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Naglu
Gene Detail
Symbol

Name
ID
Naglu
alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB)
MGI:1351641
Feature Type
protein coding gene
Genetic Map
Chromosome 11
64.15 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr11:101070012-101077672 bp, + strand
From VEGA annotation of GRCm38

  7661 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:222  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: NAGLU
Protein SuperFamily: alpha-N-acetylglucosaminidase
Gene Tree: Naglu

Human
homologs
NAGLU, N-acetylglucosaminidase, alpha
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4669
neXtProt AC: NX_P54802

Human Synonyms: MPS3B, MPS-IIIB, NAG, UFHSD

Human Chr (Location): 17q21; chr17:42535933-42544449 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human NAGLU

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Genomic Mutations involving Naglu (1)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a targeted null mutation exhibit reduced open field activity, massive accumulation of heparan sulfate in kidney and liver, elevated gangliosides in brain, and presence of vacuoles in macrophages, epithelial cells, and neurons.
 
Human Diseases Modeled in Mice Using Naglu (2)    Mutations Annotated to Human Diseases (1)    Phenotype Images(6)
Interactions
Naglu interacts with 41 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (8 annotations)
Process cerebellar Purkinje cell layer development, inner ear receptor cell development, ...
Component extracellular exosome
Function alpha-N-acetylglucosaminidase activity
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (94)    Tissues (94)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
cDNA source data(49)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase naglu    NEW 
Molecular
reagents
All nucleic(49) cDNA(49)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000002689 (Evidence)
Ensembl Gene Model ENSMUSG00000001751 (Evidence)
Entrez Gene 27419 (Evidence)
UniGene 95452
DFCI TC1576194
DoTS DT.94199485, DT.40162643, DT.97362616
NIA Mouse Gene Index U013353
EC 3.2.1.50
Consensus CDS Project CCDS25444.1
International Mouse Phenotyping Consortium Status Naglu
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000002689 VEGA Gene Model | MGI Sequence Detail 7661 C57BL/6J ±  kb
transcript OTTMUST00000005295 VEGA | MGI Sequence Detail 2560 Not Applicable 
polypeptide OTTMUSP00000002515 VEGA | MGI Sequence Detail 739 Not Applicable 

For the selected sequences
All sequences(60) RefSeq(4) UniProt(2)
Polymorphisms
SNPs within 2kb(52 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR007781 Alpha-N-acetylglucosaminidase
InterPro IPR024732 Alpha-N-acetylglucosaminidase, C-terminal
InterPro IPR024240 Alpha-N-acetylglucosaminidase, N-terminal
InterPro IPR024733 Alpha-N-acetylglucosaminidase, tim-barrel domain
Protein Ontology PR:000010962 alpha-N-acetylglucosaminidase
References
(Earliest) J:58950 Li HH, et al., Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase. Proc Natl Acad Sci U S A. 1999 Dec 7;96(25):14505-10
(Latest) J:219595 Ribera A, et al., Biochemical, histological and functional correction of mucopolysaccharidosis Type IIIB by intra-cerebrospinal fluid gene therapy. Hum Mol Genet. 2015 Apr 1;24(7):2078-95
All references(49)
Disease annotation references (6)

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
07/28/2015
MGI 5.22
The Jackson Laboratory