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Entry version 200 (16 Oct 2019)
Sequence version 1 (01 May 1997)
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Protein

Sialidase-1

Gene

NEU1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moities from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage.2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>pH dependencei

Optimum pH is 4.6.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei78SubstrateBy similarity1
Binding sitei97SubstrateBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei103Proton acceptorBy similarity1
Binding sitei264SubstrateBy similarity1
Binding sitei280SubstrateBy similarity1
Binding sitei341SubstrateBy similarity1
Active sitei370NucleophileBy similarity1
Active sitei394Sequence analysis1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • alpha-sialidase activity Source: UniProtKB
  • exo-alpha-(2->3)-sialidase activity Source: UniProtKB-EC
  • exo-alpha-(2->6)-sialidase activity Source: UniProtKB-EC
  • exo-alpha-(2->8)-sialidase activity Source: UniProtKB-EC
  • exo-alpha-sialidase activity Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGlycosidase, Hydrolase
Biological processCarbohydrate metabolism, Lipid degradation, Lipid metabolism

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.2.1.18 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1660662 Glycosphingolipid metabolism
R-HSA-4085001 Sialic acid metabolism
R-HSA-4341670 Defective NEU1 causes sialidosis
R-HSA-6798695 Neutrophil degranulation

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
Q99519

Protein family/group databases

Carbohydrate-Active enZymes

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CAZyi
GH33 Glycoside Hydrolase Family 33

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Sialidase-1 (EC:3.2.1.18)
Alternative name(s):
Acetylneuraminyl hydrolase
G9 sialidase
Lysosomal sialidase
N-acetyl-alpha-neuraminidase 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NEU1
Synonyms:NANH
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7758 NEU1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
608272 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q99519

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, Lysosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Sialidosis (SIALIDOSIS)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionLysosomal storage disease occurring as two types with various manifestations. Type 1 sialidosis (cherry red spot-myoclonus syndrome or normosomatic type) is late-onset and it is characterized by the formation of cherry red macular spots in childhood, progressive debilitating myoclonus, insiduous visual loss and rarely ataxia. The diagnosis can be confirmed by the screening of the urine for sialyloligosaccharides. Type 2 sialidosis (also known as dysmorphic type) occurs as several variants of increasing severity with earlier age of onset. It is characterized by the presence of abnormal somatic features including coarse facies and dysostosis multiplex, vertebral deformities, mental retardation, cherry-red spot/myoclonus, sialuria, cytoplasmic vacuolation of peripheral lymphocytes, bone marrow cells and conjunctival epithelial cells.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01220754V → M in SIALIDOSIS; type 1; mild mutation as residual activity is still measurable. 1 Publication1
Natural variantiVAR_01220868G → V in SIALIDOSIS; type 2; less than 10% of activity. 3 Publications1
Natural variantiVAR_01746080P → L in SIALIDOSIS; type 2; no enzyme activity; retained in the endoplasmic reticulum / Golgi or rapidly degraded in the lysosomes. 1 PublicationCorresponds to variant dbSNP:rs104893985EnsemblClinVar.1
Natural variantiVAR_01220991L → R in SIALIDOSIS; type 2. 2 PublicationsCorresponds to variant dbSNP:rs104893972EnsemblClinVar.1
Natural variantiVAR_012210182S → G in SIALIDOSIS; type 1; normally processed. 3 PublicationsCorresponds to variant dbSNP:rs398123392EnsemblClinVar.1
Natural variantiVAR_012211217V → M in SIALIDOSIS; type 1; partial transport and residual transport activity. 2 PublicationsCorresponds to variant dbSNP:rs28940583EnsemblClinVar.1
Natural variantiVAR_012212219G → A in SIALIDOSIS; type 1; unable to reach the lysosomes. 1 PublicationCorresponds to variant dbSNP:rs754068739Ensembl.1
Natural variantiVAR_018076225R → P in SIALIDOSIS; type 2; impaired enzyme folding. 1 PublicationCorresponds to variant dbSNP:rs104893980EnsemblClinVar.1
Natural variantiVAR_012213227G → R in SIALIDOSIS; type 1 and juvenile type 2; catalytically inactive; retained in pre-lysosomal compartments. 3 PublicationsCorresponds to variant dbSNP:rs769765227EnsemblClinVar.1
Natural variantiVAR_012214231L → H in SIALIDOSIS; type 1; unable to reach the lysosomes. 1 PublicationCorresponds to variant dbSNP:rs762400331Ensembl.1
Natural variantiVAR_012215240W → R in SIALIDOSIS; type 2; no enzyme activity; retained in the endoplasmic reticulum / Golgi or rapidly degraded in the lysosomes. 2 PublicationsCorresponds to variant dbSNP:rs104893978EnsemblClinVar.1
Natural variantiVAR_012216243G → R in SIALIDOSIS; type 1; no enzyme activity and no transport to the lysosome. 2 PublicationsCorresponds to variant dbSNP:rs104893983EnsemblClinVar.1
Natural variantiVAR_012217260F → Y in SIALIDOSIS; infantile type 2; catalytically inactive; rapid intralysosomal degradation. 4 PublicationsCorresponds to variant dbSNP:rs104893977EnsemblClinVar.1
Natural variantiVAR_012219270L → F in SIALIDOSIS; type 2; reduction in enzyme activity; rapid intralysosomal degradation. 2 Publications1
Natural variantiVAR_012218270L → P in SIALIDOSIS. 1 Publication1
Natural variantiVAR_012220294R → S in SIALIDOSIS; type 1; mild mutation as residual activity is still measurable. 2 PublicationsCorresponds to variant dbSNP:rs190549838Ensembl.1
Natural variantiVAR_012221298A → V in SIALIDOSIS; type 2; less than 10% of activity; rapid intralysosomal degradation; impaired enzyme folding. 4 PublicationsCorresponds to variant dbSNP:rs104893981EnsemblClinVar.1
Natural variantiVAR_017461316P → S in SIALIDOSIS; type 1; no enzyme activity; retained in the endoplasmic reticulum / Golgi or rapidly degraded in the lysosomes. 1 PublicationCorresponds to variant dbSNP:rs104893979EnsemblClinVar.1
Natural variantiVAR_012222328G → S in SIALIDOSIS; type 1; reduction in enzyme activity. 3 PublicationsCorresponds to variant dbSNP:rs534846786Ensembl.1
Natural variantiVAR_012223335P → Q in SIALIDOSIS; type 2; unable to reach the lysosomes. 1 PublicationCorresponds to variant dbSNP:rs749996046Ensembl.1
Natural variantiVAR_018077341R → G in SIALIDOSIS; type 2; affects substrate binding or catalysis. 1 PublicationCorresponds to variant dbSNP:rs751458617Ensembl.1
Natural variantiVAR_012224363L → P in SIALIDOSIS; infantile type 2; unable to reach the lysosomes. 4 PublicationsCorresponds to variant dbSNP:rs193922915EnsemblClinVar.1
Natural variantiVAR_012225370Y → C in SIALIDOSIS; infantile type 2; catalytically inactive. 1 PublicationCorresponds to variant dbSNP:rs1310267862Ensembl.1
Natural variantiVAR_012226400Y → YHY in SIALIDOSIS; type 1; mild mutation as residual activity is still measurable. 1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi412Y → A: Correct sorting to the plasma membrane but no endocytosis and internalization. 1 Publication1
Mutagenesisi413G → A: Correct sorting to the plasma membrane but no endocytosis and internalization. 1 Publication1
Mutagenesisi415L → A: Correct sorting to the plasma membrane but no endocytosis and internalization. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
4758

MalaCards human disease database

More...
MalaCardsi
NEU1
MIMi256550 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000204386

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
93400 Congenital sialidosis type 2
93399 Juvenile sialidosis type 2
812 Sialidosis type 1

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31560

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q99519

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2726

Drug and drug target database

More...
DrugBanki
DB00198 Oseltamivir

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NEU1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
17368612

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 471 PublicationAdd BLAST47
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001202648 – 415Sialidase-1Add BLAST368

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi186N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi343N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi352N-linked (GlcNAc...) asparagine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.3 Publications
Phosphorylation of tyrosine within the internalization signal results in inhibition of sialidase internalization and blockage on the plasma membrane.

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q99519

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q99519

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q99519

MaxQB - The MaxQuant DataBase

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MaxQBi
Q99519

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q99519

PeptideAtlas

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PeptideAtlasi
Q99519

PRoteomics IDEntifications database

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PRIDEi
Q99519

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
78308

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1743

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q99519

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q99519

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in pancreas, followed by skeletal muscle, kidney, placenta, heart, lung and liver. Weakly expressed in brain.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000204386 Expressed in 218 organ(s), highest expression level in islet of Langerhans

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q99519 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q99519 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA015634
HPA021506

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with cathepsin A (protective protein), beta-galactosidase and N-acetylgalactosamine-6-sulfate sulfatase in a multienzyme complex.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
CREB3O43889-23EBI-721517,EBI-625022

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
110831, 16 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q99519

Protein interaction database and analysis system

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IntActi
Q99519, 26 interactors

Molecular INTeraction database

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MINTi
Q99519

STRING: functional protein association networks

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STRINGi
9606.ENSP00000364782

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q99519

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati112 – 123BNR 1Add BLAST12
Repeati172 – 183BNR 2Add BLAST12
Repeati231 – 242BNR 3Add BLAST12
Repeati347 – 358BNR 4Add BLAST12

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi77 – 80FRIP motif4
Motifi412 – 415Internalization signal4

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

A C-terminal internalization signal (YGTL) appears to allow the targeting of plasma membrane proteins to endosomes.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the glycosyl hydrolase 33 family.Curated

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IE33 Eukaryota
COG4409 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000182944

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000007651

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q99519

KEGG Orthology (KO)

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KOi
K01186

Identification of Orthologs from Complete Genome Data

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OMAi
FSPDECQ

Database of Orthologous Groups

More...
OrthoDBi
652179at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q99519

TreeFam database of animal gene trees

More...
TreeFami
TF331063

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011040 Sialidase
IPR026856 Sialidase_fam
IPR036278 Sialidase_sf

The PANTHER Classification System

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PANTHERi
PTHR10628 PTHR10628, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF13088 BNR_2, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50939 SSF50939, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q99519-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTGERPSTAL PDRRWGPRIL GFWGGCRVWV FAAIFLLLSL AASWSKAEND
60 70 80 90 100
FGLVQPLVTM EQLLWVSGRQ IGSVDTFRIP LITATPRGTL LAFAEARKMS
110 120 130 140 150
SSDEGAKFIA LRRSMDQGST WSPTAFIVND GDVPDGLNLG AVVSDVETGV
160 170 180 190 200
VFLFYSLCAH KAGCQVASTM LVWSKDDGVS WSTPRNLSLD IGTEVFAPGP
210 220 230 240 250
GSGIQKQREP RKGRLIVCGH GTLERDGVFC LLSDDHGASW RYGSGVSGIP
260 270 280 290 300
YGQPKQENDF NPDECQPYEL PDGSVVINAR NQNNYHCHCR IVLRSYDACD
310 320 330 340 350
TLRPRDVTFD PELVDPVVAA GAVVTSSGIV FFSNPAHPEF RVNLTLRWSF
360 370 380 390 400
SNGTSWRKET VQLWPGPSGY SSLATLEGSM DGEEQAPQLY VLYEKGRNHY
410
TESISVAKIS VYGTL
Length:415
Mass (Da):45,467
Last modified:May 1, 1997 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i360E60A256DEA07F
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PIF4E9PIF4_HUMAN
Sialidase-1
NEU1
267Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JKS5A0A0G2JKS5_HUMAN
Sialidase-1
NEU1
72Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01220754V → M in SIALIDOSIS; type 1; mild mutation as residual activity is still measurable. 1 Publication1
Natural variantiVAR_01220868G → V in SIALIDOSIS; type 2; less than 10% of activity. 3 Publications1
Natural variantiVAR_01746080P → L in SIALIDOSIS; type 2; no enzyme activity; retained in the endoplasmic reticulum / Golgi or rapidly degraded in the lysosomes. 1 PublicationCorresponds to variant dbSNP:rs104893985EnsemblClinVar.1
Natural variantiVAR_04920388G → A Does not affect sialidase activity. 1 PublicationCorresponds to variant dbSNP:rs34712643EnsemblClinVar.1
Natural variantiVAR_07955790L → F Does not affect sialidase activity. 1 PublicationCorresponds to variant dbSNP:rs374556080Ensembl.1
Natural variantiVAR_01220991L → R in SIALIDOSIS; type 2. 2 PublicationsCorresponds to variant dbSNP:rs104893972EnsemblClinVar.1
Natural variantiVAR_079558179V → A1 PublicationCorresponds to variant dbSNP:rs150302766Ensembl.1
Natural variantiVAR_012210182S → G in SIALIDOSIS; type 1; normally processed. 3 PublicationsCorresponds to variant dbSNP:rs398123392EnsemblClinVar.1
Natural variantiVAR_079559208R → Q1 PublicationCorresponds to variant dbSNP:rs375104221Ensembl.1
Natural variantiVAR_079560210P → A Does not affect sialidase activity. 1 PublicationCorresponds to variant dbSNP:rs151177689Ensembl.1
Natural variantiVAR_079561217V → A Significant decrease in sialidase activity; absence of lysosomal localization; mislocalization to the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs146850952Ensembl.1
Natural variantiVAR_012211217V → M in SIALIDOSIS; type 1; partial transport and residual transport activity. 2 PublicationsCorresponds to variant dbSNP:rs28940583EnsemblClinVar.1
Natural variantiVAR_012212219G → A in SIALIDOSIS; type 1; unable to reach the lysosomes. 1 PublicationCorresponds to variant dbSNP:rs754068739Ensembl.1
Natural variantiVAR_079562222T → M Does not affect sialidase activity. 1 PublicationCorresponds to variant dbSNP:rs201684013Ensembl.1
Natural variantiVAR_018076225R → P in SIALIDOSIS; type 2; impaired enzyme folding. 1 PublicationCorresponds to variant dbSNP:rs104893980EnsemblClinVar.1
Natural variantiVAR_012213227G → R in SIALIDOSIS; type 1 and juvenile type 2; catalytically inactive; retained in pre-lysosomal compartments. 3 PublicationsCorresponds to variant dbSNP:rs769765227EnsemblClinVar.1
Natural variantiVAR_012214231L → H in SIALIDOSIS; type 1; unable to reach the lysosomes. 1 PublicationCorresponds to variant dbSNP:rs762400331Ensembl.1
Natural variantiVAR_079563234D → N Significant decrease in sialidase activity; absence of lysosomal localization; mislocalization to the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs143868999Ensembl.1
Natural variantiVAR_012215240W → R in SIALIDOSIS; type 2; no enzyme activity; retained in the endoplasmic reticulum / Golgi or rapidly degraded in the lysosomes. 2 PublicationsCorresponds to variant dbSNP:rs104893978EnsemblClinVar.1
Natural variantiVAR_012216243G → R in SIALIDOSIS; type 1; no enzyme activity and no transport to the lysosome. 2 PublicationsCorresponds to variant dbSNP:rs104893983EnsemblClinVar.1
Natural variantiVAR_079564248G → S1 PublicationCorresponds to variant dbSNP:rs373311653Ensembl.1
Natural variantiVAR_079565252G → S Does not affect sialidase activity. 1 PublicationCorresponds to variant dbSNP:rs145177628Ensembl.1
Natural variantiVAR_012217260F → Y in SIALIDOSIS; infantile type 2; catalytically inactive; rapid intralysosomal degradation. 4 PublicationsCorresponds to variant dbSNP:rs104893977EnsemblClinVar.1
Natural variantiVAR_012219270L → F in SIALIDOSIS; type 2; reduction in enzyme activity; rapid intralysosomal degradation. 2 Publications1
Natural variantiVAR_012218270L → P in SIALIDOSIS. 1 Publication1
Natural variantiVAR_079566279A → T1 PublicationCorresponds to variant dbSNP:rs368320390Ensembl.1
Natural variantiVAR_012220294R → S in SIALIDOSIS; type 1; mild mutation as residual activity is still measurable. 2 PublicationsCorresponds to variant dbSNP:rs190549838Ensembl.1
Natural variantiVAR_012221298A → V in SIALIDOSIS; type 2; less than 10% of activity; rapid intralysosomal degradation; impaired enzyme folding. 4 PublicationsCorresponds to variant dbSNP:rs104893981EnsemblClinVar.1
Natural variantiVAR_017461316P → S in SIALIDOSIS; type 1; no enzyme activity; retained in the endoplasmic reticulum / Golgi or rapidly degraded in the lysosomes. 1 PublicationCorresponds to variant dbSNP:rs104893979EnsemblClinVar.1
Natural variantiVAR_012222328G → S in SIALIDOSIS; type 1; reduction in enzyme activity. 3 PublicationsCorresponds to variant dbSNP:rs534846786Ensembl.1
Natural variantiVAR_012223335P → Q in SIALIDOSIS; type 2; unable to reach the lysosomes. 1 PublicationCorresponds to variant dbSNP:rs749996046Ensembl.1
Natural variantiVAR_018077341R → G in SIALIDOSIS; type 2; affects substrate binding or catalysis. 1 PublicationCorresponds to variant dbSNP:rs751458617Ensembl.1
Natural variantiVAR_079567351S → R Does not affect sialidase activity. 1 PublicationCorresponds to variant dbSNP:rs377573360Ensembl.1
Natural variantiVAR_079568357R → Q1 PublicationCorresponds to variant dbSNP:rs139301823Ensembl.1
Natural variantiVAR_012224363L → P in SIALIDOSIS; infantile type 2; unable to reach the lysosomes. 4 PublicationsCorresponds to variant dbSNP:rs193922915EnsemblClinVar.1
Natural variantiVAR_012225370Y → C in SIALIDOSIS; infantile type 2; catalytically inactive. 1 PublicationCorresponds to variant dbSNP:rs1310267862Ensembl.1
Natural variantiVAR_012226400Y → YHY in SIALIDOSIS; type 1; mild mutation as residual activity is still measurable. 1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF040958 mRNA Translation: AAB96774.1
X78687 mRNA Translation: CAA55356.1
U84246 mRNA Translation: AAD09239.1
AF134726 Genomic DNA Translation: AAD21814.1
BA000025 Genomic DNA Translation: BAB63297.1
BT007206 mRNA Translation: AAP35870.1
BC000722 mRNA Translation: AAH00722.1
BC011900 mRNA Translation: AAH11900.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS4723.1

NCBI Reference Sequences

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RefSeqi
NP_000425.1, NM_000434.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000229725; ENSP00000229725; ENSG00000184494
ENST00000375631; ENSP00000364782; ENSG00000204386
ENST00000411774; ENSP00000399309; ENSG00000234846
ENST00000422978; ENSP00000408957; ENSG00000227129
ENST00000423382; ENSP00000401067; ENSG00000228691
ENST00000434496; ENSP00000409489; ENSG00000234343
ENST00000437432; ENSP00000403720; ENSG00000223957
ENST00000439648; ENSP00000408207; ENSG00000227315

Database of genes from NCBI RefSeq genomes

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GeneIDi
4758

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:4758

UCSC genome browser

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UCSCi
uc003nxq.5 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Wikipedia

Neuraminidase entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF040958 mRNA Translation: AAB96774.1
X78687 mRNA Translation: CAA55356.1
U84246 mRNA Translation: AAD09239.1
AF134726 Genomic DNA Translation: AAD21814.1
BA000025 Genomic DNA Translation: BAB63297.1
BT007206 mRNA Translation: AAP35870.1
BC000722 mRNA Translation: AAH00722.1
BC011900 mRNA Translation: AAH11900.1
CCDSiCCDS4723.1
RefSeqiNP_000425.1, NM_000434.3

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi110831, 16 interactors
CORUMiQ99519
IntActiQ99519, 26 interactors
MINTiQ99519
STRINGi9606.ENSP00000364782

Chemistry databases

BindingDBiQ99519
ChEMBLiCHEMBL2726
DrugBankiDB00198 Oseltamivir

Protein family/group databases

CAZyiGH33 Glycoside Hydrolase Family 33

PTM databases

GlyConnecti1743
iPTMnetiQ99519
PhosphoSitePlusiQ99519

Polymorphism and mutation databases

BioMutaiNEU1
DMDMi17368612

Proteomic databases

EPDiQ99519
jPOSTiQ99519
MassIVEiQ99519
MaxQBiQ99519
PaxDbiQ99519
PeptideAtlasiQ99519
PRIDEiQ99519
ProteomicsDBi78308

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
4758

Genome annotation databases

EnsembliENST00000229725; ENSP00000229725; ENSG00000184494
ENST00000375631; ENSP00000364782; ENSG00000204386
ENST00000411774; ENSP00000399309; ENSG00000234846
ENST00000422978; ENSP00000408957; ENSG00000227129
ENST00000423382; ENSP00000401067; ENSG00000228691
ENST00000434496; ENSP00000409489; ENSG00000234343
ENST00000437432; ENSP00000403720; ENSG00000223957
ENST00000439648; ENSP00000408207; ENSG00000227315
GeneIDi4758
KEGGihsa:4758
UCSCiuc003nxq.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4758
DisGeNETi4758

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NEU1
HGNCiHGNC:7758 NEU1
HPAiHPA015634
HPA021506
MalaCardsiNEU1
MIMi256550 phenotype
608272 gene
neXtProtiNX_Q99519
OpenTargetsiENSG00000204386
Orphaneti93400 Congenital sialidosis type 2
93399 Juvenile sialidosis type 2
812 Sialidosis type 1
PharmGKBiPA31560

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IE33 Eukaryota
COG4409 LUCA
GeneTreeiENSGT00950000182944
HOGENOMiHOG000007651
InParanoidiQ99519
KOiK01186
OMAiFSPDECQ
OrthoDBi652179at2759
PhylomeDBiQ99519
TreeFamiTF331063

Enzyme and pathway databases

BRENDAi3.2.1.18 2681
ReactomeiR-HSA-1660662 Glycosphingolipid metabolism
R-HSA-4085001 Sialic acid metabolism
R-HSA-4341670 Defective NEU1 causes sialidosis
R-HSA-6798695 Neutrophil degranulation
SABIO-RKiQ99519

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
NEU1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
NEU1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
4758
PharosiQ99519

Protein Ontology

More...
PROi
PR:Q99519

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000204386 Expressed in 218 organ(s), highest expression level in islet of Langerhans
ExpressionAtlasiQ99519 baseline and differential
GenevisibleiQ99519 HS

Family and domain databases

InterProiView protein in InterPro
IPR011040 Sialidase
IPR026856 Sialidase_fam
IPR036278 Sialidase_sf
PANTHERiPTHR10628 PTHR10628, 1 hit
PfamiView protein in Pfam
PF13088 BNR_2, 1 hit
SUPFAMiSSF50939 SSF50939, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNEUR1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q99519
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: May 1, 1997
Last modified: October 16, 2019
This is version 200 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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