Seroatlas · Human Serome Atlas

NEU1

Sialidase-1

Also known as: NEU, NEUR1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q99519
Gene
NEU1
Ensembl
ENSG00000204386
Chromosome
6
Canonical length
415 aa
Protein class
Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted intracellular proteins
Subcellular location
Vesicles,Cell Junctions

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

415 residues, UniProt reviewed canonical sequence.

>Q99519|NEU1
     1  MTGERPSTAL PDRRWGPRIL GFWGGCRVWV FAAIFLLLSL AASWSKAEND FGLVQPLVTM
    61  EQLLWVSGRQ IGSVDTFRIP LITATPRGTL LAFAEARKMS SSDEGAKFIA LRRSMDQGST
   121  WSPTAFIVND GDVPDGLNLG AVVSDVETGV VFLFYSLCAH KAGCQVASTM LVWSKDDGVS
   181  WSTPRNLSLD IGTEVFAPGP GSGIQKQREP RKGRLIVCGH GTLERDGVFC LLSDDHGASW
   241  RYGSGVSGIP YGQPKQENDF NPDECQPYEL PDGSVVINAR NQNNYHCHCR IVLRSYDACD
   301  TLRPRDVTFD PELVDPVVAA GAVVTSSGIV FFSNPAHPEF RVNLTLRWSF SNGTSWRKET
   361  VQLWPGPSGY SSLATLEGSM DGEEQAPQLY VLYEKGRNHY TESISVAKIS VYGTL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NEU1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.26
Highest tissue expression
9.9 nTPM

Expression across tissuesHPA

Tissue

  • adrenal gland: 9.9 nTPM
  • pancreas: 7.9 nTPM
  • kidney: 6.8 nTPM
  • salivary gland: 6.8 nTPM
  • stomach: 5 nTPM
  • skeletal muscle: 4.5 nTPM

Single-cell type

  • papillary tip epithelial cells: 15 nCPM
  • other brain neurons: 15 nCPM
  • renal collecting duct principal cells: 11 nCPM
  • distal convoluted tubule cells: 11 nCPM
  • brain excitatory neurons: 10 nCPM
  • proximal tubule cells: 10 nCPM

Immune cell

  • neutrophil: 3 nTPM
  • basophil: 1.4 nTPM
  • naive B-cell: 0.6 nTPM
  • eosinophil: 0.4 nTPM
  • naive CD8 T-cell: 0.4 nTPM
  • NK-cell: 0.4 nTPM

Brain region

  • cerebellum: 8.6 nTPM
  • white matter: 7.2 nTPM
  • choroid plexus: 6.4 nTPM
  • cerebral cortex: 6.3 nTPM
  • thalamus: 5.8 nTPM
  • basal ganglia: 5.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NEU1.

Disease | AllUniProt

Conditions NEU1 is implicated in, by any mechanism.

Disease | GeneticClinVar

67 pathogenic / likely-pathogenic of 356 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.84
gnomAD pLI
0
gnomAD missense Z
1.42
DepMap mean gene effect
-0.11
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NEU1 as an antibody target. Whether an autoantibody or antibody against NEU1 could matter depends on whether native NEU1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NEU1 is annotated at the cell surface, where native NEU1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label NEU1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NEU1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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