HPRD	PubMed
Q99519	P68104	EEF1A1	HPRD	PubMed
Q99519	P16278	GLB1	HPRD	PubMed
BioGRID:110831	BioGRID:111472	CTSA	BioGRID	PubMed	Affinity Capture-Western; Co-fractionation
BioGRID:110831	BioGRID:108237	EEF1A1	BioGRID	PubMed	Two-hybrid
BioGRID:110831	BioGRID:108860	GALNS	BioGRID	PubMed	Co-purification
BioGRID:110831	BioGRID:108984	GLB1	BioGRID	PubMed	Reconstituted Complex
BioGRID:110831	BioGRID:115331	HDAC5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110831	BioGRID:109929	JUNB	BioGRID	PubMed	Two-hybrid
BioGRID:110831	BioGRID:109940	KCNA2	BioGRID	PubMed	Biochemical Activity
BioGRID:110831	BioGRID:109942	KCNA4	BioGRID	PubMed	Biochemical Activity
BioGRID:110831	BioGRID:110169	LIG4	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:110831	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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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...
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
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

General gene information

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Markers

D6S1884 (e-PCR)
- UniSTS:37465

RH18309 (e-PCR)
- UniSTS:8575

D6S1197E (e-PCR)
- UniSTS:65005

Genotypes

See NEU1 SNP Geneview Report
See NEU1 SNP Genotype Report
See NEU1 SNP Variation Viewer Report

Homology

Homologs of the NEU1 gene: The NEU1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

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	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
glycosphingolipid metabolic process	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
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	TAS Traceable Author Statement more info	PubMed
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: sialidase-1

Names: sialidase-1; G9 sialidase; exo-alpha-sialidase; lysosomal sialidase; acetylneuraminyl hydrolase; N-acetyl-alpha-neuraminidase 1

NP_000425.1

EC 3.2.1.18

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

NG_008201.1 RefSeqGene

Range

5001..8881

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000434.3 → NP_000425.1 sialidase-1 precursor

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:62 – 410
Blast Score: 431

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:88 – 380
Blast Score: 491

BNR_2; BNR repeat-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 ALT_REF_LOCI_1

Genomic

NT_167244.1 Reference GRCh37.p10 ALT_REF_LOCI_1

Range

3141584..3145464, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh37.p10 ALT_REF_LOCI_2

Genomic

NT_113891.2 Reference GRCh37.p10 ALT_REF_LOCI_2

Range

3336576..3340456, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh37.p10 ALT_REF_LOCI_3

Genomic

NT_167245.1 Reference GRCh37.p10 ALT_REF_LOCI_3

Range

3112415..3116295, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh37.p10 ALT_REF_LOCI_4

Genomic

NT_167246.1 Reference GRCh37.p10 ALT_REF_LOCI_4

Range

3169888..3173768, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh37.p10 ALT_REF_LOCI_5

Genomic

NT_167247.1 Reference GRCh37.p10 ALT_REF_LOCI_5

Range

3206707..3210587, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh37.p10 ALT_REF_LOCI_6

Genomic

NT_167248.1 Reference GRCh37.p10 ALT_REF_LOCI_6

Range

3120620..3124500, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh37.p10 ALT_REF_LOCI_7

Genomic

NT_167249.1 Reference GRCh37.p10 ALT_REF_LOCI_7

Range

3159577..3163457, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000006.11 Reference GRCh37.p10 Primary Assembly

Range

31826829..31830709, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000138.1 Alternate HuRef

Range

31612642..31616522, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018917.1 Alternate CHM1_1.0

Range

31744021..31747901, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01038091.1 (2275..6155)	None
genomic	AF134726.1	AAD21814.1
genomic	AL662834.8 (123103..126983)	None
genomic	AL671762.10 (66899..70779)	None
genomic	AL844853.23 (13176..17056)	None
genomic	AMYH01016220.1 (4650..8530)	None
genomic	AY559729.1	AAT11275.1
genomic	AY559730.1	AAT11276.1
genomic	AY559731.1	AAT11277.1
genomic	BA000025.2	BAB63297.1
genomic	BX005460.8 (4877..8757)	None
genomic	CH471081.1	EAX03536.1
		EAX03537.1
genomic	CR388202.9 (52135..56015)	None
genomic	CR759784.6 (17987..21867)	None
genomic	CR933877.4 (18434..22314)	None
genomic	CR936237.6 (2166..6046)	None
mRNA	AB209011.1	BAD92248.1
mRNA	AF040958.1	AAB96774.1
mRNA	AK290966.1	BAF83655.1
mRNA	AK313006.1	BAG35842.1
mRNA	BC000722.2	AAH00722.1
mRNA	BC011900.2	AAH11900.1
mRNA	BT007206.1	AAP35870.1
mRNA	CA428930.1	None
mRNA	CR456717.1	CAG32998.1
mRNA	CR541916.1	CAG46714.1
mRNA	DB122914.1	None
mRNA	U84246.1	AAD09239.1
mRNA	X78687.1	CAA55356.1
other-genetic	DQ890716.2	ABM81642.1
other-genetic	DQ892186.2	ABM83112.1
other-genetic	DQ893896.2	ABM84822.1
other-genetic	DQ895380.2	ABM86306.1