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Protein

Sialidase-1

Gene

NEU1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

Catalytic activityi

Hydrolysis of alpha-(2->3)-, alpha-(2->6)-, alpha-(2->8)- glycosidic linkages of terminal sialic acid residues in oligosaccharides, glycoproteins, glycolipids, colominic acid and synthetic substrates.3 Publications

pH dependencei

Optimum pH is 4.6.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei78SubstrateBy similarity1
Binding sitei97SubstrateBy similarity1
Active sitei103Proton acceptorBy similarity1
Binding sitei264SubstrateBy similarity1
Binding sitei280SubstrateBy similarity1
Binding sitei341SubstrateBy similarity1
Active sitei370NucleophileBy similarity1
Active sitei394Sequence analysis1

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

Keywordsi

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

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

Protein family/group databases

CAZyiGH33 Glycoside Hydrolase Family 33

Names & Taxonomyi

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
Gene namesi
Name:NEU1
Synonyms:NANH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000204386.10
HGNCiHGNC:7758 NEU1
MIMi608272 gene
neXtProtiNX_Q99519

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, Lysosome, Membrane

Pathology & Biotechi

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.
See also OMIM:256550
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_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
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

DisGeNETi4758
MalaCardsiNEU1
MIMi256550 phenotype
OpenTargetsiENSG00000204386
Orphaneti93400 Congenital sialidosis type 2
93399 Juvenile sialidosis type 2
812 Sialidosis type 1
PharmGKBiPA31560

Chemistry databases

ChEMBLiCHEMBL2726
DrugBankiDB00198 Oseltamivir

Polymorphism and mutation databases

BioMutaiNEU1
DMDMi17368612

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 471 PublicationAdd BLAST47
ChainiPRO_000001202648 – 415Sialidase-1Add BLAST368

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi186N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi343N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi352N-linked (GlcNAc...) asparagine1 Publication1

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

EPDiQ99519
MaxQBiQ99519
PaxDbiQ99519
PeptideAtlasiQ99519
PRIDEiQ99519
ProteomicsDBi78308

PTM databases

GlyConnecti1743
iPTMnetiQ99519
PhosphoSitePlusiQ99519

Expressioni

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

BgeeiENSG00000204386 Expressed in 218 organ(s), highest expression level in islet of Langerhans
CleanExiHS_NEU1
ExpressionAtlasiQ99519 baseline and differential
GenevisibleiQ99519 HS

Organism-specific databases

HPAiHPA015634
HPA021506

Interactioni

Subunit structurei

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

Binary interactionsi

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

Protein-protein interaction databases

BioGridi110831, 14 interactors
CORUMiQ99519
IntActiQ99519, 24 interactors
STRINGi9606.ENSP00000364782

Chemistry databases

BindingDBiQ99519

Structurei

3D structure databases

ProteinModelPortaliQ99519
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati112 – 123BNR 1Add BLAST12
Repeati172 – 183BNR 2Add BLAST12
Repeati231 – 242BNR 3Add BLAST12
Repeati347 – 358BNR 4Add BLAST12

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi77 – 80FRIP motif4
Motifi412 – 415Internalization signal4

Domaini

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

Sequence similaritiesi

Belongs to the glycosyl hydrolase 33 family.Curated

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IE33 Eukaryota
COG4409 LUCA
GeneTreeiENSGT00720000108878
HOGENOMiHOG000007651
HOVERGENiHBG057314
InParanoidiQ99519
KOiK01186
OMAiASWHYGS
OrthoDBiEOG091G0HAW
PhylomeDBiQ99519
TreeFamiTF331063

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

Sequence (1+)i

Sequence statusi: Complete.

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
Checksum:i360E60A256DEA07F
GO

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:
A0A0G2JKS5A0A0G2JKS5_HUMAN
Sialidase-1
NEU1
72Annotation score:

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:
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
UniGeneiHs.520037

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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

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
UniGeneiHs.520037

3D structure databases

ProteinModelPortaliQ99519
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110831, 14 interactors
CORUMiQ99519
IntActiQ99519, 24 interactors
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
MaxQBiQ99519
PaxDbiQ99519
PeptideAtlasiQ99519
PRIDEiQ99519
ProteomicsDBi78308

Protocols and materials databases

DNASUi4758
Structural Biology KnowledgebaseSearch...

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

CTDi4758
DisGeNETi4758
EuPathDBiHostDB:ENSG00000204386.10
GeneCardsiNEU1
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
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE33 Eukaryota
COG4409 LUCA
GeneTreeiENSGT00720000108878
HOGENOMiHOG000007651
HOVERGENiHBG057314
InParanoidiQ99519
KOiK01186
OMAiASWHYGS
OrthoDBiEOG091G0HAW
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

ChiTaRSiNEU1 human
GeneWikiiNEU1
GenomeRNAii4758
PROiPR:Q99519
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000204386 Expressed in 218 organ(s), highest expression level in islet of Langerhans
CleanExiHS_NEU1
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
ProtoNetiSearch...

Entry informationi

Entry nameiNEUR1_HUMAN
AccessioniPrimary (citable) accession number: Q99519
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: May 1, 1997
Last modified: November 7, 2018
This is version 192 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  6. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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