1. Gene
  2. NEU3 - neuraminidase 3 Gene

NEU3 - neuraminidase 3 Gene

中文名称:神经氨酸酶 3

种属: Homo sapiens

同用名: SIAL3

基因 ID: 10825 | 基因类型: protein coding

关于 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.

功能概要

该基因产物属于糖水解酶家族,可从糖蛋白和糖脂中去除唾液酸残基。它位于质膜中,其活性对神经节苷脂具有特异性。它可能在调节脂质双层的神经节苷脂含量方面发挥作用。[RefSeq 提供,2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables alpha-sialidase activity IDA
IDA: 通过直接分析推断
12730204 GOA
enables exo-alpha-sialidase activity IDA
IDA: 通过直接分析推断
10861246 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17334392 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within carbohydrate metabolic process IDA
IDA: 通过直接分析推断
12730204 GOA
involved in ganglioside catabolic process IDA
IDA: 通过直接分析推断
10861246 GOA
involved in negative regulation of clathrin-dependent endocytosis IDA
IDA: 通过直接分析推断
26251452 GOA
involved in oligosaccharide catabolic process IDA
IDA: 通过直接分析推断
10861246 GOA
involved in positive regulation of epidermal growth factor receptor signaling pathway IMP
IMP: 通过突变表型推断
17334392 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in early endosome membrane IDA
IDA: 通过直接分析推断
26251452 GOA
located in lysosomal membrane IDA
IDA: 通过直接分析推断
26251452 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
12730204 GOA
located in recycling endosome membrane IDA
IDA: 通过直接分析推断
26251452 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

NEU3 蛋白结构

BNR_2

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 461 a.a.
蛋白主名 其他名称

sialidase-3

N-acetyl-alpha-neuraminidase 3

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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