• Gene id: 129807

Gene Summary

• Gene Symbol: NEU4   Gene   UCSC   Ensembl
• Gene name: neuraminidase 4
• Alternate names: sialidase-4, N-acetyl-alpha-neuraminidase 4, neuraminidase 4 (sialidase),
• Gene location: 2q37.3 (241809192: 241817412)     Exons: 6     NC_000002.12
• Gene summary(Entrez): 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 trans
• OMIM: 120260

Protein Summary

• Protein general information: Q8WWR8  
  • Name: Sialidase 4 (EC 3.2.1.18) (N acetyl alpha neuraminidase 4)
  • Length: 484  
  • Mass: 51572
  • Tissue specificity: Ubiquitous with higher expression in heart, skeletal muscle, liver and placenta. {ECO
• Sequence:

  MGVPRTPSRTVLFERERTGLTYRVPSLLPVPPGPTLLAFVEQRLSPDDSHAHRLVLRRGTLAGGSVRWGALHVLG
  TAALAEHRSMNPCPVHDAGTGTVFLFFIAVLGHTPEAVQIATGRNAARLCCVASRDAGLSWGSARDLTEEAIGGA
  VQDWATFAVGPGHGVQLPSGRLLVPAYTYRVDRRECFGKICRTSPHSFAFYSDDHGRTWRCGGLVPNLRSGECQL
  AAVDGGQAGSFLYCNARSPLGSRVQALSTDEGTSFLPAERVASLPETAWGCQGSIVGFPAPAPNRPRDDSWSVGP
  GSPLQPPLLGPGVHEPPEEAAVDPRGGQVPGGPFSRLQPRGDGPRQPGPRPGVSGDVGSWTLALPMPFAAPPQSP
  TWLLYSHPVGRRARLHMGIRLSQSPLDPRSWTEPWVIYEGPSGYSDLASIGPAPEGGLVFACLYESGARTSYDEI
  SFCTFSLREVLENVPASPKPPNLGDKPRGCCWPS

• Structural information:
  • Interpro: IPR011040  IPR026946  IPR026856  IPR036278  
  • STRING: ENSP00000320318
• Other Databases: GeneCards:  NEU4  Malacards:  NEU4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0006689	ganglioside catabolic process	IBA	biological process
GO:0005764	lysosome	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0009313	oligosaccharide catabolic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004308	exo-alpha-sialidase activity	IBA	molecular function
GO:0006689	ganglioside catabolic process	IDA	biological process
GO:0009313	oligosaccharide catabolic process	IDA	biological process
GO:0006516	glycoprotein catabolic process	IDA	biological process
GO:0004308	exo-alpha-sialidase activity	IDA	molecular function
GO:0004308	exo-alpha-sialidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0016042	lipid catabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0052794	exo-alpha-(2->3)-sialidase activity	IEA	molecular function
GO:0052795	exo-alpha-(2->6)-sialidase activity	IEA	molecular function
GO:0004308	exo-alpha-sialidase activity	IEA	molecular function
GO:0052796	exo-alpha-(2->8)-sialidase activity	IEA	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004308	exo-alpha-sialidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0019866	organelle inner membrane	IDA	cellular component
GO:0004308	exo-alpha-sialidase activity	IDA	molecular function
GO:0005764	lysosome	IDA	NOT|cellular component
GO:0005764	lysosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00600	Sphingolipid metabolism
hsa00511	Other glycan degradation

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq