• Gene id: 4669

Gene Summary

• Gene Symbol: NAGLU   Gene   UCSC   Ensembl
• Aliases: CMT2V, MPS-IIIB, MPS3B, NAG, UFHSD
• Gene name: N-acetyl-alpha-glucosaminidase
• Alternate names: alpha-N-acetylglucosaminidase, N-acetylglucosaminidase, alpha, testicular tissue protein Li 18,
• Gene location: 17q21.2 (42534237: 42544448)     Exons: 7     NC_000017.11
• Gene summary(Entrez): This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfili
• OMIM: 608886

Protein Summary

• Protein general information: P54802  
  • Name: Alpha N acetylglucosaminidase (EC 3.2.1.50) (N acetyl alpha glucosaminidase) (NAG) [Cleaved into: Alpha N acetylglucosaminidase 82 kDa form; Alpha N acetylglucosaminidase 77 kDa form]
  • Length: 743  
  • Mass: 82266
  • Tissue specificity: Liver, ovary, peripheral blood leukocytes, testis, prostate, spleen, colon, lung, placenta and kidney.
• Sequence:

  MEAVAVAAAVGVLLLAGAGGAAGDEAREAAAVRALVARLLGPGPAADFSVSVERALAAKPGLDTYSLGGGGAARV
  RVRGSTGVAAAAGLHRYLRDFCGCHVAWSGSQLRLPRPLPAVPGELTEATPNRYRYYQNVCTQSYSFVWWDWARW
  EREIDWMALNGINLALAWSGQEAIWQRVYLALGLTQAEINEFFTGPAFLAWGRMGNLHTWDGPLPPSWHIKQLYL
  QHRVLDQMRSFGMTPVLPAFAGHVPEAVTRVFPQVNVTKMGSWGHFNCSYSCSFLLAPEDPIFPIIGSLFLRELI
  KEFGTDHIYGADTFNEMQPPSSEPSYLAAATTAVYEAMTAVDTEAVWLLQGWLFQHQPQFWGPAQIRAVLGAVPR
  GRLLVLDLFAESQPVYTRTASFQGQPFIWCMLHNFGGNHGLFGALEAVNGGPEAARLFPNSTMVGTGMAPEGISQ
  NEVVYSLMAELGWRKDPVPDLAAWVTSFAARRYGVSHPDAGAAWRLLLRSVYNCSGEACRGHNRSPLVRRPSLQM
  NTSIWYNRSDVFEAWRLLLTSAPSLATSPAFRYDLLDLTRQAVQELVSLYYEEARSAYLSKELASLLRAGGVLAY
  ELLPALDEVLASDSRFLLGSWLEQARAAAVSEAEADFYEQNSRYQLTLWGPEGNILDYANKQLAGLVANYYTPRW
  RLFLEALVDSVAQGIPFQQHQFDKNVFQLEQAFVLSKQRYPSQPRGDTVDLAKKIFLKYYPRWVAGSW

• Structural information:
  • Interpro: IPR017853  IPR029018  IPR007781  IPR024732  IPR024240   IPR024733  
  • PDB: 4XWH
  • PDBsum: 4XWH
  • STRING: ENSP00000225927
• Other Databases: GeneCards:  NAGLU  Malacards:  NAGLU

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0008152	metabolic process	IEA	biological process
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0004561	alpha-N-acetylglucosaminidase activity	TAS	molecular function
GO:0007399	nervous system development	TAS	biological process
GO:0005764	lysosome	TAS	cellular component
GO:0004561	alpha-N-acetylglucosaminidase activity	IEA	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0004561	alpha-N-acetylglucosaminidase activity	TAS	molecular function
GO:0004561	alpha-N-acetylglucosaminidase activity	TAS	molecular function
GO:0006027	glycosaminoglycan catabolic process	TAS	biological process
GO:0042474	middle ear morphogenesis	IEA	biological process
GO:0060119	inner ear receptor cell development	IEA	biological process
GO:0007040	lysosome organization	IEA	biological process
GO:0021680	cerebellar Purkinje cell layer development	IEA	biological process
GO:0045475	locomotor rhythm	IEA	biological process
GO:0046548	retinal rod cell development	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04142	Lysosome
hsa00531	Glycosaminoglycan degradation

Diseases

Associated diseases	References
Mucopolysaccharidosis	KEGG:H00421
Mucopolysaccharidosis type III	KEGG:H00130
Mucopolysaccharidosis	KEGG:H00421
Mucopolysaccharidosis type III	KEGG:H00130
mucopolysaccharidosis III	PMID:4261742
mucopolysaccharidosis III	PMID:11136549
mucopolysaccharidosis III	PMID:11668611
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq