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 zebrafish

Protein SuperFamily: alpha-N-acetylglucosaminidase
Gene Tree: Naglu

Human homologs

Human Homolog		NAGLU, N-acetylglucosaminidase, alpha
NCBI Gene ID		4669
neXtProt AC		NX_P54802
Human Synonyms		MPS3B, MPS-IIIB, NAG, UFHSD
Human Chr (Location)		17q21; chr17:40687951-40696467 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human NAGLU

Alleles and phenotypes

All alleles(3) : Targeted(3)
 

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 Using Mouse Naglu (2)    Alleles Annotated to Human Diseases(1)    Phenotype Images(6)

Gene Ontology (GO) classifications

All GO classifications: (10 annotations)

Process	cerebellar Purkinje cell layer development, inner ear receptor cell development, ...
Function	alpha-N-acetylglucosaminidase activity, hydrolase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (1 records)
Data Summary: Results (94)    Tissues (94)   
Theiler Stages: 22

Assay Type	Results
RNA in situ	94

cDNA source data(50)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(50) cDNA(50)
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.40162643, DT.94199485, DT.97362616
NIA Mouse Gene Index	U013353
EC	3.2.1.50
Consensus CDS Project	CCDS25444.1
International Mouse Knockout Project Status	Naglu

Sequences

Length	Strain/Species
genomic	OTTMUSG00000002689	VEGA Gene Model | MGI Sequence Detail	7661	C57BL/6J
transcript	OTTMUST00000005295	VEGA | MGI Sequence Detail	2560	Not Applicable
polypeptide	OTTMUSP00000002515	VEGA | MGI Sequence Detail	739	Not Applicable

All sequences(56) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(38 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:188147 Mohammed EE, et al., Accelerated clinical disease and pathology in mucopolysaccharidosis type IIIB and GalNAc transferase double knockout mice. Mol Genet Metab. 2012 Sep;107(1-2):129-35
All references(48)