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GBA (glucosidase, beta, acid)

Identity

Other namesGBA1
GCB
GLUC
HGNC (Hugo) GBA
LocusID (NCBI) 2629
Location 1q22
Location_base_pair Starts at 155204239 and ends at 155211069 bp from pter ( according to hg19-Feb_2009)
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)GBA   4177
Cards
Entrez_Gene (NCBI)GBA  2629  glucosidase, beta, acid
GeneCards (Weizmann)GBA
Ensembl (Hinxton)ENSG00000177628 [Gene_View]  chr1:155204239-155211069 [Contig_View]  GBA [Vega]
ICGC DataPortalENSG00000177628
AceView (NCBI)GBA
Genatlas (Paris)GBA
WikiGenes2629
SOURCE (Princeton)NM_000157 NM_001005741 NM_001005742 NM_001005749 NM_001005750 NM_001171811 NM_001171812
Genomic and cartography
GoldenPath (UCSC)GBA  -  1q22   chr1:155204239-155211069 -  1q22   [Description]    (hg19-Feb_2009)
EnsemblGBA - 1q22 [CytoView]
Mapping of homologs : NCBIGBA [Mapview]
OMIM127750   168600   230800   230900   231000   231005   606463   608013   
Gene and transcription
Genbank (Entrez)AK291911 AK298900 AK300186 AK300829 AK300876
RefSeq transcript (Entrez)NM_000157 NM_001005741 NM_001005742 NM_001005749 NM_001005750 NM_001171811 NM_001171812
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_009783 NT_004487 NW_001838531 NW_003315906 NW_004929293
Consensus coding sequences : CCDS (NCBI)GBA
Cluster EST : UnigeneHs.282997 [ NCBI ]
CGAP (NCI)Hs.282997
Alternative Splicing : Fast-db (Paris)GSHG0002583
Alternative Splicing GalleryENSG00000177628
Gene ExpressionGBA [ NCBI-GEO ]     GBA [ SEEK ]   GBA [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP04062 (Uniprot)
NextProtP04062  [Medical]
With graphics : InterProP04062
Splice isoforms : SwissVarP04062 (Swissvar)
Catalytic activity : Enzyme3.2.1.45 [ Enzyme-Expasy ]   3.2.1.453.2.1.45 [ IntEnz-EBI ]   3.2.1.45 [ BRENDA ]   3.2.1.45 [ KEGG ]   
Domains : Interpro (EBI)Glyco_hydro_13_b    Glyco_hydro_30    Glyco_hydro_catalytic_dom    Glycoside_hydrolase_SF   
Related proteins : CluSTrP04062
Domain families : Pfam (Sanger)Glyco_hydro_30 (PF02055)   
Domain families : Pfam (NCBI)pfam02055   
DMDM Disease mutations2629
Blocks (Seattle)P04062
PDB (SRS)1OGS    1Y7V    2F61    2J25    2NSX    2NT0    2NT1    2V3D    2V3E    2V3F    2VT0    2WCG    2WKL    2XWD    2XWE    3GXD    3GXF    3GXI    3GXM    3KE0    3KEH    3RIK    3RIL   
PDB (PDBSum)1OGS    1Y7V    2F61    2J25    2NSX    2NT0    2NT1    2V3D    2V3E    2V3F    2VT0    2WCG    2WKL    2XWD    2XWE    3GXD    3GXF    3GXI    3GXM    3KE0    3KEH    3RIK    3RIL   
PDB (IMB)1OGS    1Y7V    2F61    2J25    2NSX    2NT0    2NT1    2V3D    2V3E    2V3F    2VT0    2WCG    2WKL    2XWD    2XWE    3GXD    3GXF    3GXI    3GXM    3KE0    3KEH    3RIK    3RIL   
PDB (RSDB)1OGS    1Y7V    2F61    2J25    2NSX    2NT0    2NT1    2V3D    2V3E    2V3F    2VT0    2WCG    2WKL    2XWD    2XWE    3GXD    3GXF    3GXI    3GXM    3KE0    3KEH    3RIK    3RIL   
Human Protein AtlasENSG00000177628
Peptide AtlasP04062
HPRD06973
IPIIPI00759616   IPI00021807   IPI00845473   IPI00940598   IPI01012416   IPI01011948   IPI00955453   
Protein Interaction databases
DIP (DOE-UCLA)P04062
IntAct (EBI)P04062
FunCoupENSG00000177628
BioGRIDGBA
InParanoidP04062
Interologous Interaction database P04062
IntegromeDBGBA
STRING (EMBL)GBA
Ontologies - Pathways
Ontology : AmiGOglucosylceramidase activity  receptor binding  protein binding  lysosomal membrane  lysosomal membrane  lysosomal membrane  carbohydrate metabolic process  sphingolipid metabolic process  glucosylceramide catabolic process  glycosphingolipid metabolic process  cell death  response to pH  termination of signal transduction  negative regulation of interleukin-6 production  regulation of water loss via skin  response to testosterone  positive regulation of protein dephosphorylation  lysosomal lumen  negative regulation of MAP kinase activity  skin morphogenesis  response to estrogen  small molecule metabolic process  sphingosine biosynthetic process  ceramide biosynthetic process  negative regulation of inflammatory response  response to glucocorticoid  extracellular vesicular exosome  cellular response to tumor necrosis factor  response to thyroid hormone  
Ontology : EGO-EBIglucosylceramidase activity  receptor binding  protein binding  lysosomal membrane  lysosomal membrane  lysosomal membrane  carbohydrate metabolic process  sphingolipid metabolic process  glucosylceramide catabolic process  glycosphingolipid metabolic process  cell death  response to pH  termination of signal transduction  negative regulation of interleukin-6 production  regulation of water loss via skin  response to testosterone  positive regulation of protein dephosphorylation  lysosomal lumen  negative regulation of MAP kinase activity  skin morphogenesis  response to estrogen  small molecule metabolic process  sphingosine biosynthetic process  ceramide biosynthetic process  negative regulation of inflammatory response  response to glucocorticoid  extracellular vesicular exosome  cellular response to tumor necrosis factor  response to thyroid hormone  
Pathways : KEGGOther glycan degradation    Sphingolipid metabolism    Lysosome   
Protein Interaction DatabaseGBA
Wikipedia pathwaysGBA
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)GBA
SNP (GeneSNP Utah)GBA
SNP : HGBaseGBA
Genetic variants : HAPMAPGBA
1000_GenomesGBA 
ICGC programENSG00000177628 
CONAN: Copy Number AnalysisGBA 
Somatic Mutations in Cancer : COSMICGBA 
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)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
Mutations and Diseases : HGMDGBA
OMIM127750    168600    230800    230900    231000    231005    606463    608013   
MedgenGBA
GENETestsGBA
Disease Genetic AssociationGBA
Huge Navigator GBA [HugePedia]  GBA [HugeCancerGEM]
Genomic VariantsGBA  GBA [DGVbeta]
Exome VariantGBA
dbVarGBA
ClinVarGBA
snp3D : Map Gene to Disease2629
General knowledge
Homologs : HomoloGeneGBA
Homology/Alignments : Family Browser (UCSC)GBA
Phylogenetic Trees/Animal Genes : TreeFamGBA
Chemical/Protein Interactions : CTD2629
Chemical/Pharm GKB GenePA28591
Clinical trialGBA
Cancer Resource (Charite)ENSG00000177628
Other databases
Probes
Litterature
PubMed262 Pubmed reference(s) in Entrez
CoreMineGBA
iHOPGBA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 13 12:47:54 CEST 2014

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