InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NAGA

Summary

InnateDB Protein

IDBP-293155.5

Last Modified

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

Gene Symbol

NAGA

Protein Name

N-acetylgalactosaminidase, alpha-

Synonyms

D22S674; GALB;

Species

Homo sapiens

Ensembl Protein

ENSP00000384603

InnateDB Gene

IDBG-9617 (NAGA)

Protein Structure

UniProt Annotation

Function

Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids. {ECO:0000269PubMed:9741689}.

Subcellular Localization

Lysosome.

Disease Associations

Schindler disease (SCHIND) [MIM:609241]: Form of NAGA deficiency characterized by early-onset neuroaxonal dystrophy and neurological signs (convulsion during fever, epilepsy, psychomotor retardation and hypotonia). NAGA deficiency is typically classified in three main phenotypes: NAGA deficiency type I (Schindler disease or Schindler disease type I) with severe manifestations; NAGA deficiency type II (Kanzazi disease or Schindler disease type II) which is mild; NAGA deficiency type III (Schindler disease type III) characterized by mild-to-moderate neurologic manifestations. NAGA deficiency results in the increased urinary excretion of glycopeptides and oligosaccharides containing alpha-N-acetylgalactosaminyl moieties. Inheritance is autosomal recessive. {ECO:0000269PubMed:2243144, ECO:0000269PubMed:8782044}. Note=The disease is caused by mutations affecting the gene represented in this entry.Kanzaki disease (KANZD) [MIM:609242]: Autosomal recessive disorder characterized by late-onset, angiokeratoma corporis diffusum and mild intellectual impairment. {ECO:0000269PubMed:11251574, ECO:0000269PubMed:8040340}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	3 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0004557	alpha-galactosidase activity
GO:0008456	alpha-N-acetylgalactosaminidase activity
GO:0042803	protein homodimerization activity

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0009311	oligosaccharide metabolic process
GO:0016052	carbohydrate catabolic process
GO:0016139	glycoside catabolic process
GO:0019377	glycolipid catabolic process
GO:0046477	glycosylceramide catabolic process