InnateDB Protein
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IDBP-293156.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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NAGA
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Protein Name
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N-acetylgalactosaminidase, alpha-
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Synonyms
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D22S674; GALB;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000385283
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InnateDB Gene
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IDBG-9617 (NAGA)
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Protein Structure
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Function |
Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids. {ECO:0000269PubMed:9741689}.
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Subcellular Localization |
Lysosome.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
6
[view]
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Protein-Protein |
3
[view]
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Protein-DNA |
3
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0004553
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hydrolase activity, hydrolyzing O-glycosyl compounds
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GO:0004557
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alpha-galactosidase activity
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GO:0008456
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alpha-N-acetylgalactosaminidase activity
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GO:0042803
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protein homodimerization activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000111
Glycoside hydrolase, clan GH-D
IPR002241
Glycoside hydrolase, family 27
IPR017853
Glycoside hydrolase, superfamily
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PFAM |
PF02065
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PRINTS |
PR00740
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P17050
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PhosphoSite |
PhosphoSite-P17050
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TrEMBL |
A0A024R1Q5
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UniProt Splice Variant |
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Entrez Gene |
4668
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UniGene |
Hs.75372
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RefSeq |
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HUGO |
HGNC:7631
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OMIM |
104170
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CCDS |
CCDS14030
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HPRD |
00076
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IMGT |
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EMBL |
BC000095
CH471095
CR456527
M29276
M38083
M59199
M62783
Z99716
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GenPept |
AAA36351
AAA51677
AAA59902
AAB06718
AAH00095
CAB41237
CAG30413
EAW60484
EAW60485
EAW60486
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