PMID:9602128

Citation	Herrmann, T, Schindler, D, Tabe, H, Onodera, O, Igarashi, S, Polack, A, Zehnpfennig, D and Shoji Tsuji, (1998) Molecular cloning, structural organization, sequence, chromosomal assignment, and expression of the mouse alpha-N-acetylgalactosaminidase gene. Gene 211:205-14
Abstract	Alpha-N-acetylgalactosaminidase (2-acetamido-2-deoxy-alpha-d-galactoside acetamidodeoxy-galactohydrolase, NAGA; EC 3.2.1.49) deficiency is a recently recognized autosomal recessive lysosomal disease. As a prerequisite for the generation of an animal model, the mouse NAGA gene was cloned and characterized. The NAGA gene was assigned to mouse chromosome 15 band E3, syntenic to the region encompassing the human gene, and NAGA-deficient mutant human cells transfected with the cosmid clone containing the mouse NAGA gene expressed NAGA activity. Comparison of the mouse NAGA nucleotide sequence with the human NAGA sequence predicted that the mouse NAGA gene contains an open reading frame of 1245bp, comprising nine coding exons and spanning a genomic region of 8258bp, and a 3' untranslated region of 0.5kb. The 5' untranslated region was determined in primer extension studies to be 235bp in length. Nucleotide identity between the human and mouse NAGA exons ranged from 67.4 to 89.5%, with better matches for exons 1-7 than for 8 and 9. The overall amino acid identity between the mouse and human deduced NAGA polypeptides was 82.0%, between those of mouse and chicken 72.9%. Homology was found to only one other mouse gene, i.e. the alpha-galactosidase A (GALA; EC 3.2.1. 22) gene. The amino acid identity ranged from 51.6 to 62.1% in the polypeptide regions corresponding to NAGA exons 2-7 and GALA exons 1-6, but little, if any, in the remainder. These analyses gave emphasis to the strong conservation of the NAGA gene and its origin from an ancestor common with the GALA gene, with NAGA exons 8 and 9 and GALA exon 7 being the most divergent regions in the evolution of the two genes.
Links	PubMed
Keywords	Amino Acid Sequence; Animals; Base Sequence; Chromosome Mapping; Chromosomes/genetics; Cloning, Molecular; DNA/chemistry; DNA/genetics; DNA/isolation & purification; Gene Expression/genetics; Genes/genetics; Hexosaminidases/genetics; Hexosaminidases/metabolism; Mice; Molecular Sequence Data; RNA, Messenger/analysis; Sequence Analysis, DNA; Sequence Homology, Amino Acid; Transcription, Genetic/genetics; alpha-N-Acetylgalactosaminidase
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Annotations

Gene product	Qualifier	GO Term	Evidence Code	with/from	Aspect	Extension	Notes	Status
MOUSE:NAGAB		GO:0008456: alpha-N-acetylgalactosaminidase activity	ECO:0000314:		F		Table 1	complete
MOUSE:NAGAB		GO:0008456: alpha-N-acetylgalactosaminidase activity	ECO:0000247:	UniProtKB:P17050	F		Fig 6	complete

References

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