Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol GBA contributors: mct/npt/shn - updated : 23-10-2013
HGNC name glucosidase, beta, acid
HGNC id 4177
Corresponding disease
GBA1 Gaucher disease, types I
GBA2 Gaucher disease, types II
GBA3 Gaucher disease, types III
PARK20 Parkinson disease 20, early-onset
Location 1q22      Physical location : 155.204.239 - 155.214.653
Synonym name
  • D-glucosyl-N-acylsphingosine glucohydrolase
  • acid beta-glucosidase
  • alglucerase; beta-glucocerebrosidase
  • glucosylceramidase
  • imiglucerase
  • lysosomal glucocerebrosidase
  • Synonym symbol(s) GLUC, GCB, GBA1
    EC.number 3.2.1.45
    DNA
    TYPE functioning gene
    STRUCTURE 10.42 kb     12 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    text structure TATA boxes lie between nucleotides (-23)-(-27) and (-33)-(-39) and the two possible CAT boxes reside between nucleotides (-90)-(-94) and (-96)-(-99) in relation to the major 5' end of the mRNA
    MAPPING cloned Y linked Y status confirmed
    Map cen - D1S305 - D1S2714 - GBAP - D1S1153 - D1S2777 - qter
    Authors Cormand (97)
    Text [LDB ]
    Physical map
    PBXIP1 1q22 pre-B-cell leukemia transcription factor interacting protein 1 PYGO2 1q22 pygopus 2 SHC1 1q21 SHC (Src homology 2 domain containing) transforming protein 1 CKS1B 1q21.2 CDC28 protein kinase regulatory subunit 1B PP591 1q22 FAD-synthetase LENEP 1q22 lens epithelial protein ZFP67 1q21.2 zinc finger protein 67 homolog (mouse) FLJ32934 1q22 hypothetical protein FLJ32934 FLJ32785 1q22 hypothetical protein FLJ32785 ADAM15 1q21.3 a disintegrin and metalloproteinase domain 15 (metargidin) EFNA4 1q21-q22 ephrin-A4 EFNA3 1q21-q22 ephrin-A3 EFNA1 1q21-q22 ephrin-A1 LOC55974 1q22 stromal cell protein DPM3 1q21.2 dolichyl-phosphate mannosyltransferase polypeptide 3 KCP2 TRIM46 1q21-22 tripartite motif-containing 46 MUC1 1q21 mucin 1, transmembrane THBS3 1q21-q23 thrombospondin 3 MTX1 1q21 metaxin 1 LOC388704 1 similar to GBA protein MTX1P 1q21 metaxin 1 pseudogene GBA 1q21 glucosidase, beta; acid (includes glucosylceramidase) C1orf2 1q21 chromosome 1 open reading frame 2 SCAMP3 1q21 secretory carrier membrane protein 3 CLK2 1q21 CDC-like kinase 2 HCN3 1q22 hyperpolarization activated cyclic nucleotide-gated potassium channel 3 PKLR 1q21 pyruvate kinase, liver and RBC FDPS 1q21.2 farnesyl diphosphate synthase (farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase) FLJ35976 1q22 hypothetical protein FLJ35976 RUSC1 1q21-q22 RUN and SH3 domain containing 1 ASH1L 1q21 ash1 (absent, small, or homeotic)-like (Drosophila)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2400 - 449 - -
    11 splicing 2324 59 536 - Clark (2009)
  • containing exon 3a (longer than 3b & 3c)
  • lacking exons 1 & 2
  • 12 splicing 2432 59 536 - Clark (2009)
  • containing exon 3b
  • lacking exon 2
  • 12 splicing 2413 59 536 - Clark (2009)
  • a 12 exons variant
  • containing exon 3c (shorter than 3a & 3b)
  • lacking exon 2
  • 10 splicing 2174 - 487 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   highly
    Digestiveesophagus   highly
     liver   lowly
     stomach   moderately
    Endocrinethyroid   moderately
    Lymphoid/Immunespleen   highly
    Nervousbrain   highly
    Reproductivefemale systemplacenta  highly
     female systembreastmammary gland moderately
    Respiratoryrespiratory tracttrachea  moderately
    Skin/Tegumentskin   highly
    Urinarybladder   moderately
     kidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  moderately
    Connectivebone  moderately
    Nervouscentral  moderately
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmonocyte
    Lymphoid/Immunemacrophage
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to Gba, Mus musculus
    ortholog to Gba, Rattus norvegicus
    ortholog to gba, danio rerio
    Homologene
    FAMILY
  • glycosyl hydrolase 30 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text lysosomal membrane protein
    basic FUNCTION
  • glucosidase
  • glucocerebrosidase
  • penultimate intermediate in the degradative pathway of complex glycolipids
  • hydrolyzing glucosylceramide
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    sphingolipid metabolism
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • parkin and mutant glucocerebrosidas
  • TCP1 ring complex, TRiC and c-Cbl
  • Alpha-synuclein
  • Hsp70 and Hsp90
  • cell & other
    REGULATION
    Other targeted to the lysosome by M6P receptor mediated pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) GBA1 , GBA2 , GBA3 , PARK20
    related resource Gaucher Disease at GeneDis
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    GBA mutations may be associated with pathologically "purer" Lewy Body disorders, characterized by more extensive (cortical) LB, and less severe AD pathological findings and may be a useful marker for LB disorders
    Susceptibility to Parkinson disease
    Variant & Polymorphism other strong association between GBA mutations and Parkinson disease (Sidransky 2009)
    Candidate gene
  • GBA mutations may be associated with pathologically "purer" Lewy body (LB) disorders, characterized by more extensive (cortical) LB, and less severe Alzheimer disease pathological findings and may be a useful marker for LB disorders (Clark 2009)
  • Marker
    Therapy target
  • potent therapeutic potential of HDAC inhibitors as SAHA and LB-205 molecules for the treatment of Gaucher disease
  • ANIMAL & CELL MODELS
  • a natural canine model of Gaucher disease mice homozygous for the RecNciI mutation had little GC enzyme activity and accumulated glucosylceramide in brain and liver, mice homozygous for the L444P mutation had higher levels of GC activity and no detectable accumulation of glucosylceramide in brain and liver, both point mutation mice died within 48 hr of birth
  • mouse with strong reduction in GCase activity in all tissues except the skin exhibit rapid motor dysfunction associated with severe neurodegeneration and apoptotic cell death within the brain