NEU1

GENE INFORMATION

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Gene name

NEU1 (HGNC Symbol)

Synonyms

NEU

Description

sialidase 1 (lysosomal sialidase) (HGNC Symbol)

Entrez gene 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]

Chromosome

6 (Chromosome progress)

Cytoband

p21.33

Chromosome location (bp)

31825436 - 31830683

Ensembl

ENSG00000204386 (version 73.37)

Entrez gene

4758

UniProt

Q99519 (UniProt - Evidence at protein level)

neXtProt

NX_Q99519

Antibodypedia

NEU1 antibodies
 

PROTEIN VIEW

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NEU1-001
 
NEU1-002
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NEU1-001 ENSP00000364782
ENST00000375631
Q99519
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Show » Show » 415 45.5 No 0
NEU1-002 ENSP00000433127
ENST00000491768
E9PIF4
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Show » Show » 267 29 No 0