1. Gene
  2. NEU1 - neuraminidase 1 Gene

NEU1 - neuraminidase 1 Gene

Homo sapiens

Also known as NEU; NANH; SIAL1

Gene ID: 4758 | Gene type: protein coding

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

NEU1 Protein Structure

BNR_2

BNR_2: BNR repeat-like domain (88 - 377)

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  • 415 a.a.
Protein Preferred Names Protein Names

sialidase-1

G9 sialidase

Recombinant NEU1 Proteins

Cat. No. Product Name Accession Purity
HY-P71310 Sialidase-1 Protein, Human (HEK293, His) Q99519 (E48-L415) ≥95%

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

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