AGA: Gene

Aspartylglucosaminidase (AGA) gene
The gene that causes Aspartylglycosaminuria is called the aspartylglucosaminidase gene (NIH Genetics Reference). It makes an enzyme with the same name, aspartylglucosaminidase, or more specifically N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase.

Cytogenetic Location: 4q34.3

Molecular Location on chromosome 4:

Start: 178,351,924 bp from pter

End: 178,363,657 bp from pter
Size: 11,734 bases
Orientation: minus strand

Coding position:

From 178,352,052 to 178,362,716
[length: 10,665 bp]

The AGA gene is made up of nine exons

Identifier Position
on gene Length Coding for
Iso 1
ENST00000264595

ENSE00002055757 1 – 255 255 Met 1 – Ala 43

ENSE00002496979 2078 – 2231 154 Ala 43 – Gly 94

ENSE00002439743 2816 – 2928 113 Gly 94 – Ala 132

ENSE00002443471 3647 – 3759 113 Ala 132 – Arg 169

ENSE00002496137 4985 – 5099 115 Asn 170 – Gly 208

ENSE00002233825 6153 – 6228 76 Gly 208 – Gly 233

ENSE00002227706 8015 – 8122 108 Gly 233 – Ser 269

ENSE00002212427 9157 – 9290 134 Ser 269 – Gly 314

ENSE00002255233 10696 – 11734 1039 Gly 314 – Ile 346

The nine exons are separated by introns whose sizes in kb are shown in italics. The gene encodes a 346-amino acid single-chain polypeptide that contains a 23-amino acid signal peptide (shaded). Self-cleavage of the nascent single-chain precursor occurs between residues D205 and T206 to form the active α/β-glycosylasparaginase. Exon and intron sequences can be found in GenBank U21273–U21281.

Identifier	Position on gene	Length
ENSE00002055757	1 – 255	255	Met 1 – Ala 43
ENSE00002496979	2078 – 2231	154	Ala 43 – Gly 94
ENSE00002439743	2816 – 2928	113	Gly 94 – Ala 132
ENSE00002443471	3647 – 3759	113	Ala 132 – Arg 169
ENSE00002496137	4985 – 5099	115	Asn 170 – Gly 208
ENSE00002233825	6153 – 6228	76	Gly 208 – Gly 233
ENSE00002227706	8015 – 8122	108	Gly 233 – Ser 269
ENSE00002212427	9157 – 9290	134	Ser 269 – Gly 314
ENSE00002255233	10696 – 11734	1039	Gly 314 – Ile 346