Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GBA3 (glucosylceramidase beta 3 (gene/pseudogene))

Identity

Alias_namesglucosidase, beta, acid 3 (cytosolic)
glucosidase, beta, acid 3 (gene/pseudogene)
Alias_symbol (synonym)GLUC
KLrP
Other aliasCBG
CBGL1
KLRP
HGNC (Hugo) GBA3
LocusID (NCBI) 57733
Atlas_Id 63720
Location 4p15.2  [Link to chromosome band 4p15]
Location_base_pair Starts at 22692914 and ends at 22819572 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)

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)GBA3   19069
Cards
Entrez_Gene (NCBI)GBA3  57733  glucosylceramidase beta 3 (gene/pseudogene)
AliasesCBG; CBGL1; GLUC; KLRP
GeneCards (Weizmann)GBA3
Ensembl hg19 (Hinxton)ENSG00000249948 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000249948 [Gene_View]  ENSG00000249948 [Sequence]  chr4:22692914-22819572 [Contig_View]  GBA3 [Vega]
ICGC DataPortalENSG00000249948
TCGA cBioPortalGBA3
AceView (NCBI)GBA3
Genatlas (Paris)GBA3
WikiGenes57733
SOURCE (Princeton)GBA3
Genetics Home Reference (NIH)GBA3
Genomic and cartography
GoldenPath hg38 (UCSC)GBA3  -     chr4:22692914-22819572 +  4p15.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GBA3  -     4p15.2   [Description]    (hg19-Feb_2009)
GoldenPathGBA3 - 4p15.2 [CytoView hg19]  GBA3 - 4p15.2 [CytoView hg38]
ImmunoBaseENSG00000249948
Mapping of homologs : NCBIGBA3 [Mapview hg19]  GBA3 [Mapview hg38]
OMIM606619   
Gene and transcription
Genbank (Entrez)AB017913 AF317840 AF323990 AJ278964 AK222963
RefSeq transcript (Entrez)NM_001128432 NM_001277225 NM_020973
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GBA3
Cluster EST : UnigeneHs.653107 [ NCBI ]
CGAP (NCI)Hs.653107
Alternative Splicing GalleryENSG00000249948
Gene ExpressionGBA3 [ NCBI-GEO ]   GBA3 [ EBI - ARRAY_EXPRESS ]   GBA3 [ SEEK ]   GBA3 [ MEM ]
Gene Expression Viewer (FireBrowse)GBA3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57733
GTEX Portal (Tissue expression)GBA3
Human Protein AtlasENSG00000249948-GBA3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H227   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H227  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H227
Splice isoforms : SwissVarQ9H227
Catalytic activity : Enzyme3.2.1.21 [ Enzyme-Expasy ]   3.2.1.213.2.1.21 [ IntEnz-EBI ]   3.2.1.21 [ BRENDA ]   3.2.1.21 [ KEGG ]   
PhosPhoSitePlusQ9H227
Domaine pattern : Prosite (Expaxy)GLYCOSYL_HYDROL_F1_2 (PS00653)   
Domains : Interpro (EBI)Glyco_hydro_1    Glyco_hydro_1_N_CS    Glycoside_hydrolase_SF   
Domain families : Pfam (Sanger)Glyco_hydro_1 (PF00232)   
Domain families : Pfam (NCBI)pfam00232   
Conserved Domain (NCBI)GBA3
DMDM Disease mutations57733
Blocks (Seattle)GBA3
PDB (RSDB)2E9L    2E9M    2JFE    2ZOX    3VKK   
PDB Europe2E9L    2E9M    2JFE    2ZOX    3VKK   
PDB (PDBSum)2E9L    2E9M    2JFE    2ZOX    3VKK   
PDB (IMB)2E9L    2E9M    2JFE    2ZOX    3VKK   
Structural Biology KnowledgeBase2E9L    2E9M    2JFE    2ZOX    3VKK   
SCOP (Structural Classification of Proteins)2E9L    2E9M    2JFE    2ZOX    3VKK   
CATH (Classification of proteins structures)2E9L    2E9M    2JFE    2ZOX    3VKK   
SuperfamilyQ9H227
Human Protein Atlas [tissue]ENSG00000249948-GBA3 [tissue]
Peptide AtlasQ9H227
HPRD09428
IPIIPI00651709   IPI00300622   
Protein Interaction databases
DIP (DOE-UCLA)Q9H227
IntAct (EBI)Q9H227
FunCoupENSG00000249948
BioGRIDGBA3
STRING (EMBL)GBA3
ZODIACGBA3
Ontologies - Pathways
QuickGOQ9H227
Ontology : AmiGOgalactosylceramidase activity  glucosylceramidase activity  glucosylceramidase activity  beta-galactosidase activity  beta-galactosidase activity  protein binding  cytosol  cytosol  cytosol  glucosylceramide catabolic process  glucosylceramide catabolic process  glucosylceramide catabolic process  galactosylceramide catabolic process  glycosphingolipid metabolic process  beta-glucosidase activity  beta-glucosidase activity  glycoside catabolic process  glycosylceramidase activity  glycosylceramidase activity  protein stabilization  cellular oligosaccharide catabolic process  scopolin beta-glucosidase activity  beta-glucoside catabolic process  catalytic complex  positive regulation of exo-alpha-sialidase activity  
Ontology : EGO-EBIgalactosylceramidase activity  glucosylceramidase activity  glucosylceramidase activity  beta-galactosidase activity  beta-galactosidase activity  protein binding  cytosol  cytosol  cytosol  glucosylceramide catabolic process  glucosylceramide catabolic process  glucosylceramide catabolic process  galactosylceramide catabolic process  glycosphingolipid metabolic process  beta-glucosidase activity  beta-glucosidase activity  glycoside catabolic process  glycosylceramidase activity  glycosylceramidase activity  protein stabilization  cellular oligosaccharide catabolic process  scopolin beta-glucosidase activity  beta-glucoside catabolic process  catalytic complex  positive regulation of exo-alpha-sialidase activity  
Pathways : KEGGStilbene, coumarine and lignin biosynthesis    Cyanoamino acid metabolism    Starch and sucrose metabolism   
NDEx NetworkGBA3
Atlas of Cancer Signalling NetworkGBA3
Wikipedia pathwaysGBA3
Orthology - Evolution
OrthoDB57733
GeneTree (enSembl)ENSG00000249948
Phylogenetic Trees/Animal Genes : TreeFamGBA3
HOGENOMQ9H227
Homologs : HomoloGeneGBA3
Homology/Alignments : Family Browser (UCSC)GBA3
Gene fusions - Rearrangements
Fusion : QuiverGBA3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGBA3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GBA3
dbVarGBA3
ClinVarGBA3
1000_GenomesGBA3 
Exome Variant ServerGBA3
ExAC (Exome Aggregation Consortium)ENSG00000249948
GNOMAD BrowserENSG00000249948
Varsome BrowserGBA3
Genetic variants : HAPMAP57733
Genomic Variants (DGV)GBA3 [DGVbeta]
DECIPHERGBA3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGBA3 
Mutations
ICGC Data PortalGBA3 
TCGA Data PortalGBA3 
Broad Tumor PortalGBA3
OASIS PortalGBA3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGBA3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGBA3
Mutations and Diseases : HGMDGBA3
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
BioMutasearch GBA3
DgiDB (Drug Gene Interaction Database)GBA3
DoCM (Curated mutations)GBA3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GBA3 (select a term)
intoGenGBA3
Cancer3DGBA3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606619   
Orphanet
DisGeNETGBA3
MedgenGBA3
Genetic Testing Registry GBA3
NextProtQ9H227 [Medical]
TSGene57733
GENETestsGBA3
Target ValidationGBA3
Huge Navigator GBA3 [HugePedia]
snp3D : Map Gene to Disease57733
BioCentury BCIQGBA3
ClinGenGBA3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57733
Chemical/Pharm GKB GenePA134861643
Clinical trialGBA3
Miscellaneous
canSAR (ICR)GBA3 (select the gene name)
DataMed IndexGBA3
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGBA3
EVEXGBA3
GoPubMedGBA3
iHOPGBA3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Sep 3 15:29:30 CEST 2019
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