Warning (512): _cake_core_ cache was unable to write 'cake_dev_eng' to File cache [CORE/Cake/Cache/Cache.php, line 323]
Warning (512): _cake_model_ cache was unable to write 'default_citloci_list' to File cache [CORE/Cake/Cache/Cache.php, line 323]
Warning (512): _cake_model_ cache was unable to write 'default_citloci_list' to File cache [CORE/Cake/Cache/Cache.php, line 323]
Warning (512): _cake_model_ cache was unable to write 'default_citloci_genes' to File cache [CORE/Cake/Cache/Cache.php, line 323]
Warning (512): _cake_model_ cache was unable to write 'default_citloci_genes' to File cache [CORE/Cake/Cache/Cache.php, line 323]
Institute of Cardiovascular Regeneration Webtool Repository

C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: glucosidase, alpha; acid
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000171298 GAA 9606 + 17:80101556-80119879 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000302262 GAA-002 80101704-80119879 protein_coding
  ENST00000390015 GAA-001 80101594-80119877 protein_coding
  ENST00000570716 GAA-007 80112384-80113271 retained_intron
  ENST00000570803 GAA-005 80101556-80107718 protein_coding
  ENST00000572080 GAA-008 80111002-80117082 nonsense_mediated_decay
  ENST00000572803 GAA-006 80111733-80112948 retained_intron
  ENST00000573556 GAA-009 80116826-80119275 retained_intron
  ENST00000574376 GAA-003 80101597-80102733 processed_transcript
  ENST00000577106 GAA-004 80101587-80105828 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000302262ENST00000390015ENST00000570803ENST00000572080ENST00000577106
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000302262 N/A N/A N/A 0.490±0.00 N/A N/A N/A N/A N/A 0.538±0.00 N/A N/A N/A 28.920±13.99
ENST00000390015 5.698±0.00 4.510±0.00 0.870±0.00 1.303±0.69 5.904±0.00 3.094±2.90 5.123±0.00 10.166±0.00 4.719±3.15 6.670±4.67 14.611±0.00 4.475±2.93 76.148±7.74 16.349±2.70
ENST00000570803 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.326±0.00 N/A N/A
ENST00000572080 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.821±0.00 N/A N/A
ENST00000577106 N/A N/A N/A N/A N/A 0.861±0.00 N/A N/A N/A N/A N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00003V CIL_00003V_0001 CGP 17:80036632-80119879
CIL_00005R CIL_00005R_0001 CGP 17:80101556-80147183

Gene Ontology

GO IDEvidence TypeGO Description
GO:0000023 IC maltose metabolic process
GO:0002026 IEA regulation of the force of heart contraction
GO:0002086 IMP diaphragm contraction
GO:0003007 IEA heart morphogenesis
GO:0003824 IEA catalytic activity
GO:0004553 IEA hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0004558 IDA alpha-1,4-glucosidase activity
GO:0005764 IDA lysosome
GO:0005765 IDA lysosomal membrane
GO:0005975 IEA carbohydrate metabolic process
GO:0005977 IEA glycogen metabolic process
GO:0005980 IDA glycogen catabolic process
GO:0005985 IC sucrose metabolic process
GO:0006006 IC glucose metabolic process
GO:0006941 IEA striated muscle contraction
GO:0007040 IMP lysosome organization
GO:0007626 IEA locomotory behavior
GO:0009888 IEA tissue development
GO:0016020 IDA membrane
GO:0030246 IEA carbohydrate binding
GO:0032450 IEA maltose alpha-glucosidase activity
GO:0043181 IMP vacuolar sequestering
GO:0046716 IEA muscle cell cellular homeostasis
GO:0050884 IEA neuromuscular process controlling posture
GO:0050885 IEA neuromuscular process controlling balance
GO:0060048 IMP cardiac muscle contraction
GO:0070062 IDA extracellular vesicular exosome

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000090714 gaa glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II) protein_coding Danio_rerio
ENSMUSG00000025579 Gaa glucosidase, alpha, acid protein_coding Mus_musculus

Loading

Warning (512): _cake_core_ cache was unable to write 'file_map' to File cache [CORE/Cake/Cache/Cache.php, line 323]
Warning (512): _cake_core_ cache was unable to write 'method_cache' to File cache [CORE/Cake/Cache/Cache.php, line 323]