Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4758
Gene name	Neuraminidase 1
Gene symbol	NEU1
Synonyms (NCBI Gene)	NANHNEUSIAL1
Chromosome	6
Chromosome location	6p21.33
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

Show/Hide all (20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28940583	C>T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104893971	C>A	Pathogenic	Coding sequence variant, stop gained
rs104893972	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs104893977	A>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs104893978	A>G	Pathogenic	Coding sequence variant, missense variant
rs104893979	G>A	Pathogenic	Coding sequence variant, missense variant
rs104893980	C>A,G,T	Pathogenic	Coding sequence variant, missense variant
rs104893981	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs104893983	C>T	Pathogenic	Coding sequence variant, missense variant
rs104893984	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs104893985	G>A	Pathogenic	Coding sequence variant, missense variant
rs193922915	A>G	Pathogenic	Coding sequence variant, missense variant
rs398123392	T>C,G	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs746607723	G>A,C,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs754405067	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs769765227	C>T	Pathogenic	Coding sequence variant, missense variant
rs864309513	T>C,G	Pathogenic	Splice acceptor variant
rs886042881	AGACA>TTTGGC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1486980139	C>G,T	Pathogenic	Splice donor variant
rs1581820081	C>-	Pathogenic	Coding sequence variant, frameshift variant

170

Show/Hide all (170)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020584	hsa-miR-155-5p	Proteomics	18668040
MIRT1180937	hsa-miR-139-5p	CLIP-seq
MIRT1180938	hsa-miR-3140-5p	CLIP-seq
MIRT1180939	hsa-miR-323-5p	CLIP-seq
MIRT1180940	hsa-miR-34a	CLIP-seq
MIRT1180941	hsa-miR-34c-5p	CLIP-seq
MIRT1180942	hsa-miR-3616-3p	CLIP-seq
MIRT1180943	hsa-miR-3684	CLIP-seq
MIRT1180944	hsa-miR-3688-5p	CLIP-seq
MIRT1180945	hsa-miR-3714	CLIP-seq
MIRT1180946	hsa-miR-4436b-3p	CLIP-seq
MIRT1180947	hsa-miR-4449	CLIP-seq
MIRT1180948	hsa-miR-4493	CLIP-seq
MIRT1180949	hsa-miR-449a	CLIP-seq
MIRT1180950	hsa-miR-449b	CLIP-seq
MIRT1180951	hsa-miR-4532	CLIP-seq
MIRT1180952	hsa-miR-4700-3p	CLIP-seq
MIRT1180953	hsa-miR-4704-3p	CLIP-seq
MIRT1180954	hsa-miR-4728-5p	CLIP-seq
MIRT1180955	hsa-miR-876-3p	CLIP-seq
MIRT2052307	hsa-miR-125a-5p	CLIP-seq
MIRT2052308	hsa-miR-125b	CLIP-seq
MIRT2052309	hsa-miR-2355-5p	CLIP-seq
MIRT2052310	hsa-miR-23a	CLIP-seq
MIRT2052311	hsa-miR-23b	CLIP-seq
MIRT2052312	hsa-miR-23c	CLIP-seq
MIRT2052313	hsa-miR-24	CLIP-seq
MIRT2052314	hsa-miR-2467-5p	CLIP-seq
MIRT2052315	hsa-miR-3591-3p	CLIP-seq
MIRT2052316	hsa-miR-3614-3p	CLIP-seq
MIRT2052317	hsa-miR-4297	CLIP-seq
MIRT2052318	hsa-miR-4319	CLIP-seq
MIRT2052319	hsa-miR-4682	CLIP-seq
MIRT2052320	hsa-miR-4695-5p	CLIP-seq
MIRT2052321	hsa-miR-4732-3p	CLIP-seq
MIRT2052322	hsa-miR-583	CLIP-seq
MIRT2052323	hsa-miR-670	CLIP-seq
MIRT2281723	hsa-miR-1226	CLIP-seq
MIRT2281724	hsa-miR-1245b-3p	CLIP-seq
MIRT2052307	hsa-miR-125a-5p	CLIP-seq
MIRT2052308	hsa-miR-125b	CLIP-seq
MIRT2281725	hsa-miR-1286	CLIP-seq
MIRT2281726	hsa-miR-129-5p	CLIP-seq
MIRT2281727	hsa-miR-144	CLIP-seq
MIRT2281728	hsa-miR-146b-3p	CLIP-seq
MIRT2281729	hsa-miR-197	CLIP-seq
MIRT2281730	hsa-miR-2113	CLIP-seq
MIRT2052309	hsa-miR-2355-5p	CLIP-seq
MIRT2052310	hsa-miR-23a	CLIP-seq
MIRT2052311	hsa-miR-23b	CLIP-seq
MIRT2052312	hsa-miR-23c	CLIP-seq
MIRT2052313	hsa-miR-24	CLIP-seq
MIRT2052314	hsa-miR-2467-5p	CLIP-seq
MIRT2281731	hsa-miR-339-5p	CLIP-seq
MIRT2052316	hsa-miR-3614-3p	CLIP-seq
MIRT1180942	hsa-miR-3616-3p	CLIP-seq
MIRT2281732	hsa-miR-4265	CLIP-seq
MIRT2281733	hsa-miR-4296	CLIP-seq
MIRT2052317	hsa-miR-4297	CLIP-seq
MIRT2052318	hsa-miR-4319	CLIP-seq
MIRT2281734	hsa-miR-4322	CLIP-seq
MIRT2281735	hsa-miR-4330	CLIP-seq
MIRT1180946	hsa-miR-4436b-3p	CLIP-seq
MIRT2281736	hsa-miR-4648	CLIP-seq
MIRT2281737	hsa-miR-4654	CLIP-seq
MIRT2052319	hsa-miR-4682	CLIP-seq
MIRT2052320	hsa-miR-4695-5p	CLIP-seq
MIRT2281738	hsa-miR-4721	CLIP-seq
MIRT2052321	hsa-miR-4732-3p	CLIP-seq
MIRT2281739	hsa-miR-4733-3p	CLIP-seq
MIRT2281740	hsa-miR-4769-5p	CLIP-seq
MIRT2281741	hsa-miR-5096	CLIP-seq
MIRT2281742	hsa-miR-630	CLIP-seq
MIRT2052323	hsa-miR-670	CLIP-seq
MIRT2281723	hsa-miR-1226	CLIP-seq
MIRT2052307	hsa-miR-125a-5p	CLIP-seq
MIRT2052308	hsa-miR-125b	CLIP-seq
MIRT2281728	hsa-miR-146b-3p	CLIP-seq
MIRT2281729	hsa-miR-197	CLIP-seq
MIRT2052309	hsa-miR-2355-5p	CLIP-seq
MIRT2052310	hsa-miR-23a	CLIP-seq
MIRT2052311	hsa-miR-23b	CLIP-seq
MIRT2052312	hsa-miR-23c	CLIP-seq
MIRT2052313	hsa-miR-24	CLIP-seq
MIRT2052314	hsa-miR-2467-5p	CLIP-seq
MIRT2281731	hsa-miR-339-5p	CLIP-seq
MIRT2052315	hsa-miR-3591-3p	CLIP-seq
MIRT2052316	hsa-miR-3614-3p	CLIP-seq
MIRT2052317	hsa-miR-4297	CLIP-seq
MIRT2052318	hsa-miR-4319	CLIP-seq
MIRT2052319	hsa-miR-4682	CLIP-seq
MIRT2052320	hsa-miR-4695-5p	CLIP-seq
MIRT2052321	hsa-miR-4732-3p	CLIP-seq
MIRT2281739	hsa-miR-4733-3p	CLIP-seq
MIRT2281741	hsa-miR-5096	CLIP-seq
MIRT2052322	hsa-miR-583	CLIP-seq
MIRT2052323	hsa-miR-670	CLIP-seq
MIRT1180942	hsa-miR-3616-3p	CLIP-seq
MIRT1180946	hsa-miR-4436b-3p	CLIP-seq
MIRT1180947	hsa-miR-4449	CLIP-seq
MIRT1180951	hsa-miR-4532	CLIP-seq
MIRT1180954	hsa-miR-4728-5p	CLIP-seq
MIRT2281723	hsa-miR-1226	CLIP-seq
MIRT2052307	hsa-miR-125a-5p	CLIP-seq
MIRT2052308	hsa-miR-125b	CLIP-seq
MIRT2579911	hsa-miR-1283	CLIP-seq
MIRT1180937	hsa-miR-139-5p	CLIP-seq
MIRT2281728	hsa-miR-146b-3p	CLIP-seq
MIRT2281729	hsa-miR-197	CLIP-seq
MIRT2579912	hsa-miR-205	CLIP-seq
MIRT2052309	hsa-miR-2355-5p	CLIP-seq
MIRT2052310	hsa-miR-23a	CLIP-seq
MIRT2052311	hsa-miR-23b	CLIP-seq
MIRT2052312	hsa-miR-23c	CLIP-seq
MIRT2052313	hsa-miR-24	CLIP-seq
MIRT2052314	hsa-miR-2467-5p	CLIP-seq
MIRT2281731	hsa-miR-339-5p	CLIP-seq
MIRT2579913	hsa-miR-33a	CLIP-seq
MIRT2579914	hsa-miR-33b	CLIP-seq
MIRT2052315	hsa-miR-3591-3p	CLIP-seq
MIRT2052316	hsa-miR-3614-3p	CLIP-seq
MIRT1180942	hsa-miR-3616-3p	CLIP-seq
MIRT2579915	hsa-miR-362-5p	CLIP-seq
MIRT1180943	hsa-miR-3684	CLIP-seq
MIRT2579916	hsa-miR-3976	CLIP-seq
MIRT2052317	hsa-miR-4297	CLIP-seq
MIRT2052318	hsa-miR-4319	CLIP-seq
MIRT1180946	hsa-miR-4436b-3p	CLIP-seq
MIRT1180947	hsa-miR-4449	CLIP-seq
MIRT2579917	hsa-miR-4528	CLIP-seq
MIRT1180951	hsa-miR-4532	CLIP-seq
MIRT2052319	hsa-miR-4682	CLIP-seq
MIRT2052320	hsa-miR-4695-5p	CLIP-seq
MIRT1180952	hsa-miR-4700-3p	CLIP-seq
MIRT1180954	hsa-miR-4728-5p	CLIP-seq
MIRT2052321	hsa-miR-4732-3p	CLIP-seq
MIRT2281739	hsa-miR-4733-3p	CLIP-seq
MIRT2579918	hsa-miR-500b	CLIP-seq
MIRT2579919	hsa-miR-501-5p	CLIP-seq
MIRT2281741	hsa-miR-5096	CLIP-seq
MIRT2579920	hsa-miR-576-3p	CLIP-seq
MIRT2052322	hsa-miR-583	CLIP-seq
MIRT2579921	hsa-miR-664	CLIP-seq
MIRT2052323	hsa-miR-670	CLIP-seq
MIRT2281723	hsa-miR-1226	CLIP-seq
MIRT2052307	hsa-miR-125a-5p	CLIP-seq
MIRT2052308	hsa-miR-125b	CLIP-seq
MIRT1180937	hsa-miR-139-5p	CLIP-seq
MIRT2281728	hsa-miR-146b-3p	CLIP-seq
MIRT2281729	hsa-miR-197	CLIP-seq
MIRT2052309	hsa-miR-2355-5p	CLIP-seq
MIRT2052310	hsa-miR-23a	CLIP-seq
MIRT2052311	hsa-miR-23b	CLIP-seq
MIRT2052312	hsa-miR-23c	CLIP-seq
MIRT2052313	hsa-miR-24	CLIP-seq
MIRT2052314	hsa-miR-2467-5p	CLIP-seq
MIRT2281731	hsa-miR-339-5p	CLIP-seq
MIRT2052315	hsa-miR-3591-3p	CLIP-seq
MIRT2052316	hsa-miR-3614-3p	CLIP-seq
MIRT1180943	hsa-miR-3684	CLIP-seq
MIRT2052317	hsa-miR-4297	CLIP-seq
MIRT2052318	hsa-miR-4319	CLIP-seq
MIRT2052319	hsa-miR-4682	CLIP-seq
MIRT2052320	hsa-miR-4695-5p	CLIP-seq
MIRT1180952	hsa-miR-4700-3p	CLIP-seq
MIRT2052321	hsa-miR-4732-3p	CLIP-seq
MIRT2281739	hsa-miR-4733-3p	CLIP-seq
MIRT2281741	hsa-miR-5096	CLIP-seq
MIRT2052322	hsa-miR-583	CLIP-seq
MIRT2052323	hsa-miR-670	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004308	Function	Exo-alpha-sialidase activity	IBA
GO:0004308	Function	Exo-alpha-sialidase activity	IDA	8985184
GO:0004308	Function	Exo-alpha-sialidase activity	IEA
GO:0004308	Function	Exo-alpha-sialidase activity	TAS
GO:0005515	Function	Protein binding	IPI	25910212, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IDA	8985184, 25153125
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006689	Process	Ganglioside catabolic process	IBA
GO:0009313	Process	Oligosaccharide catabolic process	IBA
GO:0009313	Process	Oligosaccharide catabolic process	IMP	8985184
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0016997	Function	Alpha-sialidase activity	IMP	25153125
GO:0030054	Component	Cell junction	IDA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035580	Component	Specific granule lumen	TAS
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0070062	Component	Extracellular exosome	HDA	19199708, 23533145

MIM	HGNC	e!Ensembl
608272	7758	ENSG00000204386

Q99519

Protein name

Sialidase-1 (EC 3.2.1.18) (Acetylneuraminyl hydrolase) (G9 sialidase) (Lysosomal sialidase) (N-acetyl-alpha-neuraminidase 1)

Protein function

Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moieties from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13088	BNR_2	88 → 382	BNR repeat-like domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in pancreas, followed by skeletal muscle, kidney, placenta, heart, lung and liver. Weakly expressed in brain. {ECO:0000269|PubMed:8985184, ECO:0000269|PubMed:9054950}.

Sequence

MTGERPSTALPDRRWGPRILGFWGGCRVWVFAAIFLLLSLAASWSKAENDFGLVQPLVTM
EQLLWVSGRQIGSVDTFRIPLITATPRGTLLAFAEARKMSSSDEGAKFIALRRSMDQGST
WSPTAFIVNDGDVPDGLNLGAVVSDVETGVVFLFYSLCAHKAGCQVASTMLVWSKDDGVS
WSTPRNLSLDIGTEVFAPGPGSGIQKQREPRKGRLIVCGHGTLERDGVFCLLSDDHGASW
RYGSGVSGIPYGQPKQENDFNPDECQPYELPDGSVVINARNQNNYHCHCRIVLRSYDACD
TLRPRDVTFDPELVDPVVAAGAVVTSSGIVFFSNPAHPEFRVNLTLRWSFSNGTSWRKET
VQLWPGPSGYSSLATLEGSMDGEEQAPQLYVLYEKGRNHYTESISVAKISVYGTL

Sequence length

415

Interactions

View interactions

	KEGG		Reactome
	Other glycan degradation Sphingolipid metabolism Metabolic pathways Lysosome		Glycosphingolipid metabolism Sialic acid metabolism Defective NEU1 causes sialidosis Neutrophil degranulation

110

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
NEU1-related disorder	Likely pathogenic; Pathogenic	rs28940583, rs104893986	RCV004757093 RCV003964788
Non-immune hydrops fetalis	Pathogenic	rs746607723, rs864309513	RCV000202594 RCV000202579
Sialidosis	Pathogenic; Likely pathogenic	rs534846786, rs28940583, rs104893981, rs768958770, rs749996046, rs751458617, rs769765227, rs398123392, rs754405067, rs768711214, rs945372017, rs762400331, rs1762547799	RCV001806793 RCV002281689 RCV003323347 RCV002469977 RCV003155631 RCV003493356 RCV000587143 RCV000781657 RCV000503401 RCV002234170 RCV001175541 RCV003317457 RCV005408754 RCV001293567
Sialidosis type 1	Pathogenic; Likely pathogenic	rs104893971, rs28940583, rs104893983, rs104893979	RCV000002547 RCV000002553 RCV000002554 RCV000002558
Sialidosis type 2	Likely pathogenic; Pathogenic	rs2151544098, rs2151544199, rs104893972, rs1301852124, rs104893977, rs193922915, rs1581820081, rs104893984, rs104893985, rs104893978, rs1486980139, rs104893980, rs104893981, rs104893986, rs746607723 View all (6 more)	RCV001782518 RCV001806380 RCV000002548 RCV000002549 RCV000002550 RCV000002551 RCV000002552 RCV000002555 RCV000002556 RCV000002557 RCV000002559 RCV000002560 RCV000002561 RCV000002562 RCV000202594 RCV000202579 RCV004690421 RCV001805111 RCV005869518 RCV001293240 RCV002499537

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1562433238, rs1216473974	-
Clear cell carcinoma of kidney	Likely benign	rs557409640	RCV005928770

Show/Hide Text Mining Associations (60)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abortion Spontaneous	Inhibit	34135905
Anodontia	Associate	26497328
Breast Neoplasms	Stimulate	19893046
Breast Neoplasms	Associate	2428391, 31311202
Bronchitis	Associate	29433792
Carcinogenesis	Associate	28814832
Carcinoma Hepatocellular	Associate	22219594, 27602751
Carcinoma Pancreatic Ductal	Associate	25184537
Colorectal Neoplasms	Associate	12149448, 29547645
COVID 19	Associate	25639813, 34020222, 35294004
Critical Illness	Associate	20587176
Disease	Associate	23860768
Drug Hypersensitivity	Associate	25633562
Drug Resistant Epilepsy	Associate	23437217
Epileptic Encephalopathy Early Infantile 3	Associate	33798445
Esophageal Squamous Cell Carcinoma	Associate	38460365
Glioblastoma	Associate	37511403
Heart defects limb shortening	Associate	12067718
Hemochromatosis	Associate	12067718
Hemolytic Uremic Syndrome	Associate	22591179
HTLV I Infections	Associate	11781317
Immunologic Deficiency Syndromes	Associate	9435242
Infections	Associate	20975994, 21284922, 21343149, 21801626, 22243670, 23860768, 25001578, 27714496, 34388979, 34696326, 35294004, 36991360
Influenza Human	Associate	10655394, 12970442, 19133796, 19309695, 19321726, 19745803, 19857993, 20003906, 20587176, 20668122, 21122225, 21148493, 21799795, 22243670, 23437217 View all (32 more)
Kidney Diseases	Associate	24088848
Leukemia Lymphocytic Chronic B Cell	Associate	1721040, 3485460
Long QT Syndrome	Associate	26497387
Lung Neoplasms	Associate	10898120
Lupus Erythematosus Systemic	Associate	31137925, 31509989
Lupus Nephritis	Associate	34872988
Lymphoma Large Cell Anaplastic	Associate	25573487
Melanoma	Inhibit	25447529
Metabolic Diseases	Associate	8985184
Microphthalmia Syndromic 10	Associate	23291686
Mucolipidoses	Associate	11470272, 12067718, 16314420, 16538002, 23291686, 29414417, 29455223, 32453490, 32485644, 32867703, 34992946, 39298726, 39350194, 8985184
Mucolipidoses	Inhibit	32867703, 33516873, 33922276
Mumps	Associate	30190529
Myocarditis	Associate	38262078
Myositis	Associate	34872988
Myotonia Congenita	Associate	30177469
Neoplasms	Associate	10428197, 2039710, 25184537, 29278877, 32631440, 33116404
Neoplasms	Inhibit	37511403
Nervous System Malformations	Associate	33922276
Neuraminidase 1 deficiency	Associate	11470272, 16538002, 23291686, 29455223, 32485644, 39298726
Neuraminidase deficiency with beta galactosidase deficiency	Associate	16314420, 1694176
Neuraminidase deficiency with beta galactosidase deficiency	Inhibit	1756715, 8985184
Ototoxicity	Associate	21470465
Ovarian Neoplasms	Stimulate	29278877
Pancreatic Neoplasms	Associate	33116404
Papilledema	Associate	32867703
Pneumonia	Associate	25033052
Primary visual agnosia	Associate	32867703
Respiration Disorders	Associate	25033052
Seasonal Affective Disorder	Associate	25241691
Signs and Symptoms Respiratory	Associate	32631440
Tay Sachs Disease	Associate	4639018
Thrombosis	Stimulate	27602751
Triple Negative Breast Neoplasms	Associate	26191126
Tuberculosis Multidrug Resistant	Associate	21801626
Virus Diseases	Associate	11781317, 23125526, 23965618, 25001578, 36361900

NEU1 (neuraminidase 1)