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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
NEU1-related disorder	Likely pathogenic; Pathogenic	rs28940583, rs104893986	RCV004757093 RCV003964788	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-immune hydrops fetalis	Pathogenic	rs746607723, rs864309513	RCV000202594 RCV000202579	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sialidosis	Pathogenic; Likely pathogenic	rs534846786, rs28940583, rs104893981, rs768958770, rs749996046, rs751458617, rs769765227, rs398123392, rs754405067, rs768711214, rs945372017, rs762400331, rs1762547799	RCV001806793 RCV002281689 RCV003323347 RCV002469977 RCV003155631 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sialidosis type 1	Pathogenic; Likely pathogenic	rs104893971, rs28940583, rs104893983, rs104893979	RCV000002547 RCV000002553 RCV000002554 RCV000002558	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (16 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BASAL CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL SIALIDOSIS TYPE 2	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOLIPIDOSES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE I MUCOLIPIDOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

NEU1 (neuraminidase 1)