NEU1 - neuraminidase 1 Gene

Also Known as NEU; NANH; SIAL1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4758

About NEU1

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:31,857,659-31,862,821 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele, 205 orthologues, 3 paralogues and is associated with 5 phenotypes. Ubiquitous expression in thyroid (RPKM 39.2), placenta (RPKM 29.4) and 25 other tissues.

Summary

The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and Cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]

NEU1 Products (1)

mRNA	Protein	Name
NM_000434.4	NP_000425.1	sialidase-1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables alpha-sialidase activity	IMP IMP: Inferred from mutant phenotype	25153125	GOA
enables exo-alpha-sialidase activity	IDA IDA: Inferred from direct assay	8985184	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25910212	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in oligosaccharide catabolic process	IMP IMP: Inferred from mutant phenotype	8985184	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in lysosome	IDA IDA: Inferred from direct assay	8985184	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

NEU1 Protein Structure

BNR_2

0
100
200
300
415 a.a.

Protein Preferred Names	Protein Names
sialidase-1	G9 sialidase

NEU1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NEU1	Q99519	HSD17B11	Homo sapiens	Q8NBQ5	Y2H Array	32296183
Intra	NEU1	Q99519	HSD17B11	Homo sapiens	Q8NBQ5	Y2H Prey Pooling	32296183
Intra	NEU1	Q99519	GPX8	Homo sapiens	Q8TED1	Y2H Array	32296183
Intra	NEU1	Q99519	GPX8	Homo sapiens	Q8TED1	Y2H Prey Pooling	32296183
Intra	NEU1	Q99519	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Intra	NEU1	Q99519	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	NEU1	Q99519	GPR152	Homo sapiens	Q8TDT2	Y2H Array	32296183
Intra	NEU1	Q99519	GPR152	Homo sapiens	Q8TDT2	Y2H Prey Pooling	32296183
Intra	NEU1	Q99519	MUC1	Homo sapiens	P15941-11	Y2H Prey Pooling	32296183
Intra	NEU1	Q99519	MUC1	Homo sapiens	P15941-11	Y2H Array	32296183
Intra	NEU1	Q99519	SLC18A1	Homo sapiens	P54219-3	Y2H Array	32296183
Intra	NEU1	Q99519	SLC18A1	Homo sapiens	P54219-3	Y2H Prey Pooling	32296183
Intra	NEU1	Q99519	SLC10A6	Homo sapiens	Q3KNW5	Y2H Prey Pooling	32296183
Intra	NEU1	Q99519	SLC10A6	Homo sapiens	Q3KNW5	Y2H Array	32296183
Intra	NEU1	Q99519	CERS3	Homo sapiens	Q8IU89	Y2H Prey Pooling	32296183
Intra	NEU1	Q99519	CERS3	Homo sapiens	Q8IU89	Y2H Array	32296183
Intra	NEU1	Q99519	CERS4	Homo sapiens	Q9HA82	Validated Y2H	32296183
Intra	NEU1	Q99519	CERS4	Homo sapiens	Q9HA82	Y2H Prey Pooling	32296183
Intra	NEU1	Q99519	CERS4	Homo sapiens	Q9HA82	Y2H Array	32296183
Intra	NEU1	Q99519	SLC39A9	Homo sapiens	Q9NUM3	Y2H Prey Pooling	32296183
Intra	NEU1	Q99519	SLC39A9	Homo sapiens	Q9NUM3	Y2H Array	32296183
Intra	NEU1	Q99519	SLC39A9	Homo sapiens	Q9NUM3	Validated Y2H	32296183
Intra	NEU1	Q99519	EBP	Homo sapiens	Q15125	Y2H Prey Pooling	32296183
Intra	NEU1	Q99519	EBP	Homo sapiens	Q15125	Y2H Array	32296183
Intra	NEU1	Q99519	SLC10A1	Homo sapiens	Q14973	Y2H Array	32296183
Intra	NEU1	Q99519	SLC10A1	Homo sapiens	Q14973	Y2H Prey Pooling	32296183
Intra	NEU1	Q99519	CREB3	Homo sapiens	O43889-2	Y2H Array	25910212
Intra	NEU1	Q99519	CREB3	Homo sapiens	O43889-2	Y2H Bait-Prey Pool	25910212
Intra	NEU1	Q99519	CREB3	Homo sapiens	O43889-2	Validated Y2H	25910212
Intra	NEU1	Q99519	CREB3L1	Homo sapiens	Q96BA8	Y2H Array	32296183
Intra	NEU1	Q99519	CREB3L1	Homo sapiens	Q96BA8	Y2H Prey Pooling	32296183
Intra	NEU1	Q99519	GOLM1	Homo sapiens	Q8NBJ4	Y2H Prey Pooling	32296183
Intra	NEU1	Q99519	GOLM1	Homo sapiens	Q8NBJ4	Y2H Array	32296183
Intra	NEU1	Q99519	MGST3	Homo sapiens	O14880	Y2H Array	32296183
Intra	NEU1	Q99519	MGST3	Homo sapiens	O14880	Y2H Prey Pooling	32296183
Intra	NEU1	Q99519	CD79A	Homo sapiens	P11912	Y2H Prey Pooling	32296183
Intra	NEU1	Q99519	CD79A	Homo sapiens	P11912	Y2H Array	32296183
Intra	NEU1	Q99519	ERGIC3	Homo sapiens	Q9Y282	Y2H Prey Pooling	32296183
Intra	NEU1	Q99519	ERGIC3	Homo sapiens	Q9Y282	Validated Y2H	32296183
Intra	NEU1	Q99519	ERGIC3	Homo sapiens	Q9Y282	Y2H Array	32296183
Intra	NEU1	Q99519	TMEM14B	Homo sapiens	Q9NUH8	Y2H Prey Pooling	32296183
Intra	NEU1	Q99519	TMEM14B	Homo sapiens	Q9NUH8	Validated Y2H	32296183
Intra	NEU1	Q99519	TMEM14B	Homo sapiens	Q9NUH8	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant NEU1 Proteins

Cat. No.	상품명	Accession	Purity
HY-P71310	Sialidase-1 Protein, Human (HEK293, His)	Q99519 (E48-L415)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Neuraminidase Deficiency	Lipomucopolysaccharidosis Sialidase Deficiency Neuraminidase 1 Deficiency Sialidosis Type 1 Sialidosis Type 2 Sialidosis, Type Ii Glycoprotein Neuraminidase Deficiency Neug Deficiency Sialidosis, Type I Mucolipidosis Type 1 SIALIDOSIS Mucolipidosis I Ml I Neu Deficiency Neu1 Deficiency Sialidosis Type I Cherry Red Spot Myoclonus Syndrome Myoclonus Cherry Red Spot Syndrome Ml1 Neu 1 Deficiency Cherry-Red Spot-Myoclonus Syndrome Normomorphic Sialidosis Infantile Dysmorphic Sialidosis Neu Type I Mucolipidosis
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
Juvenile Sialidosis Type 2
Congenital Sialidosis Type 2
Hydrops Fetalis, Nonimmune	Hydrops Fetalis Non-Immune Hydrops Fetalis NIHF Familial Non-Immune Hydrops Fetalis Hydrops Fetalis Nonimmune Idiopathic Hydrops Fetalis Hb Bart'S Hydrops Fetalis Alpha-Thalassemia Hydrops Fetalis Alpha-Thalassemia Major Hemoglobin Bart'S Hydrops Fetalis Homozygous Alpha0-Thalassemia Fetal Anasarca Fetal Hydrops Generalized Fetal Edema Hf Non-Immune Hf Non-Immune Fetal Edema Non-Immune Fetal Hydrops Hydrops Fetalis, Non-Immune Hemoglobin Bart'S Hydrops Syndrome
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
Swine Influenza	Influenza Due To Influenza A Virus Subtype H1n1
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
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
Myoclonus
Gm2 Gangliosidosis	Gangliosidosis Gm2 Gangliosidoses, Gm2
Sialuria	Sialuria, French Type French Type Sialuria Sialuria French Type Sialic Acid Storage Disease Sialic Acid Storage Disease, Finnish Type Infantile Sialic Acid Storage Disease
Mucolipidosis
Newcastle Disease	Newcastle'S Disease Pseudo-Fowlpest
Atrophic Rhinitis	Rhinitis, Atrophic Ozena Rhinitis Sicca Dry Rhinitis Ozaena
Gangliosidosis	Gangliosidoses
Mucopolysaccharidosis Iv	Morquio Syndrome Mucopolysaccharidosis Type 4 Mucopolysaccharidosis Type Iv Morquio Disease Galactosamine-6-Sulfatase Deficiency Mps4 Mpsiv Morquio-Brailsford Disease Chondroosteodystrophy Deficiency Of Chondroitinsulphatase Deficiency Of N-Acetylgalactosamine-6-Sulphatase Mucopolysaccharidosis, Mps-Iv Osteochondrodystrophy Morquio'S Disease Morquio'S Syndrome Mps Iv Mucopolysaccharidosis Iv Morquios Syndrome Mucopolysaccharidosis, Mps-Iv-A Mucopolysaccharidosis Type Ivb Galns Deficiency
Influenza	Flu Influenza With Non-Respiratory Manifestation Influenza With Other Manifestations Influenza, Human Influenza, Susceptibility To Seasonal Influenza, Virus Identified
Cholera	Vibrio Cholerae Infection Cholera - Vibrio Cholerae Cholera Due To Vibrio Cholerae Vibrio Cholerae Cholera Syndrome Asiatic Cholera Epidemic Cholera
Pneumonia	Acute Pneumonia Pneumonias Infectious Pneumonia Pn - [Pneumonia] Lobar Pneumonia Nos Multifocal Pneumonia Orthostatic Pneumonia Pneumonia Nos Chronic Pneumonia Nos Atypical Pneumonia Passive Pneumonia Purulent Pneumonia Interstitial Lobar Pneumonia Pneumonia, Unspecified Pneumonia Due To Chlamydia Pneumonia Due To Chlamydia Pneumoniae Pneumonia Due To E. Coli Escherichia Coli Lobar Pneumonia Pneumonia Due To H. Influenzae Pneumonia Due To Hemophilus Influenzae Bronchopneumonia Due To H. Influenzae Haemophilus Influenzae Lobar Pneumonia Bronchopneumonia Due To Hemophilus Influenzae Pseudomonal Pneumonia Pseudomonas Pneumonia Pseudomonas Lobar Pneumonia Staphylococcal Pneumonia Staphylococcus Pneumonia Acute Staphylococcal Pneumonia Staphylococcal Double Pneumonia Staphylococcal Lobar Pneumonia Staphylococcal Purulent Pneumonia Staphylococcal Bronchopneumonia Pneumococcal Pneumonia Pneumococcus Pneumonia Bronchopneumonia Due To S. Pneumoniae Pneumococcal Lobar Pneumonia Streptococcal Pneumoniae Pneumonia Streptococcus Pneumoniae Lobar Pneumonia Pyemic Pneumococcal Embolism With Pneumonia Bronchopneumonia Due To Streptococcus Pneumoniae Pneumonia Due To Streptococcus, Group B Group B Streptococcal Pneumonia Adenovirus Pneumonia Adenoviral Pneumonia Adenovirus Viral Pneumonia Pneumonia Respiratory Syncytial Viral Parainfluenza Viral Pneumonia Parainfluenzal Pneumonia Parainfluenza Virus Pneumonia Human Metapneumovirus Pneumonia Human Metapneumovirus Infection Resulting In Pneumonia Pneumocystis Pneumonia Plasma Cells Pneumonia
Pasteurellosis	Pasteurella Infection Pasteurella Infections Pasteurella Infectious Disease Shipping Fever Transport Fever
Mucolipidosis Ii Alpha/Beta	I-Cell Disease Mucolipidosis Type Ii Mucolipidosis Ii Icd Inclusion Cell Disease Inclusion-Cell Disease I Cell Disease Mucolipidosis 2 MLII Ml Ii Ml Ii Alpha/Beta Gnpta Leroy Disease Ml 2 Ml Disorder Type 2 N-Acetylglucosamine 1phosphotransferase Deficiency Mucolipidosis Type Ii Alpha/Beta N-Acetylglucosamine 1-Phosphotransferase Deficiency Deficiency Of N-Acetylglucosamine-1-Phosphotransferase Mucolipidosis, Type Ii, Alpha/Beta Ml2 Type Ii 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
Gas Gangrene	Myonecrosis Gas Bacillus Infection Gas Gangrene Due To Clostridia Clostridial Myonecrosis Clostridial Cellulitis
Congenital Disorder Of Glycosylation, Type Ia	CDG1A Cdg Ia Phosphomannomutase 2 Deficiency Jaeken Syndrome Pmm2-Congenital Disorder Of Glycosylation Congenital Disorder Of Glycosylation Type Ia Cdgia Congenital Disorder Of Glycosylation Ia Congenital Disorder Of Glycosylation 1a Carbohydrate-Deficient Glycoprotein Syndrome Type Ia Cdgs1a Pmm2-Cdg Cdg-Ia Congenital Disorder Of Glycosylation Type 1a Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, Formerly Pmm Deficiency Cdg Syndrome Type Ia Carbohydrate Deficient Glycoprotein Syndrome Type Ia Cdg Syndrome Type 1a Jaeken'S Syndrome Pmm2 Deficiency Glycosylation, Congenital Disorder Of, Type Ia
Progressive Familial Heart Block, Type Ii	PFHB2 Pfhbii Progressive Familial Heart Block Type Ii Progressive Familial Heart Block Type 2 Heart Block Progressive Familial Type 2
Tetanus	Lockjaw Clostridial Tetanus Infection Due To Clostridium Tetani Lock-Jaw
Viral Infectious Disease	Viral Disease Arbovirus Infections Virus Infection Virus Diseases Viral Infection Viral Infections Virus Infections
Bernard-Soulier Syndrome	Giant Platelet Syndrome BSS Von Willebrand Factor Receptor Deficiency Bdplt1 Platelet Glycoprotein Ib Deficiency Bernard-Soulier Syndrome, Type A1 Bernard-Soulier Syndrome, Type B Bernard Soulier Syndrome Deficiency Of Platelet Glycoprotein 1b Hemorrhagiparous Thrombocytic Dystrophy Bernard-Soulier Syndrome Type C Bleeding Disorder, Platelet-Type, 1 Glycoprotein Ib, Platelet, Deficiency Of Giant Platelet Disorder, Isolated Giant Platelet Disease Macrothrombocytopenia, Familial Bernard-Soulier Type Bernard-Soulier Syndrome, Type C Bernard - Soulier Thrombopathy Hemorrhagic Dystrophic Thrombocytopenia Thrombopathy, Bernard-Soulier Platelet Glycoprotein 1b, Deficiency Of Hemorrhagioparous Thrombocytic Dystrophy Bernard-Soulier Syndrome Type A1 Bernard-Soulier Syndrome Type B Bleeding Disorder Platelet-Type 1 Gpd Macrothrombocytopenia, Familial, Bernard-Soulier Type
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
Angiokeratoma	Angiokeratoma Of Skin Cutaneous Angiokeratoma Skin Angiokeratoma
Balanoposthitis	Balanitis Due To Infection
Skin Hemangioma	Angioma Of The Skin Angiomatous Naevus Of Skin Hemangioma Of Skin
Mucopolysaccharidosis-Plus Syndrome	Mucopolysaccharidosis Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders MPSPS Mucopolysaccharidoses Mps Mucopolysaccharidosis-Like Plus Disease Disorders Of Glycosaminoglycan Metabolism
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
Respiratory Failure	Acute Respiratory Failure Chronic Respiratory Failure Respiratory Insufficiency Acute-On-Chronic Respiratory Failure Respiratory Disease Acute And Chronic Respiratory Failure Respiratory Insufficiency/Failure Chronic Respiratory Disease Pulmonary Valve Insufficiency Chronic Disease Of Respiratory System Respiration Disorders Respiratory Tract Diseases Lung Failure Nos Pulmonary Failure Arf - [Acute Respiratory Failure] Acute Respiratory Insufficiency Acute Pulmonary Insufficiency Acute Respiration Failure Chronic Respiration Failure
Respiratory Syncytial Virus Infectious Disease	Respiratory Syncytial Virus Infections Respiratory Syncytial Virus Infection
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Barakat Syndrome Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Hdr Syndrome Nephrosis, Nerve Deafness, And Hypoparathyroidism Hypoparathyroidism, Sensorineural Deafness, And Renal Disease HDR HDRS Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome Hypoparathyroidism-Sensorineural Hearing Loss-Renal Disease Syndrome Nephrosis Nephrotic Syndrome
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos

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 (9)

Cat. No.	상품명	효과	Purity	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-169155	OsMo		/	Unkown
HY-RS04206	EGFL7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS09215	NEU1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS09219	NEURL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-183400	BIM-46174		/	Unkown
HY-RS18959	Neu1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25449	Neu1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	NEU1	MGD	MGI:97305
Felis catus	NEU1	VGNC	VGNC:68462
Bos taurus	NEU1	VGNC	VGNC:50230
Macaca mulatta	NEU1	VGNC	VGNC:75316
Canis familiaris	NEU1	VGNC	VGNC:54975
Rattus norvegicus	NEU1	RGD	RGD:3163
Others	NEU1	NCBI