After several years of serving the research community, our ActiveDriverDB database will be retired on May 1st 2026. Please make sure to download any data you need and update your links or workflows before that date.

We want to sincerely thank all our users for their support, feedback, and collaboration over the years — your contributions have been invaluable to this project. A special thank you to Dr. Michal Krassowski for leading the development of our open-source software and database.

For any questions or assistance, please contact Jüri Reimand (juri.reimand@utoronto.ca).

You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020

GAA (NM_001079804) - glucosidase alpha, acid

Lysosomal Alpha-Glucosidase Preproprotein

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of GAA protein. View all 3 isoforms
GAA: lysosomal alpha-glucosidase preproprotein
Description:

This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016].

Strand
+
Chromosome
17
Protein
952 residues
All mutations
528
PTM sites
14
CDS
78,078,385 - 78,093,130
Transcription
78,075,354 - 78,093,679
6.93% of sequence is predicted to be disordered

Usage summary

Network

drag the background to move whole network
scroll to zoom in and out

PTM site

double click to focus on site's sub-network (or hide it)

Kinases group

double click to show/hide all kinases within the group.

Kinase, PTM site or protein

hover to see a tooltip with additional information
click to stick the tooltip
drag a node to move it and stick in a chosen place
shift + click to free a node which was stuck earlier

External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 2548
UniProt
Ensembl