NEU4 - neuraminidase 4 Gene

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 129807

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence 参考文献 由来
enables exo-alpha-sialidase activity IDA
IDA: Inferred from direct assay
14962670 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in ganglioside catabolic process IDA
IDA: Inferred from direct assay
15213228 GOA
involved in glycoprotein catabolic process IDA
IDA: Inferred from direct assay
15213228 GOA
involved in oligosaccharide catabolic process IDA
IDA: Inferred from direct assay
15213228 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
15847605 GOA
NOT located in lysosome IDA
IDA: Inferred from direct assay
14962670 GOA
located in lysosome IDA
IDA: Inferred from direct assay
15213228 GOA
located in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
15847605 GOA
located in mitochondrial outer membrane IDA
IDA: Inferred from direct assay
15847605 GOA
located in organelle inner membrane IDA
IDA: Inferred from direct assay
14962670 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

NEU4 Protein Structure

BNR_2

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

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

sialidase-4

  • N-acetyl-alpha-neuraminidase 4

NEU4 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
NEU4 Q8WWR8 MDFI Homo sapiens Q99750
Y2H
21516116
Intra
NEU4 Q8WWR8 PLSCR1 Homo sapiens O15162
Pull Down
16189514
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
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
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-125798 2,3-Dehydro-2-deoxy-N-acetylneuraminic acid Inhibitor ≥99.0% Unkown
HY-161943 NEU3-IN-1 98.74% Unkown
HY-RS09218 NEU4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others NEU4 NCBI