InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NAGLU

Summary

InnateDB Protein

IDBP-50978.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NAGLU

Protein Name

N-acetylglucosaminidase, alpha

Synonyms

MPS-IIIB; MPS3B; NAG; UFHSD;

Species

Homo sapiens

Ensembl Protein

ENSP00000225927

InnateDB Gene

IDBG-50976 (NAGLU)

Protein Structure

UniProt Annotation

Function

Involved in the degradation of heparan sulfate.

Subcellular Localization

Lysosome.

Disease Associations

Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]: A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. {ECO:0000269PubMed:10094189, ECO:0000269PubMed:11068184, ECO:0000269PubMed:11153910, ECO:0000269PubMed:11286389, ECO:0000269PubMed:11793481, ECO:0000269PubMed:11836372, ECO:0000269PubMed:12202988, ECO:0000269PubMed:14984474, ECO:0000269PubMed:15933803, ECO:0000269PubMed:16151907, ECO:0000269PubMed:9443875, ECO:0000269PubMed:9443878, ECO:0000269PubMed:9832037, ECO:0000269PubMed:9950362}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Liver, ovary, peripheral blood leukocytes, testis, prostate, spleen, colon, lung, placenta and kidney.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004561	alpha-N-acetylglucosaminidase activity

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006027	glycosaminoglycan catabolic process
GO:0007040	lysosome organization
GO:0007399	nervous system development
GO:0021680	cerebellar Purkinje cell layer development
GO:0030203	glycosaminoglycan metabolic process
GO:0042474	middle ear morphogenesis
GO:0044281	small molecule metabolic process
GO:0045475	locomotor rhythm
GO:0046548	retinal rod cell development
GO:0060119	inner ear receptor cell development