N-acetyl-alpha-glucosaminidase

Summary
Gene Symbol
  • NAGLU
Aliases
  • NAG
  • Sanfilippo disease IIIB
Organism
Homo sapiens (human)
External Links
NCBI Gene
4669
HGNC
7632
KEGG Gene ID
hsa:4669
PubChem
4669
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Charcot-Marie-Tooth disease
  • Direct protein sequencing
  • Disease variant
  • Glycoprotein
  • Glycosidase
  • Hydrolase
  • Lysosome
  • Mucopolysaccharidosis
  • Neurodegeneration
  • Reference proteome
  • Signal
Proteins
Displaying all 2 entries
UniProt Protein Name
A0A140VJE4
P54802
  • N-acetyl-alpha-glucosaminidase
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000108784

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K01205
Name
alpha-N-acetylglucosaminidase [EC:3.2.1.50]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R07816
Disease
Disease Ontology
Displaying entries 11 - 20 of 114 in total
DO ID Disease Name Source
DOID:0070226 progressive familial intrahepatic cholestasis 1
DOID:0110178 Charcot-Marie-Tooth disease axonal type 2V
DOID:0110307 hypertrophic cardiomyopathy 1
DOID:0111044 gray platelet syndrome
DOID:0111051 platelet-type bleeding disorder 18
DOID:0111390 mucopolysaccharidosis Ih
DOID:0111391 mucopolysaccharidosis IVA
DOID:0111393 mucopolysaccharidosis type IIIC
DOID:0111394 mucopolysaccharidosis type IIIB
DOID:0111395 mucopolysaccharidosis type IIIA
The Human Phenotype Ontology
Displaying entries 21 - 30 of 40 in total
HPO ID HPO Term
HP:0002014 Diarrhea
HP:0002159 Heparan sulfate excretion in urine
HP:0002208 Coarse hair
HP:0002240 Hepatomegaly
HP:0002344 Progressive neurologic deterioration
HP:0002360 Sleep abnormality
HP:0002495 Impaired vibratory sensation
HP:0002788 Recurrent upper respiratory tract infections
HP:0002936 Distal sensory impairment
HP:0003309 Ovoid thoracolumbar vertebrae
Displaying all 2 entries
Disease ID Disease Name
OMIM:252920
  • mucopolysaccharidosis type 3B
OMIM:616491
  • Charcot-Marie-Tooth disease axonal type 2V

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024