NEU4 - neuraminidase 4 Gene

Homo sapiens

Gene ID: 129807 | Gene type: protein coding

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	Reference	Source
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	Reference	Source
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	Reference	Source
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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Related Diseases

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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-125798	2,3-Dehydro-2-deoxy-N-acetylneuraminic acid	Inhibitor	≥99.0%	Unkown
HY-161943	NEU3-IN-1	Inhibitor	/	Unkown
HY-RS09218	NEU4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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