About   Help   FAQ
Naglu Gene Detail
Summary
  • Symbol
    Naglu
  • Name
    alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB)
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351641
    NCBI Gene: 27419
  • Gene Overview
    MyGene.info: NAGLU
Location & Maps
more
  • Sequence Map
    Chr11:101070012-101077672 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      7661 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 64.15 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    NAGLU, N-acetyl-alpha-glucosaminidase
  • Vertebrate Orthologs
    9
  • Human Ortholog
    NAGLU, N-acetyl-alpha-glucosaminidase
    Orthology source: HomoloGene
  • Synonyms
    CMT2V, MPS3B, MPS-IIIB, NAG, UFHSD
  • Links
    NCBI Gene ID: 4669
    neXtProt AC: NX_P54802

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

Human Diseases
more
  • Diseases
    2 with Naglu mouse models; 2 with human NAGLU associations

Human Disease Mouse Models
       Mucopolysaccharidosis, Type IIIB; MPS3B   OMIM: 252920 View 3 models
       Otitis Media, Susceptibility to   OMIM: 166760 View 1 model
       Charcot-Marie-Tooth Disease, Axonal, Type 2v; CMT2V   OMIM: 616491
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    54 phenotypes from 1 allele in 3 genetic backgrounds
    6 images
    32 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    4
  • Targeted
    4
  • Genomic Mutations
    1 involving Naglu
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
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 sequence
Polymorphisms
less
  • SNPs within 2kb
    52 from dbSNP Build 142
Protein
Information
less
  • UniProt
    2 Sequences
  • EC
  • InterPro Domains
    IPR007781 Alpha-N-acetylglucosaminidase
    IPR024732 Alpha-N-acetylglucosaminidase, C-terminal
    IPR024240 Alpha-N-acetylglucosaminidase, N-terminal
    IPR024733 Alpha-N-acetylglucosaminidase, tim-barrel domain
Molecular
Reagents
less
  • All nucleic 49
    cDNA 49

    Microarray probesets 3
References
more
  • Summaries
    All 46
    Developmental Gene Expression 1
    Diseases 6
    Gene Ontology 3
    Phenotypes 32
  • 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/17/2016
MGI 6.05
The Jackson Laboratory