NEU3 - neuraminidase 3 Gene

Also Known as SIAL3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10825

About NEU3

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:74,980,515-75,020,676 (from NCBI)

This gene has 7 transcripts (splice variants), 333 orthologues and 3 paralogues. Ubiquitous expression in testis (RPKM 5.8), prostate (RPKM 5.1) and 25 other tissues.

Summary

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]

NEU3 Products (9)

mRNA Protein Name
NM_001367860.1 NP_001354789.1 sialidase-3 isoform a
NM_001367861.1 NP_001354790.1 sialidase-3 isoform b
NM_001367862.1 NP_001354791.1 sialidase-3 isoform b
NM_001367863.1 NP_001354792.1 sialidase-3 isoform c
NM_001367864.1 NP_001354793.1 sialidase-3 isoform c
NM_001367865.1 NP_001354794.1 sialidase-3 isoform d
NM_001367866.1 NP_001354795.1 sialidase-3 isoform e
NM_001367867.2 NP_001354796.1 sialidase-3 isoform f
NM_006656.6 NP_006647.3 sialidase-3 isoform a
Molecular Function GO Annotation Evidence References Source
enables alpha-sialidase activity IDA
IDA: Inferred from direct assay
12730204 GOA
enables exo-alpha-sialidase activity IDA
IDA: Inferred from direct assay
10861246 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17334392 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within carbohydrate metabolic process IDA
IDA: Inferred from direct assay
12730204 GOA
involved in ganglioside catabolic process IDA
IDA: Inferred from direct assay
10861246 GOA
involved in negative regulation of clathrin-dependent endocytosis IDA
IDA: Inferred from direct assay
26251452 GOA
involved in oligosaccharide catabolic process IDA
IDA: Inferred from direct assay
10861246 GOA
involved in positive regulation of epidermal growth factor receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
17334392 GOA
Cellular Component GO Annotation Evidence References Source
located in early endosome membrane IDA
IDA: Inferred from direct assay
26251452 GOA
located in lysosomal membrane IDA
IDA: Inferred from direct assay
26251452 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
12730204 GOA
located in recycling endosome membrane IDA
IDA: Inferred from direct assay
26251452 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NEU3 Protein Structure

BNR_2

BNR_2: BNR repeat-like domain (70 - 411)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 461 a.a.
Protein Preferred Names Protein Names

sialidase-3

  • N-acetyl-alpha-neuraminidase 3

Related Diseases

Diseases Alias
Galactosialidosis
  • Goldberg Syndrome

  • Neuraminidase Deficiency With Beta-Galactosidase Deficiency

  • Ppca Deficiency

  • GSL

  • Lysosomal Protective Protein Deficiency

  • Cathepsin A Deficiency

  • Neuraminidase/Beta-Galactosidase Expression

  • Protective Protein/Cathepsin A Deficiency

  • Ngbe

  • Cathepsin A Deficiency Of

  • Lysosomal Protective Protein Deficiency Of

  • Deficiency Of Cathepsin A

  • Neuraminidase Beta-Galactosidase Deficiency

  • Protective Protein Cathepsin A Deficiency

Glycoproteinosis
  • Sialidosis

  • Mucolipidosis Type I

  • Mucolipidoses

  • Cherry Red Spot Myoclonus Syndrome

  • Mucolipidosis I

  • Myoclonus Cherry Red Spot Syndrome

  • Type I Mucolipidosis

  • Lipomucopolysaccharidosis

  • Disorders Of Glycoprotein Metabolism

  • Glycoprotein Storage Disorder

Mucolipidosis
Tay-Sachs Disease
  • Hexosaminidase A Deficiency

  • TSD

  • Hexa Deficiency

  • Gm2 Gangliosidosis, Type 1

  • Hexosaminidase Alpha-Subunit Deficiency

  • Gm2-Gangliosidosis, Several Forms

  • Gm2-Gangliosidosis, B, B1, Ab Variant

  • B Variant Gm2 Gangliosidosis

  • Sphingolipidosis, Tay-Sachs

  • Gm2-Gangliosidosis, Type I

  • B Variant Gm2-Gangliosidosis

  • Hex A Pseudodeficiency

  • Hexa Disorders

  • Beta-Hexosaminidase A Deficiency

  • Gm2 Gangliosidosis, Type I

  • Gangliosidosis Gm2 , Type 1

  • Gm2 Gangliosidosis, B, B1 Variant

  • Gm2-Gangliosidosis 1

  • GM2G1

  • Gm2-Gangliosidosis B Variant

  • Tay-Sachs Disease Pseudo-Ab Variant

  • Tay-Sachs Disease Variant B1

  • Gangliosidoses, Gm2

Gm2-Gangliosidosis, Ab Variant
  • Hexosaminidase Activator Deficiency

  • Tay-Sachs Disease, Ab Variant

  • Gm2 Gangliosidosis, Ab Variant

  • Gm2 Activator Deficiency

  • Tay-Sachs Disease, Variant Ab

  • Tay-Sachs Disease Ab Variant

  • Ab Variant Gm2-Gangliosidosis

  • Tay-Sachs Variant Ab

  • Ab Variant

  • Activator Deficiency/Gm2 Gangliosidosis

  • Activator-Deficient Tay-Sachs Disease

  • Gm2 Activator Deficiency Disease

  • Gm2 Gangliosidosis, Type Ab

  • Gm2-Gangliosidosis Ab

  • GM2GAB

  • Gm2-Gangliosidosis Ab Variant

  • Gangliosidosis Gm2 Ab Variant

  • Gm2-Gangliosidosis, Variant Ab

Gm2 Gangliosidosis
  • Gangliosidosis Gm2

  • Gangliosidoses, Gm2

Sandhoff Disease
  • Total Hexosaminidase Deficiency

  • Hexosaminidases A And B Deficiency

  • Sandhoff Disease, Infantile, Juvenile, And Adult Forms

  • Beta-Hexosaminidase-Beta-Subunit Deficiency

  • Gm2 Gangliosidosis, Type 2

  • Hexosaminidase A And B Deficiency Disease

  • Sandhoff-Jatzkewitz-Pilz Disease

  • Gm2 Gangliosidosis, Type Ii

  • Sandhoff Disease, Infantile Form

  • Sandhoff Disease, Adult Form

  • Sandhoff Disease, Juvenile Form

  • Gm2-Gangliosidosis, Type Ii

  • Sandhoff Jatzkewitz Disease

  • Type Ii Gm2 Gangliosidosis

  • Gm2 Gangliosidosis, 0 Variant

  • Gm2 Gangliosidosis 0 Variant

  • Hexosaminidases A And B Deficiency, Infantile Form

  • Infantile Gm2 Gangliosidosis 0 Variant

  • Adult Gm2 Gangliosidosis 0 Variant

  • Hexosaminidases A And B Deficiency, Adult Form

  • Hexosaminidases A And B Deficiency, Juvenile Form

  • Juvenile Gm2 Gangliosidosis 0 Variant

  • Gm2-Gangliosidosis 2

  • GM2G2

  • Hexosaminidase A And B Deficiency

  • Sd

Ovarian Clear Cell Adenocarcinoma
Gangliosidosis
  • Gangliosidoses

Gm1 Gangliosidosis
  • Beta-Galactosidase Deficiency

  • Gangliosidosis Gm1

  • Deficiency Of Beta-Galactosidase

  • Beta Galactosidase 1 Deficiency

  • Beta-Galactosidosis

  • Glb 1 Deficiency

  • Beta-Galactosidase-1 Deficiency

  • Beta-Galactosidase-1 Deficiency

  • Glb1 Deficiency

  • Landing Disease

  • Gangliosidosis, Gm1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus NEU3 MGD MGI:1355305
Canis familiaris NEU3 VGNC VGNC:52272
Macaca mulatta NEU3 VGNC VGNC:75318
Rattus norvegicus NEU3 RGD RGD:619881
Felis catus NEU3 VGNC VGNC:81972
Bos taurus NEU3 VGNC VGNC:54889
Others NEU3 NCBI