AlphaFold predicted structure
NEU1 · Q99519
Mean pLDDT
89.1/ 100
Confident
415 residues
Confidence breakdown
- Very high(≥ 90)81%
- Confident(70–90)6%
- Low(50–70)3%
- Very low(< 50)11%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
NEU1
Chr 6p21.33neuraminidase 1
- MANE:
- ENST00000375631.5
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalFetal hydrops
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalLysosomal storage disorder
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
sialidosis
0.81sialidosis type 2
0.78sialidosis type II
0.78sialidosis type I
0.73sialidosis type 1
0.57neurodegenerative disease
0.50Alzheimer disease
0.49Parkinson disease
0.47lysosomal storage disease
0.47cerebellar ataxia
0.46
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Sialidase-1
Lysosomal exo-alpha-sialidase that 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 (PubMed:14695530, PubMed:25153125, PubMed:37205763, PubMed:8985184, PubMed:9054950). Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage
Diseases associated with NEU1
Curated MONDO disease pages that list NEU1 among their top associated genes.