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 zebrafish

Gene Tree: Neu1

Human homologs

Human Homolog		NEU1, sialidase 1 (lysosomal sialidase)
NCBI Gene ID		4758
neXtProt AC		NX_Q99519
Human Synonyms		NANH, NEU, SIAL1
Human Chr (Location)		6p21.3; chr6:31859052-31862932 (-)  GRCh38
Disease Associations		(1) Diseases Associated with Human NEU1

Alleles and phenotypes

All alleles(7) : Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 

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 Using Mouse Neu1 (1)    Alleles Annotated to Human Diseases(2)   

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: (11 records)

Data Summary: Results (117)    Tissues (101)    Images (13)
Theiler Stages: 20, 22, 23, 24, 26, 28

Assay Type	Results
RNA in situ	110
RT-PCR	7

cDNA source data(169)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Neu1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000037276	VEGA Gene Model | MGI Sequence Detail	4701	C57BL/6J
transcript	OTTMUST00000096159	VEGA | MGI Sequence Detail	2474	Not Applicable
polypeptide	OTTMUSP00000053690	VEGA | MGI Sequence Detail	409	Not Applicable

All sequences(47) RefSeq(2) UniProt(2)

Polymorphisms

SNPs within 2kb(95 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
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:204121 Bonten EJ, et al., Chaperone-mediated gene therapy with recombinant AAV-PPCA in a new mouse model of type I sialidosis. Biochim Biophys Acta. 2013 Oct;1832(10):1784-92
All references(89)

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