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NEU1

GENERAL INFORMATION

Gene name

 NEU1

Gene description

 Sialidase 1 (lysosomal sialidase)

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Approved based on 2 antibodies.
HPA015634 , HPA021506
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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

Cytoband

 p21.33

Chromosome location (bp)

 31857659 - 31862906

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000204386 (version 83.38)

Entrez gene

 4758

UniProt

 Q99519 (UniProt - Evidence at protein level)

neXtProt

 NX_Q99519

Antibodypedia

 NEU1 antibodies

PROTEIN BROWSER
NEU1-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
NEU1-001
ENSP00000364782
ENST00000375631
Q99519 [Direct mapping]
Sialidase-1
Q5JQI0 [Target identity:100%; Query identity:100%]
NEU1 protein; Sialidase 1 (Lysosomal sialidase), isoform CRA_a; cDNA, FLJ93471, Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA
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Enzymes
   ENZYME proteins
   Hydrolases
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004308 [exo-alpha-sialidase activity]
GO:0005515 [protein binding]
GO:0005764 [lysosome]
GO:0005765 [lysosomal membrane]
GO:0005886 [plasma membrane]
GO:0006488 [dolichol-linked oligosaccharide biosynthetic process]
GO:0006665 [sphingolipid metabolic process]
GO:0006687 [glycosphingolipid metabolic process]
GO:0006689 [ganglioside catabolic process]
GO:0009313 [oligosaccharide catabolic process]
GO:0009986 [cell surface]
GO:0010976 [positive regulation of neuron projection development]
GO:0016020 [membrane]
GO:0016023 [cytoplasmic membrane-bounded vesicle]
GO:0018279 [protein N-linked glycosylation via asparagine]
GO:0030054 [cell junction]
GO:0043202 [lysosomal lumen]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043687 [post-translational protein modification]
GO:0044267 [cellular protein metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0052794 [exo-alpha-(2->3)-sialidase activity]
GO:0052795 [exo-alpha-(2->6)-sialidase activity]
GO:0052796 [exo-alpha-(2->8)-sialidase activity]
GO:0070062 [extracellular exosome]
GO:2000291 [regulation of myoblast proliferation]
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 415 aa
45.5 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.