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GLA (galactosidase alpha)

Identity

Alias_symbol (synonym)GALA
Other alias
HGNC (Hugo) GLA
LocusID (NCBI) 2717
Atlas_Id 56112
Location Xq22.1  [Link to chromosome band Xq22]
Location_base_pair Starts at 101397791 and ends at 101408013 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GLA (Xq22.1) / GLA (Xq22.1)GLA (Xq22.1) / HNRNPH2 (Xq22.1)

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)GLA   4296
LRG (Locus Reference Genomic)LRG_672
Cards
Entrez_Gene (NCBI)GLA  2717  galactosidase alpha
AliasesGALA
GeneCards (Weizmann)GLA
Ensembl hg19 (Hinxton)ENSG00000102393 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000102393 [Gene_View]  chrX:101397791-101408013 [Contig_View]  GLA [Vega]
ICGC DataPortalENSG00000102393
TCGA cBioPortalGLA
AceView (NCBI)GLA
Genatlas (Paris)GLA
WikiGenes2717
SOURCE (Princeton)GLA
Genetics Home Reference (NIH)GLA
Genomic and cartography
GoldenPath hg38 (UCSC)GLA  -     chrX:101397791-101408013 -  Xq22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GLA  -     Xq22.1   [Description]    (hg19-Feb_2009)
EnsemblGLA - Xq22.1 [CytoView hg19]  GLA - Xq22.1 [CytoView hg38]
Mapping of homologs : NCBIGLA [Mapview hg19]  GLA [Mapview hg38]
OMIM300644   301500   
Gene and transcription
Genbank (Entrez)AK222627 AK291095 AK297148 BC002689 BT006864
RefSeq transcript (Entrez)NM_000169
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GLA
Cluster EST : UnigeneHs.69089 [ NCBI ]
CGAP (NCI)Hs.69089
Alternative Splicing GalleryENSG00000102393
Gene ExpressionGLA [ NCBI-GEO ]   GLA [ EBI - ARRAY_EXPRESS ]   GLA [ SEEK ]   GLA [ MEM ]
Gene Expression Viewer (FireBrowse)GLA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2717
GTEX Portal (Tissue expression)GLA
Human Protein AtlasENSG00000102393-GLA [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP06280   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP06280  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP06280
Splice isoforms : SwissVarP06280
PhosPhoSitePlusP06280
Domaine pattern : Prosite (Expaxy)ALPHA_GALACTOSIDASE (PS00512)   
Domains : Interpro (EBI)Aldolase_TIM    Glyco_hydro_27    Glyco_hydro_27/36_CS    Glyco_hydro_b    Glycoside_hydrolase_SF   
Domain families : Pfam (Sanger)Melibiase_2 (PF16499)   
Domain families : Pfam (NCBI)pfam16499   
Conserved Domain (NCBI)GLA
DMDM Disease mutations2717
Blocks (Seattle)GLA
PDB (SRS)1R46    1R47    3GXN    3GXP    3GXT    3HG2    3HG3    3HG4    3HG5    3LX9    3LXA    3LXB    3LXC    3S5Y    3S5Z    3TV8    4NXS   
PDB (PDBSum)1R46    1R47    3GXN    3GXP    3GXT    3HG2    3HG3    3HG4    3HG5    3LX9    3LXA    3LXB    3LXC    3S5Y    3S5Z    3TV8    4NXS   
PDB (IMB)1R46    1R47    3GXN    3GXP    3GXT    3HG2    3HG3    3HG4    3HG5    3LX9    3LXA    3LXB    3LXC    3S5Y    3S5Z    3TV8    4NXS   
PDB (RSDB)1R46    1R47    3GXN    3GXP    3GXT    3HG2    3HG3    3HG4    3HG5    3LX9    3LXA    3LXB    3LXC    3S5Y    3S5Z    3TV8    4NXS   
Structural Biology KnowledgeBase1R46    1R47    3GXN    3GXP    3GXT    3HG2    3HG3    3HG4    3HG5    3LX9    3LXA    3LXB    3LXC    3S5Y    3S5Z    3TV8    4NXS   
SCOP (Structural Classification of Proteins)1R46    1R47    3GXN    3GXP    3GXT    3HG2    3HG3    3HG4    3HG5    3LX9    3LXA    3LXB    3LXC    3S5Y    3S5Z    3TV8    4NXS   
CATH (Classification of proteins structures)1R46    1R47    3GXN    3GXP    3GXT    3HG2    3HG3    3HG4    3HG5    3LX9    3LXA    3LXB    3LXC    3S5Y    3S5Z    3TV8    4NXS   
SuperfamilyP06280
Human Protein Atlas [tissue]ENSG00000102393-GLA [tissue]
Peptide AtlasP06280
HPRD02357
IPIIPI00025869   
Protein Interaction databases
DIP (DOE-UCLA)P06280
IntAct (EBI)P06280
FunCoupENSG00000102393
BioGRIDGLA
STRING (EMBL)GLA
ZODIACGLA
Ontologies - Pathways
QuickGOP06280
Ontology : AmiGOcatalytic activity  alpha-galactosidase activity  alpha-galactosidase activity  alpha-galactosidase activity  receptor binding  protein binding  extracellular region  extracellular region  extracellular region  cytoplasm  lysosome  lysosome  Golgi apparatus  glycosphingolipid metabolic process  oligosaccharide metabolic process  glycoside catabolic process  hydrolase activity  galactoside binding  azurophil granule lumen  protein homodimerization activity  lysosomal lumen  neutrophil degranulation  negative regulation of nitric oxide biosynthetic process  glycosylceramide catabolic process  glycosphingolipid catabolic process  negative regulation of nitric-oxide synthase activity  raffinose alpha-galactosidase activity  extracellular exosome  
Ontology : EGO-EBIcatalytic activity  alpha-galactosidase activity  alpha-galactosidase activity  alpha-galactosidase activity  receptor binding  protein binding  extracellular region  extracellular region  extracellular region  cytoplasm  lysosome  lysosome  Golgi apparatus  glycosphingolipid metabolic process  oligosaccharide metabolic process  glycoside catabolic process  hydrolase activity  galactoside binding  azurophil granule lumen  protein homodimerization activity  lysosomal lumen  neutrophil degranulation  negative regulation of nitric oxide biosynthetic process  glycosylceramide catabolic process  glycosphingolipid catabolic process  negative regulation of nitric-oxide synthase activity  raffinose alpha-galactosidase activity  extracellular exosome  
Pathways : KEGGGalactose metabolism    Glycerolipid metabolism    Sphingolipid metabolism    Glycosphingolipid biosynthesis - globo series    Lysosome   
NDEx NetworkGLA
Atlas of Cancer Signalling NetworkGLA
Wikipedia pathwaysGLA
Orthology - Evolution
OrthoDB2717
GeneTree (enSembl)ENSG00000102393
Phylogenetic Trees/Animal Genes : TreeFamGLA
HOVERGENP06280
HOGENOMP06280
Homologs : HomoloGeneGLA
Homology/Alignments : Family Browser (UCSC)GLA
Gene fusions - Rearrangements
Tumor Fusion PortalGLA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGLA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GLA
dbVarGLA
ClinVarGLA
1000_GenomesGLA 
Exome Variant ServerGLA
ExAC (Exome Aggregation Consortium)ENSG00000102393
GNOMAD BrowserENSG00000102393
Genetic variants : HAPMAP2717
Genomic Variants (DGV)GLA [DGVbeta]
DECIPHERGLA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGLA 
Mutations
ICGC Data PortalGLA 
TCGA Data PortalGLA 
Broad Tumor PortalGLA
OASIS PortalGLA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGLA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGLA
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)X-chromosome gene database
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
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 GLA
DgiDB (Drug Gene Interaction Database)GLA
DoCM (Curated mutations)GLA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GLA (select a term)
intoGenGLA
Cancer3DGLA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300644    301500   
Orphanet94   
DisGeNETGLA
MedgenGLA
Genetic Testing Registry GLA
NextProtP06280 [Medical]
TSGene2717
GENETestsGLA
Target ValidationGLA
Huge Navigator GLA [HugePedia]
snp3D : Map Gene to Disease2717
BioCentury BCIQGLA
ClinGenGLA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2717
Chemical/Pharm GKB GenePA28707
Clinical trialGLA
Miscellaneous
canSAR (ICR)GLA (select the gene name)
Probes
Litterature
PubMed171 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGLA
EVEXGLA
GoPubMedGLA
iHOPGLA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:14:40 CET 2017

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