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  2. NEU4 - neuraminidase 4 Gene

NEU4 - neuraminidase 4 Gene

中文名称:神经氨酸酶 4

种属: Homo sapiens

基因 ID: 129807 | 基因类型: protein coding

关于 NEU4

Cytogenetic location: 2q37.3 Genomic coordinates (GRCh38): 2:241,809,193-241,817,413 (from NCBI)

This gene has 17 transcripts (splice variants), 1 gene allele, 179 orthologues and 3 paralogues. Biased expression in colon (RPKM 9.5), liver (RPKM 4.5) and 5 other tissues.

功能概要

该基因编码的蛋白质属于糖水解酶家族,可从糖蛋白、糖脂、寡糖和神经节苷脂等各种唾液酸衍生物中去除末端唾液酸残基。已经注意到该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2009 年 11 月]

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 基因产物(5)

mRNA Protein Name
NM_001167599.3 NP_001161071.1 sialidase-4 isoform 2
NM_001167600.3 NP_001161072.1 sialidase-4 isoform 3
NM_001167601.3 NP_001161073.1 sialidase-4 isoform 3
NM_001167602.3 NP_001161074.1 sialidase-4 isoform 3
NM_080741.4 NP_542779.2 sialidase-4 isoform 1
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 exo-alpha-sialidase activity IDA
IDA: 通过直接分析推断
14962670 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ganglioside catabolic process IDA
IDA: 通过直接分析推断
15213228 GOA
involved in glycoprotein catabolic process IDA
IDA: 通过直接分析推断
15213228 GOA
involved in oligosaccharide catabolic process IDA
IDA: 通过直接分析推断
15213228 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
15847605 GOA
NOT located in lysosome IDA
IDA: 通过直接分析推断
14962670 GOA
located in lysosome IDA
IDA: 通过直接分析推断
15213228 GOA
located in mitochondrial inner membrane IDA
IDA: 通过直接分析推断
15847605 GOA
located in mitochondrial outer membrane IDA
IDA: 通过直接分析推断
15847605 GOA
located in organelle inner membrane IDA
IDA: 通过直接分析推断
14962670 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

NEU4 蛋白结构

BNR_2

BNR_2: BNR repeat-like domain (36 - 264)

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

sialidase-4

N-acetyl-alpha-neuraminidase 4

NEU4 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
NEU4 Q8WWR8 MDFI Homo sapiens Q99750
Y2H
21516116
种属内
NEU4 Q8WWR8 PLSCR1 Homo sapiens O15162 16189514
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Charcot-Marie-Tooth Disease, Axonal, Type 2v

CMT2V

Charcot-Marie-Tooth Disease Axonal Type 2v

Charcot-Marie-Tooth Neuropathy, Type 2v

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2v

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2v

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2v

Charcot-Marie-Tooth Neuropathy Type 2v

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Naglu Mutation

Hereditary Adult-Onset Painful Axonal Polyneuropathy

Charcot-Marie-Tooth Disease 2v

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

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

Mucolipidosis
Hurler Syndrome

Mucopolysaccharidosis Ih

Mucopolysaccharidosis Type Ih

Mps1-H

MPS1H

Hurler Disease

Mpsih

Mucopolysaccharidosis Type 1h

Alpha-L-Iduronidase Deficiency

Dysostosis Multiplex

Dysostosis Multiplex Syndrome

Gargoylism

Hurler Disease Mps Type 1h

Hurler-Pfaundler Syndrome

L-Iduronidase Deficiency, Hurler Type

Mucopolysaccharidosis Type I Severe Form

Mucopolysaccharidosis 1h

Hurler'S Syndrome

Mps Ih

Mps-Ih

Pfaundler-Hurler Syndrome

Mucopolysaccharidosis I

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

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
Macaca mulatta NEU4 VGNC VGNC:75227
Bos taurus NEU4 VGNC VGNC:50074
Mus musculus NEU4 MGD MGI:2661364
Rattus norvegicus NEU4 RGD RGD:1308624
Felis catus NEU4 VGNC VGNC:63781