Endometriosis Knowledgebase

Search Result

Gene id

4669

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (42535932: 42544448) Exons: 6 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 Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008]

OMIM

609701

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: 82,266

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 IPR007781 IPR024732 IPR024240 IPR024733
Pfam:	PF05089 PF12972 PF12971
PDB:	4XWH
PDBsum:	4XWH
STRING:	ENSP00000225927;

Other Databases

GeneCards: NAGLU; Malacards: NAGLU

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004561	alpha-N-acetylglucosamini dase activity	TAS	molecular_function
GO:0004561	alpha-N-acetylglucosamini dase activity	TAS	molecular_function
GO:0005764	lysosome	TAS	cellular_component
GO:0006027	glycosaminoglycan catabol ic process	TAS	biological_process
GO:0007040	lysosome organization	IEA	biological_process
GO:0007399	nervous system developmen t	TAS	biological_process
GO:0021680	cerebellar Purkinje cell layer development	IEA	biological_process
GO:0042474	middle ear morphogenesis	IEA	biological_process
GO:0043202	lysosomal lumen	TAS	cellular_component
GO:0043202	lysosomal lumen	TAS	cellular_component
GO:0045475	locomotor rhythm	IEA	biological_process
GO:0046548	retinal rod cell developm ent	IEA	biological_process
GO:0060119	inner ear receptor cell d evelopment	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0004561	alpha-N-acetylglucosamini dase activity	IEA	molecular_function
GO:0004561	alpha-N-acetylglucosamini dase activity	TAS	molecular_function
GO:0004561	alpha-N-acetylglucosamini dase activity	TAS	molecular_function
GO:0004561	alpha-N-acetylglucosamini dase activity	TAS	molecular_function
GO:0005764	lysosome	IEA	cellular_component
GO:0005764	lysosome	IEA	cellular_component
GO:0005764	lysosome	TAS	cellular_component
GO:0006027	glycosaminoglycan catabol ic process	TAS	biological_process
GO:0007040	lysosome organization	IEA	biological_process
GO:0007399	nervous system developmen t	TAS	biological_process
GO:0008152	metabolic process	IEA	biological_process
GO:0016787	hydrolase activity	IEA	molecular_function
GO:0016798	hydrolase activity, actin g on glycosyl bonds	IEA	molecular_function
GO:0021680	cerebellar Purkinje cell layer development	IEA	biological_process
GO:0042474	middle ear morphogenesis	IEA	biological_process
GO:0043202	lysosomal lumen	TAS	cellular_component
GO:0043202	lysosomal lumen	TAS	cellular_component
GO:0045475	locomotor rhythm	IEA	biological_process
GO:0046548	retinal rod cell developm ent	IEA	biological_process
GO:0060119	inner ear receptor cell d evelopment	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0004561	alpha-N-acetylglucosamini dase activity	TAS	molecular_function
GO:0004561	alpha-N-acetylglucosamini dase activity	TAS	molecular_function
GO:0004561	alpha-N-acetylglucosamini dase activity	TAS	molecular_function
GO:0005764	lysosome	TAS	cellular_component
GO:0006027	glycosaminoglycan catabol ic process	TAS	biological_process
GO:0007399	nervous system developmen t	TAS	biological_process
GO:0043202	lysosomal lumen	TAS	cellular_component
GO:0043202	lysosomal lumen	TAS	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component

KEGG pathways

hsa01100  Metabolic pathways
hsa04142  Lysosome
hsa00531  Glycosaminoglycan degradation

Diseases

Associated diseases	References
Endometriosis	PMID: 22435532
Mucopolysaccharidosis	KEGG: H00421
Endometriosis associated infertility	INFBASE22435532
Endometriosis	INFBASE22435532

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
22435532	Endometrio sis			38 (18 endometr iosis anovulati on, 20 normally ovulating)	Female infertility		Show abstract