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Neu1
Gene Detail
Symbol

Name
ID
Neu1
neuraminidase 1
MGI:97305
Synonyms
Aglp, Apl, Bat7, Bat-7, G9, lysosomal sialidase, Map-2, Neu-1, sialidase 1
Feature Type
protein coding gene
Genetic Map
Chromosome 17
18.48 cM
Detailed Genetic Map ± 1 cM


Mapping data(20)
Sequence Map
Chr17:34931253-34935953 bp, + strand
From VEGA annotation of GRCm38

  4701 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:375  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: NEU1
Gene Tree: Neu1

Human
homologs
NEU1, sialidase 1 (lysosomal sialidase)
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4758
neXtProt AC: NX_Q99519

Human Synonyms: NANH, NEU, SIAL1

Human Chr (Location): 6p21.3; chr6:31859052-31862932 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human NEU1

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Nullizygous mice develop features of early-onset lysosomal storage disease (sialidosis), including severe nephropathy, edema, splenomegaly, kyphosis and oligosacchariduria, and display myoclonus, lordosis, extramedullary hematopoiesis, dyspnea, weight loss, gait defects, tremors and premature death.
 
Human Diseases Modeled in Mice Using Neu1 (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Neu1 interacts with 157 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (26 annotations)
Process carbohydrate metabolic process, lipid catabolic process, ...
Component cell junction, cell surface, ...
Function exo-alpha-(2->3)-sialidase activity, exo-alpha-(2->6)-sialidase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (10 records)
Data Summary: Results (117)    Tissues (102)    Images (13)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 110
RT-PCR 7
cDNA source data(169)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase neu1    NEW 
Molecular
reagents
All nucleic(175) Genomic(3) cDNA(170) Primer pair(1) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000037276 (Evidence)
Ensembl Gene Model ENSMUSG00000007038 (Evidence)
Entrez Gene 18010 (Evidence)
UniGene 8856
DFCI TC1572949, TC1639805, TC1642176, TC1677449, TC1778992
DoTS DT.101128296, DT.111069065, DT.494582
NIA Mouse Gene Index U017876
EC 3.2.1.18
Consensus CDS Project CCDS28668.1
International Mouse Phenotyping Consortium Status Neu1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000037276 VEGA Gene Model | MGI Sequence Detail 4701 C57BL/6J ±  kb
transcript OTTMUST00000096159 VEGA | MGI Sequence Detail 2474 Not Applicable 
polypeptide OTTMUSP00000053690 VEGA | MGI Sequence Detail 409 Not Applicable 

For the selected sequences
All sequences(48) RefSeq(2) UniProt(2)
Polymorphisms
SNPs within 2kb(95 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026856 Sialidase family
InterPro IPR011040 Sialidases
Protein Ontology PR:000011145 sialidase-1
References
(Earliest) J:4457 Lalley PA, et al., Lysosomal Acid Phosphatase Deficiency: Liver Specific Variant in the Mouse. Genetics. 1977 Oct;87(2):305-317
(Latest) J:223503 Annunziata I, et al., Lysosomal NEU1 deficiency affects amyloid precursor protein levels and amyloid-beta secretion via deregulated lysosomal exocytosis. Nat Commun. 2013;4:2734
All references(85)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-1182, MGD-MRK-12114, MGD-MRK-12819, MGD-MRK-12820, MGD-MRK-1358, MGD-MRK-1504, MGD-MRK-1512, MGI:2146738, MGI:2146740, MGI:88131

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory