• Gene id: 4668

Gene Summary

• Gene Symbol: NAGA   Gene   UCSC   Ensembl
• Aliases: D22S674, GALB
• Gene name: alpha-N-acetylgalactosaminidase
• Alternate names: alpha-N-acetylgalactosaminidase, Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B), N-acetylgalactosaminidase, alpha-, alpha-galactosidase B,
• Gene location: 22q13.2 (42070841: 42058333)     Exons: 10     NC_000022.11
• Gene summary(Entrez): NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Ka
• OMIM: 104170

Protein Summary

• Protein general information: P17050  
  • Name: Alpha N acetylgalactosaminidase (EC 3.2.1.49) (Alpha galactosidase B)
  • Length: 411  
  • Mass: 46565
• Sequence:

  MLLKTVLLLGHVAQVLMLDNGLLQTPPMGWLAWERFRCNINCDEDPKNCISEQLFMEMADRMAQDGWRDMGYTYL
  NIDDCWIGGRDASGRLMPDPKRFPHGIPFLADYVHSLGLKLGIYADMGNFTCMGYPGTTLDKVVQDAQTFAEWKV
  DMLKLDGCFSTPEERAQGYPKMAAALNATGRPIAFSCSWPAYEGGLPPRVNYSLLADICNLWRNYDDIQDSWWSV
  LSILNWFVEHQDILQPVAGPGHWNDPDMLLIGNFGLSLEQSRAQMALWTVLAAPLLMSTDLRTISAQNMDILQNP
  LMIKINQDPLGIQGRRIHKEKSLIEVYMRPLSNKASALVFFSCRTDMPYRYHSSLGQLNFTGSVIYEAQDVYSGD
  IISGLRDETNFTVIINPSGVVMWYLYPIKNLEMSQQ

• Structural information:
  • Interpro: IPR013785  IPR002241  IPR000111  IPR013780  IPR017853   IPR035373  
  • Prosite: PS00512
  • CDD: cd14792
  • PDB: 3H53 3H54 3H55 3IGU 4DO4 4DO5 4DO6
  • PDBsum: 3H53 3H54 3H55 3IGU 4DO4 4DO5 4DO6
  • STRING: ENSP00000379680
• Other Databases: GeneCards:  NAGA  Malacards:  NAGA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016139	glycoside catabolic process	IBA	biological process
GO:0004557	alpha-galactosidase activity	IBA	molecular function
GO:0046477	glycosylceramide catabolic process	IBA	biological process
GO:0009311	oligosaccharide metabolic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0016052	carbohydrate catabolic process	IDA	biological process
GO:0008456	alpha-N-acetylgalactosaminidase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0019377	glycolipid catabolic process	IMP	biological process
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0008456	alpha-N-acetylgalactosaminidase activity	TAS	molecular function
GO:0008456	alpha-N-acetylgalactosaminidase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04142	Lysosome
hsa00603	Glycosphingolipid biosynthesis - globo and isoglobo series

Diseases

Associated diseases	References
Glycoproteinoses	KEGG:H00422
Alpha-N-acetylgalactosaminidase deficiency	KEGG:H00146
Glycoproteinoses	KEGG:H00422
Alpha-N-acetylgalactosaminidase deficiency	KEGG:H00146
Neuroaxonal dystrophy	PMID:2243144
Angiokeratoma	PMID:8040340
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq