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Aliases for NEU3 Gene

Aliases for NEU3 Gene

  • Neuraminidase 3 2 3 5
  • Sialidase 3 (Membrane Sialidase) 2 3
  • N-Acetyl-Alpha-Neuraminidase 3 3 4
  • Ganglioside Sialidase 3 4
  • Membrane Sialidase 3 4
  • EC 3.2.1.18 4 61
  • Neuraminidase 3, Membrane Sialidase 2
  • Sialidase-3 3
  • SIAL3 3

External Ids for NEU3 Gene

Previous GeneCards Identifiers for NEU3 Gene

  • GC11P077026
  • GC11P076238
  • GC11P074921
  • GC11P074425
  • GC11P074376
  • GC11P074699
  • GC11P070997

Summaries for NEU3 Gene

Entrez Gene Summary for NEU3 Gene

  • This gene product belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. It is localized in the plasma membrane, and its activity is specific for gangliosides. It may play a role in modulating the ganglioside content of the lipid bilayer. [provided by RefSeq, Jul 2008]

GeneCards Summary for NEU3 Gene

NEU3 (Neuraminidase 3) is a Protein Coding gene. Diseases associated with NEU3 include Galactosialidosis. Among its related pathways are Sphingolipid metabolism and Synthesis of substrates in N-glycan biosythesis. GO annotations related to this gene include exo-alpha-(2->3)-sialidase activity and exo-alpha-(2->8)-sialidase activity. An important paralog of this gene is NEU4.

UniProtKB/Swiss-Prot for NEU3 Gene

  • Plays a role in modulating the ganglioside content of the lipid bilayer at the level of membrane-bound sialyl glycoconjugates.

Gene Wiki entry for NEU3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NEU3 Gene

Genomics for NEU3 Gene

Regulatory Elements for NEU3 Gene

Enhancers for NEU3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G075145 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.4 +158.6 158639 2.9 CEBPG ZNF316 FOXK2 GATA2 SCRT2 ZNF652 SMAD5 ZNF10 HLF CEBPB SLCO2B1 ENSG00000255395 NEU3 TPBGL ARRB1 SPCS2 ZDHHC20P3
GH11G075174 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.4 +186.9 186918 1.5 HDAC1 USF1 L3MBTL2 BHLHE40 MAX USF2 MNT REST ZNF354B RAD51 NEU3 XRRA1 SPCS2 ARRB1 RNF169 ENSG00000255395 ZDHHC20P3
GH11G075327 2.1 FANTOM5 Ensembl ENCODE dbSUPER 6.2 +352.4 352353 26.4 MLX AGO1 DMAP1 YBX1 YY1 ZNF143 SP3 NFYC TBX21 GLIS1 GDPD5 ARRB1 SNORD15B KLHL35 NEU3 RPS3 ENSG00000254974 UVRAG SPCS2 DGAT2
GH11G075012 1.2 Ensembl ENCODE 7 +25.5 25514 2.5 PKNOX1 FOXA2 TBL1XR1 SIN3A RARA TCF12 EGR1 SCRT2 FOS CEBPB XRRA1 NEU3 PIR50270 PIR52683
GH11G075022 1.3 Ensembl ENCODE 6.3 +35.2 35241 2.1 FOXA2 ATF1 MLX ARID4B DMAP1 BRCA1 ZNF2 ZNF48 SLC30A9 ZNF143 XRRA1 SPCS2 OR2AT4 SLCO2B1 ENSG00000254429 NEU3 PIR50270 PIR37723
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NEU3 on UCSC Golden Path with GeneCards custom track

Promoters for NEU3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000042064 867 1600 HDGF AGO1 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF263 SP3 SP5

Genomic Location for NEU3 Gene

Chromosome:
11
Start:
74,988,134 bp from pter
End:
75,018,893 bp from pter
Size:
30,760 bases
Orientation:
Plus strand

Genomic View for NEU3 Gene

Genes around NEU3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEU3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NEU3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NEU3 Gene

Proteins for NEU3 Gene

  • Protein details for NEU3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQ49-NEUR3_HUMAN
    Recommended name:
    Sialidase-3
    Protein Accession:
    Q9UQ49
    Secondary Accessions:
    • A8K327
    • Q9NQE1

    Protein attributes for NEU3 Gene

    Size:
    428 amino acids
    Molecular mass:
    48252 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAB96131.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for NEU3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NEU3 Gene

Selected DME Specific Peptides for NEU3 Gene

Q9UQ49:
  • GCQGSVVS
  • TFAVGPGH

Post-translational modifications for NEU3 Gene

  • Ubiquitination at Lys44, posLast=7474, Lys154, Lys301, and posLast=426426
  • Modification sites at PhosphoSitePlus

Other Protein References for NEU3 Gene

Domains & Families for NEU3 Gene

Protein Domains for NEU3 Gene

Suggested Antigen Peptide Sequences for NEU3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UQ49

UniProtKB/Swiss-Prot:

NEUR3_HUMAN :
  • Belongs to the glycosyl hydrolase 33 family.
Family:
  • Belongs to the glycosyl hydrolase 33 family.
genes like me logo Genes that share domains with NEU3: view

No data available for Gene Families for NEU3 Gene

Function for NEU3 Gene

Molecular function for NEU3 Gene

GENATLAS Biochemistry:
neuraminidase 3,membrane sialidase
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 3.8.;
UniProtKB/Swiss-Prot CatalyticActivity:
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.
UniProtKB/Swiss-Prot Function:
Plays a role in modulating the ganglioside content of the lipid bilayer at the level of membrane-bound sialyl glycoconjugates.

Enzyme Numbers (IUBMB) for NEU3 Gene

Gene Ontology (GO) - Molecular Function for NEU3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004308 exo-alpha-sialidase activity TAS --
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
GO:0016997 alpha-sialidase activity IDA 12730204
GO:0052794 exo-alpha-(2->3)-sialidase activity ISS --
genes like me logo Genes that share ontologies with NEU3: view
genes like me logo Genes that share phenotypes with NEU3: view

Animal Models for NEU3 Gene

MGI Knock Outs for NEU3:

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NEU3 Gene

Localization for NEU3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEU3 Gene

Cell membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NEU3 gene
Compartment Confidence
plasma membrane 5
nucleus 2
cytosol 2
lysosome 2
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for NEU3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 10405317
GO:0016020 membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IBA --
genes like me logo Genes that share ontologies with NEU3: view

Pathways & Interactions for NEU3 Gene

genes like me logo Genes that share pathways with NEU3: view

Gene Ontology (GO) - Biological Process for NEU3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IDA 12730204
GO:0006629 lipid metabolic process IEA --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0006689 ganglioside catabolic process IDA 10861246
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with NEU3: view

No data available for SIGNOR curated interactions for NEU3 Gene

Drugs & Compounds for NEU3 Gene

(1) Drugs for NEU3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(55) Additional Compounds for NEU3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ganglioside GM1 (18:1/12:0)
  • 1-O-[O-(N-Acetyl-a-neuraminosyl)-(2)-O-[O-b-D-galactopyranosyl-(1)-2-(acetylamino)-2-deoxy-b-D-galactopyranosyl-(1)]-O-b-D-galactopyranosyl-(1)-b-D-glucopyranosyl]-Ceramide
  • 1-O-[O-(N-Acetyl-a-neuraminosyl)-(2->3)-O-[O-b-D galactopyranosyl-(1->3)-2-(acetylamino)-2-deoxy-b-D-galactopyranosyl-(1->4)]-O-b-D-galactopyranosyl-(1->4)-b-D-glucopyranosyl]-Ceramide
  • 1-O-[O-(N-Acetyl-alpha-neuraminosyl)-(2)-O-[O-beta-delta-galactopyranosyl-(1)-2-(acetylamino)-2-deoxy-beta-delta-galactopyranosyl-(1)]-O-beta-delta-galactopyranosyl-(1)-beta-delta-glucopyranosyl]-Ceramide
  • 1-O-[O-(N-Acetyl-alpha-neuraminosyl)-(2->3)-O-[O-beta-D galactopyranosyl-(1->3)-2-(acetylamino)-2-deoxy-beta-delta-galactopyranosyl-(1->4)]-O-beta-delta-galactopyranosyl-(1->4)-beta-delta-glucopyranosyl]-Ceramide
  • D-Galactosyl-1,3-beta-N-acetyl-D galactosaminyl-(N-acetylneuraminyl)-D-galactosyl-D-glucosyl-Nacylsphingosine
104443-62-1
Ganglioside GM1 (18:1/16:0)
  • 1-O-[O-(N-Acetyl-a-neuraminosyl)-(2)-O-[O-b-D-galactopyranosyl-(1)-2-(acetylamino)-2-deoxy-b-D-galactopyranosyl-(1)]-O-b-D-galactopyranosyl-(1)-b-D-glucopyranosyl]-Ceramide
  • 1-O-[O-(N-Acetyl-a-neuraminosyl)-(2->3)-O-[O-b-D galactopyranosyl-(1->3)-2-(acetylamino)-2-deoxy-b-D-galactopyranosyl-(1->4)]-O-b-D-galactopyranosyl-(1->4)-b-D-glucopyranosyl]-Ceramide
  • 1-O-[O-(N-Acetyl-alpha-neuraminosyl)-(2)-O-[O-beta-delta-galactopyranosyl-(1)-2-(acetylamino)-2-deoxy-beta-delta-galactopyranosyl-(1)]-O-beta-delta-galactopyranosyl-(1)-beta-delta-glucopyranosyl]-Ceramide
  • 1-O-[O-(N-Acetyl-alpha-neuraminosyl)-(2->3)-O-[O-beta-D galactopyranosyl-(1->3)-2-(acetylamino)-2-deoxy-beta-delta-galactopyranosyl-(1->4)]-O-beta-delta-galactopyranosyl-(1->4)-beta-delta-glucopyranosyl]-Ceramide
  • D-Galactosyl-1,3-beta-N-acetyl-D galactosaminyl-(N-acetylneuraminyl)-D-galactosyl-D-glucosyl-Nacylsphingosine
104443-62-1
Ganglioside GM1 (18:1/20:0)
  • 1-O-[O-(N-Acetyl-a-neuraminosyl)-(2)-O-[O-b-D-galactopyranosyl-(1)-2-(acetylamino)-2-deoxy-b-D-galactopyranosyl-(1)]-O-b-D-galactopyranosyl-(1)-b-D-glucopyranosyl]-Ceramide
  • 1-O-[O-(N-Acetyl-a-neuraminosyl)-(2->3)-O-[O-b-D galactopyranosyl-(1->3)-2-(acetylamino)-2-deoxy-b-D-galactopyranosyl-(1->4)]-O-b-D-galactopyranosyl-(1->4)-b-D-glucopyranosyl]-Ceramide
  • 1-O-[O-(N-Acetyl-alpha-neuraminosyl)-(2)-O-[O-beta-delta-galactopyranosyl-(1)-2-(acetylamino)-2-deoxy-beta-delta-galactopyranosyl-(1)]-O-beta-delta-galactopyranosyl-(1)-beta-delta-glucopyranosyl]-Ceramide
  • 1-O-[O-(N-Acetyl-alpha-neuraminosyl)-(2->3)-O-[O-beta-D galactopyranosyl-(1->3)-2-(acetylamino)-2-deoxy-beta-delta-galactopyranosyl-(1->4)]-O-beta-delta-galactopyranosyl-(1->4)-beta-delta-glucopyranosyl]-Ceramide
  • D-Galactosyl-1,3-beta-N-acetyl-D galactosaminyl-(N-acetylneuraminyl)-D-galactosyl-D-glucosyl-Nacylsphingosine
104443-62-1
Ganglioside GM1 (d18:0/12:0)
Ganglioside GM1 (d18:0/14:0)
genes like me logo Genes that share compounds with NEU3: view

Transcripts for NEU3 Gene

Unigene Clusters for NEU3 Gene

Sialidase 3 (membrane sialidase):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NEU3 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d
SP1: - - - -
SP2: -
SP3: - -
SP4:
SP5: - - -

Relevant External Links for NEU3 Gene

GeneLoc Exon Structure for
NEU3
ECgene alternative splicing isoforms for
NEU3

Expression for NEU3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NEU3 Gene

mRNA differential expression in normal tissues according to GTEx for NEU3 Gene

This gene is overexpressed in Muscle - Skeletal (x4.6).

Protein differential expression in normal tissues from HIPED for NEU3 Gene

This gene is overexpressed in Plasma (29.0), Esophagus (28.5), and Frontal cortex (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NEU3 Gene



NURSA nuclear receptor signaling pathways regulating expression of NEU3 Gene:

NEU3

SOURCE GeneReport for Unigene cluster for NEU3 Gene:

Hs.191074

mRNA Expression by UniProt/SwissProt for NEU3 Gene:

Q9UQ49-NEUR3_HUMAN
Tissue specificity: Highly expressed in skeletal muscle, testis, adrenal gland and thymus, followed by pancreas, liver, heart and thymus. Weakly expressed in kidney, placenta, brain and lung.

Evidence on tissue expression from TISSUES for NEU3 Gene

  • Nervous system(4.4)
  • Muscle(4.3)
  • Kidney(2)
genes like me logo Genes that share expression patterns with NEU3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NEU3 Gene

Orthologs for NEU3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NEU3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NEU3 34 35
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia NEU3 34 35
  • 88.53 (n)
cow
(Bos Taurus)
Mammalia NEU3 34 35
  • 87.05 (n)
mouse
(Mus musculus)
Mammalia Neu3 34 16 35
  • 77.62 (n)
rat
(Rattus norvegicus)
Mammalia Neu3 34
  • 77.38 (n)
chicken
(Gallus gallus)
Aves NEU3 34 35
  • 58.17 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 55 (a)
OneToMany
-- 35
  • 54 (a)
OneToMany
-- 35
  • 53 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496715 34
  • 58.83 (n)
zebrafish
(Danio rerio)
Actinopterygii neu3.1 34
  • 54.99 (n)
neu3.4 35
  • 47 (a)
OneToMany
neu3.2 35
  • 45 (a)
OneToMany
neu3.3 35
  • 43 (a)
OneToMany
neu3.5 35
  • 42 (a)
OneToMany
Species where no ortholog for NEU3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NEU3 Gene

ENSEMBL:
Gene Tree for NEU3 (if available)
TreeFam:
Gene Tree for NEU3 (if available)

Paralogs for NEU3 Gene

Paralogs for NEU3 Gene

(3) SIMAP similar genes for NEU3 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with NEU3: view

Variants for NEU3 Gene

Sequence variations from dbSNP and Humsavar for NEU3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000019795 -- 75,003,538(+) GATGC(A/G)AAAGG intron-variant
rs1000084599 -- 75,005,401(+) CCCTT(-/CTC)CTTGT intron-variant
rs1000119955 -- 74,996,125(+) CTCCC(A/G)CCTGG intron-variant
rs1000152639 -- 74,987,745(+) GAGGC(A/G)GAGCT upstream-variant-2KB
rs1000185936 -- 74,988,049(+) AGCAC(A/T)GGATT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for NEU3 Gene

Variant ID Type Subtype PubMed ID
nsv832210 CNV gain+loss 17160897

Variation tolerance for NEU3 Gene

Residual Variation Intolerance Score: 94.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.81; 58.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NEU3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NEU3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NEU3 Gene

Disorders for NEU3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NEU3 Gene - From: GeneCards

Disorder Aliases PubMed IDs
galactosialidosis
  • cathepsin a deficiency of
- elite association - COSMIC cancer census association via MalaCards
Search NEU3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NEU3

Genetic Association Database (GAD)
NEU3
Human Genome Epidemiology (HuGE) Navigator
NEU3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NEU3
genes like me logo Genes that share disorders with NEU3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NEU3 Gene

Publications for NEU3 Gene

  1. Cloning, expression, and chromosomal mapping of a human ganglioside sialidase. (PMID: 10405317) Wada T. … Miyagi T. (Biochem. Biophys. Res. Commun. 1999) 2 3 4 22 64
  2. Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane. (PMID: 10861246) Monti E. … Borsani G. (Biochem. J. 2000) 3 4 22 64
  3. Insight into substrate recognition and catalysis by the human neuraminidase 3 (NEU3) through molecular modeling and site-directed mutagenesis. (PMID: 20511247) Albohy A. … Cairo C.W. (Glycobiology 2010) 3 4 64
  4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 64
  5. Membrane type sialidase inhibits the megakaryocytic differentiation of human leukemia K562 cells. (PMID: 18339327) Jin U.H. … Kim C.H. (Biochim. Biophys. Acta 2008) 3 22 64

Products for NEU3 Gene

Sources for NEU3 Gene

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