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GAA (glucosidase alpha, acid)

Identity

Alias_namesglucosidase, alpha; acid
Other aliasLYAG
HGNC (Hugo) GAA
LocusID (NCBI) 2548
Atlas_Id 63640
Location 17q25.3  [Link to chromosome band 17q25]
Location_base_pair Starts at 80101526 and ends at 80119882 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
RPTOR (17q25.3) / GAA (17q25.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GAA   4065
LRG (Locus Reference Genomic)LRG_673
Cards
Entrez_Gene (NCBI)GAA  2548  glucosidase alpha, acid
AliasesLYAG
GeneCards (Weizmann)GAA
Ensembl hg19 (Hinxton)ENSG00000171298 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171298 [Gene_View]  chr17:80101526-80119882 [Contig_View]  GAA [Vega]
ICGC DataPortalENSG00000171298
TCGA cBioPortalGAA
AceView (NCBI)GAA
Genatlas (Paris)GAA
WikiGenes2548
SOURCE (Princeton)GAA
Genetics Home Reference (NIH)GAA
Genomic and cartography
GoldenPath hg38 (UCSC)GAA  -     chr17:80101526-80119882 +  17q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GAA  -     17q25.3   [Description]    (hg19-Feb_2009)
EnsemblGAA - 17q25.3 [CytoView hg19]  GAA - 17q25.3 [CytoView hg38]
Mapping of homologs : NCBIGAA [Mapview hg19]  GAA [Mapview hg38]
OMIM232300   606800   
Gene and transcription
Genbank (Entrez)AK299462 AW515241 BC015908 BC040431 BC065262
RefSeq transcript (Entrez)NM_000152 NM_001079803 NM_001079804
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GAA
Cluster EST : UnigeneHs.733627 [ NCBI ]
CGAP (NCI)Hs.733627
Alternative Splicing GalleryENSG00000171298
Gene ExpressionGAA [ NCBI-GEO ]   GAA [ EBI - ARRAY_EXPRESS ]   GAA [ SEEK ]   GAA [ MEM ]
Gene Expression Viewer (FireBrowse)GAA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2548
GTEX Portal (Tissue expression)GAA
Protein : pattern, domain, 3D structure
UniProt/SwissProtP10253   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP10253  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP10253
Splice isoforms : SwissVarP10253
Catalytic activity : Enzyme3.2.1.20 [ Enzyme-Expasy ]   3.2.1.203.2.1.20 [ IntEnz-EBI ]   3.2.1.20 [ BRENDA ]   3.2.1.20 [ KEGG ]   
PhosPhoSitePlusP10253
Domaine pattern : Prosite (Expaxy)GLYCOSYL_HYDROL_F31_1 (PS00129)    GLYCOSYL_HYDROL_F31_2 (PS00707)    P_TREFOIL_1 (PS00025)    P_TREFOIL_2 (PS51448)   
Domains : Interpro (EBI)Gal_mutarotase_N    Gal_mutarotase_SF_dom    Glyco_hydro_31    Glyco_hydro_31_AS    Glyco_hydro_31_CS    Glyco_hydro_31_N_dom    Glycoside_hydrolase_SF    P_trefoil_CS    P_trefoil_dom   
Domain families : Pfam (Sanger)Gal_mutarotas_2 (PF13802)    Glyco_hydro_31 (PF01055)    NtCtMGAM_N (PF16863)    Trefoil (PF00088)   
Domain families : Pfam (NCBI)pfam13802    pfam01055    pfam16863    pfam00088   
Domain families : Smart (EMBL)PD (SM00018)  
Conserved Domain (NCBI)GAA
DMDM Disease mutations2548
Blocks (Seattle)GAA
SuperfamilyP10253
Human Protein AtlasENSG00000171298
Peptide AtlasP10253
HPRD06006
IPIIPI00293088   
Protein Interaction databases
DIP (DOE-UCLA)P10253
IntAct (EBI)P10253
FunCoupENSG00000171298
BioGRIDGAA
STRING (EMBL)GAA
ZODIACGAA
Ontologies - Pathways
QuickGOP10253
Ontology : AmiGOmaltose metabolic process  regulation of the force of heart contraction  diaphragm contraction  heart morphogenesis  alpha-1,4-glucosidase activity  alpha-1,4-glucosidase activity  oligo-1,6-glucosidase activity  lysosome  lysosomal membrane  plasma membrane  glycogen catabolic process  glycogen catabolic process  sucrose metabolic process  glucose metabolic process  lysosome organization  locomotory behavior  tissue development  membrane  carbohydrate binding  maltose alpha-glucosidase activity  azurophil granule membrane  vacuolar sequestering  lysosomal lumen  neutrophil degranulation  muscle cell cellular homeostasis  neuromuscular process controlling posture  neuromuscular process controlling balance  cardiac muscle contraction  extracellular exosome  tertiary granule membrane  ficolin-1-rich granule membrane  
Ontology : EGO-EBImaltose metabolic process  regulation of the force of heart contraction  diaphragm contraction  heart morphogenesis  alpha-1,4-glucosidase activity  alpha-1,4-glucosidase activity  oligo-1,6-glucosidase activity  lysosome  lysosomal membrane  plasma membrane  glycogen catabolic process  glycogen catabolic process  sucrose metabolic process  glucose metabolic process  lysosome organization  locomotory behavior  tissue development  membrane  carbohydrate binding  maltose alpha-glucosidase activity  azurophil granule membrane  vacuolar sequestering  lysosomal lumen  neutrophil degranulation  muscle cell cellular homeostasis  neuromuscular process controlling posture  neuromuscular process controlling balance  cardiac muscle contraction  extracellular exosome  tertiary granule membrane  ficolin-1-rich granule membrane  
Pathways : KEGGGalactose metabolism    Starch and sucrose metabolism    Lysosome   
NDEx NetworkGAA
Atlas of Cancer Signalling NetworkGAA
Wikipedia pathwaysGAA
Orthology - Evolution
OrthoDB2548
GeneTree (enSembl)ENSG00000171298
Phylogenetic Trees/Animal Genes : TreeFamGAA
HOVERGENP10253
HOGENOMP10253
Homologs : HomoloGeneGAA
Homology/Alignments : Family Browser (UCSC)GAA
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGAA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GAA
dbVarGAA
ClinVarGAA
1000_GenomesGAA 
Exome Variant ServerGAA
ExAC (Exome Aggregation Consortium)GAA (select the gene name)
Genetic variants : HAPMAP2548
Genomic Variants (DGV)GAA [DGVbeta]
DECIPHERGAA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGAA 
Mutations
ICGC Data PortalGAA 
TCGA Data PortalGAA 
Broad Tumor PortalGAA
OASIS PortalGAA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGAA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGAA
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch GAA
DgiDB (Drug Gene Interaction Database)GAA
DoCM (Curated mutations)GAA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GAA (select a term)
intoGenGAA
Cancer3DGAA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM232300    606800   
Orphanet21321    23106   
MedgenGAA
Genetic Testing Registry GAA
NextProtP10253 [Medical]
TSGene2548
GENETestsGAA
Target ValidationGAA
Huge Navigator GAA [HugePedia]
snp3D : Map Gene to Disease2548
BioCentury BCIQGAA
ClinGenGAA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2548
Chemical/Pharm GKB GenePA28476
Clinical trialGAA
Miscellaneous
canSAR (ICR)GAA (select the gene name)
Probes
Litterature
PubMed146 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGAA
EVEXGAA
GoPubMedGAA
iHOPGAA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:50:06 CEST 2017

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