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The protein encoded by this gene belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosaccharides, and gangliosides. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2009]
NEU4 (Neuraminidase 4) is a Protein Coding gene. Diseases associated with NEU4 include Galactosialidosis and Charcot-Marie-Tooth Disease, Axonal, Type 2V. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (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 NEU3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
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GO:0004308 | exo-alpha-sialidase activity | IEA,IDA | 14962670 |
GO:0005515 | protein binding | IPI | 16189514 |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0016798 | hydrolase activity, acting on glycosyl bonds | IEA | -- |
GO:0052794 | exo-alpha-(2->3)-sialidase activity | IEA,IDA | 15847605 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
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GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005739 | mitochondrion | IEA | -- |
GO:0005741 | mitochondrial outer membrane | IEA | -- |
GO:0005743 | mitochondrial inner membrane | IEA | -- |
GO:0005764 | NOT lysosome | IDA | 14962670 |
SuperPathway | Contained pathways | ||
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1 | Metabolism |
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2 | Sphingolipid metabolism | ||
3 | Synthesis of substrates in N-glycan biosythesis | ||
4 | Metabolism of proteins | ||
5 | Other glycan degradation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006516 | glycoprotein catabolic process | IEA,IDA | 15213228 |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006687 | glycosphingolipid metabolic process | TAS | -- |
GO:0006689 | ganglioside catabolic process | IEA,IDA | 15213228 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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CE(20:2(6Z,9Z)) |
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4201-62-1, 77715-45-8 |
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Galactosylceramide (d18:1/16:0) |
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Galactosylceramide (d18:1/18:0) |
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Galactosylceramide (d18:1/18:1(9Z)) |
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Galactosylceramide (d18:1/20:0) |
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This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
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Cow (Bos Taurus) |
Mammalia | NEU4 30 31 |
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OneToOne | |
Mouse (Mus musculus) |
Mammalia | Neu4 30 17 31 |
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OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Neu4 30 |
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Platypus (Ornithorhynchus anatinus) |
Mammalia | NEU4 31 |
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OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NEU4 31 |
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OneToOne | |
Chicken (Gallus gallus) |
Aves | NEU4 30 31 |
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OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NEU4 31 |
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OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100486976 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | neu4 30 31 |
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OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
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rs11545301 | - |
p.Gly301Arg |
Variant ID | Type | Subtype | PubMed ID |
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dgv165e55 | CNV | loss | 17911159 |
dgv4200n100 | CNV | loss | 25217958 |
dgv4201n100 | CNV | gain | 25217958 |
esv2664751 | CNV | deletion | 23128226 |
esv4746 | CNV | loss | 18987735 |
esv989515 | CNV | insertion | 20482838 |
nsv1002941 | CNV | gain | 25217958 |
nsv1006733 | CNV | gain | 25217958 |
nsv10232 | CNV | gain+loss | 18304495 |
nsv470533 | CNV | loss | 18288195 |
nsv584982 | CNV | loss | 21841781 |
nsv584991 | CNV | loss | 21841781 |
nsv584996 | CNV | gain | 21841781 |
nsv955301 | CNV | deletion | 24416366 |
nsv997984 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
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galactosialidosis |
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charcot-marie-tooth disease, axonal, type 2v |
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gm2-gangliosidosis, ab variant |
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glycoproteinosis |
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developmental and epileptic encephalopathy 15 |
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