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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
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:101070094-101077672 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 64.15 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    52 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1351641
protein coding gene Chr11:101070012-101077672 (.)
129S1/SvImJ MGP_129S1SvImJ_G0019176
protein coding gene Chr11:103880328-103887694 (+)
A/J MGP_AJ_G0019144
protein coding gene Chr11:99527300-99534949 (+)
AKR/J MGP_AKRJ_G0019113
protein coding gene Chr11:102624314-102631978 (+)
BALB/cJ MGP_BALBcJ_G0019118
protein coding gene Chr11:100021762-100029433 (+)
C3H/HeJ MGP_C3HHeJ_G0018927
protein coding gene Chr11:102794427-102801869 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019567
protein coding gene Chr11:107082455-107103359 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017193
protein coding gene Chr11:96945301-96953037 (+)
CAST/EiJ MGP_CASTEiJ_G0018481
protein coding gene Chr11:103780920-103788359 (+)
CBA/J MGP_CBAJ_G0018896
protein coding gene Chr11:111560081-111567451 (+)
DBA/2J MGP_DBA2J_G0019008
protein coding gene Chr11:99062327-99069978 (+)
FVB/NJ MGP_FVBNJ_G0018998
protein coding gene Chr11:98604572-98612689 (+)
LP/J MGP_LPJ_G0019077
protein coding gene Chr11:104429579-104437263 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019029
protein coding gene Chr11:111128347-111136005 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019605
protein coding gene Chr11:102942640-102950272 (+)
PWK/PhJ MGP_PWKPhJ_G0018244
protein coding gene Chr11:100113044-100120582 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018036
protein coding gene Chr11:102679235-102686614 (+)
WSB/EiJ MGP_WSBEiJ_G0018530
protein coding gene Chr11:102940474-102949528 (+)



Homology
more
  • Human Ortholog
    NAGLU, N-acetyl-alpha-glucosaminidase
  • Vertebrate Orthologs
    9
  • Human Ortholog
    NAGLU, N-acetyl-alpha-glucosaminidase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CMT2V, MPS3B, MPS-IIIB, NAG, UFHSD
  • Links
    NCBI Gene ID: 4669
    neXtProt AC: NX_P54802
    UniProt: P54802

  • Chr Location
    17q21.2; chr17:42535933-42544449 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 3 models
      
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    54 phenotypes from 1 allele in 3 genetic backgrounds
    6 images
    35 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 27419 NCBI Gene Model | MGI Sequence Detail 7579 C57BL/6J ±  kb
    transcript NM_013792 RefSeq | MGI Sequence Detail 2504 C57BL/6  
    polypeptide NP_038820 RefSeq | MGI Sequence Detail 739 C57BL/6  
    For the selected sequence
    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
      IPR029018 Beta-hexosaminidase-like, domain 2
    Molecular
    Reagents
    less
    • All nucleic 50
      cDNA 50

      Microarray probesets 3
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 1
      Diseases 3
      Gene Ontology 3
      Phenotypes 35
    • Earliest
      J:50799 Liu P, et al., Embryonic lethality and tumorigenesis caused by segmental aneuploidy on mouse chromosome 11. Genetics. 1998 Nov;150(3):1155-68
    • Latest
      J:238392 Schiattarella GG, et al., The Murine Model of Mucopolysaccharidosis IIIB Develops Cardiopathies over Time Leading to Heart Failure. PLoS One. 2015;10(7):e0131662

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory