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Aliases for GBA Gene

Aliases for GBA Gene

  • Glucosidase, Beta, Acid 2 3
  • D-Glucosyl-N-Acylsphingosine Glucohydrolase 3 4
  • Beta-Glucocerebrosidase 3 4
  • Acid Beta-Glucosidase 3 4
  • Glucosylceramidase 2 3
  • Imiglucerase 3 4
  • Alglucerase 3 4
  • EC 3.2.1.45 4 64
  • Beta-GC 3 4
  • GLUC 3 4
  • Glucosidase, Beta; Acid (Includes Glucosylceramidase) 2
  • Glucosylceramidase-Like Protein 3
  • Lysosomal Glucocerebrosidase 3
  • GBA1 3
  • GCB 3
  • GC 4

External Ids for GBA Gene

Previous Symbols for GBA Gene

  • GLUC

Summaries for GBA Gene

Entrez Gene Summary for GBA Gene

  • This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]

GeneCards Summary for GBA Gene

GBA (Glucosidase, Beta, Acid) is a Protein Coding gene. Diseases associated with GBA include gaucher disease, perinatal lethal and gaucher disease, type ii. Among its related pathways are Sphingolipid metabolism and Sphingolipid metabolism. GO annotations related to this gene include receptor binding and glucosylceramidase activity.

Tocris Summary for GBA Gene

  • Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, alpha- and beta-glucosidase (EC numbers 3.2.1.20 and 3.2.1.21 respectively), which are both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose respectively.

Gene Wiki entry for GBA Gene

No data available for UniProtKB/Swiss-Prot , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GBA Gene

Genomics for GBA Gene

Genomic Location for GBA Gene

Start:
155,234,448 bp from pter
End:
155,244,862 bp from pter
Size:
10,415 bases
Orientation:
Minus strand

Genomic View for GBA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GBA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GBA Gene

Regulatory Elements for GBA Gene

Proteins for GBA Gene

  • Protein details for GBA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04062-GLCM_HUMAN
    Recommended name:
    Glucosylceramidase
    Protein Accession:
    P04062
    Secondary Accessions:
    • A8K796
    • B7Z5G2
    • B7Z6S1
    • J3KQG4
    • J3KQK9
    • Q16545
    • Q4VX22
    • Q6I9R6
    • Q9UMJ8

    Protein attributes for GBA Gene

    Size:
    536 amino acids
    Molecular mass:
    59716 Da
    Quaternary structure:
    • Interacts with saposin-C. Interacts with SCARB2.

    Three dimensional structures from OCA and Proteopedia for GBA Gene

    Alternative splice isoforms for GBA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GBA Gene

Proteomics data for GBA Gene at MOPED

Post-translational modifications for GBA Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn58, Asn98, Asn185, Asn309, and Asn501

Other Protein References for GBA Gene

Domains for GBA Gene

UniProtKB/Swiss-Prot:

GLCM_HUMAN
Family:
  • Belongs to the glycosyl hydrolase 30 family.:
    • P04062
genes like me logo Genes that share domains with GBA: view

No data available for Gene Families for GBA Gene

Function for GBA Gene

Molecular function for GBA Gene

GENATLAS Biochemistry: glucosidase,beta,acid,55.6kDa,lysosomal hydrolyzing glucosylceramide,penultimate intermediate in the degradative pathway of complex glycolipids
UniProtKB/Swiss-Prot CatalyticActivity: D-glucosyl-N-acylsphingosine + H(2)O = D-glucose + N-acylsphingosine
UniProtKB/Swiss-Prot EnzymeRegulation: Requires saposin-C and anionic phospholipids for activity

Enzyme Numbers (IUBMB) for GBA Gene

Gene Ontology (GO) - Molecular Function for GBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004348 glucosylceramidase activity IMP 21700325
GO:0005102 receptor binding ISS 18022370
GO:0005515 protein binding IPI 24162852
genes like me logo Genes that share ontologies with GBA: view
genes like me logo Genes that share phenotypes with GBA: view

Animal Models for GBA Gene

MGI Knock Outs for GBA:

miRNA for GBA Gene

miRTarBase miRNAs that target GBA

No data available for Transcription Factor Targeting and HOMER Transcription for GBA Gene

Localization for GBA Gene

Subcellular locations from UniProtKB/Swiss-Prot for GBA Gene

Lysosome membrane; Peripheral membrane protein; Lumenal side. Note=Interaction with saposin-C promotes membrane association. Targeting to lysosomes occurs through an alternative MPR-independent mechanism via SCARB2.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GBA Gene COMPARTMENTS Subcellular localization image for GBA gene
Compartment Confidence
lysosome 5
vacuole 5
endoplasmic reticulum 2
extracellular 2
endosome 1
golgi apparatus 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for GBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane TAS --
GO:0043202 lysosomal lumen ISS 18022370
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with GBA: view

Pathways for GBA Gene

genes like me logo Genes that share pathways with GBA: view

Gene Ontology (GO) - Biological Process for GBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006665 sphingolipid metabolic process TAS --
GO:0006680 glucosylceramide catabolic process IMP 19279011
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0008219 cell death --
genes like me logo Genes that share ontologies with GBA: view

Compounds for GBA Gene

UniProtKB/Swiss-Prot:

P04062-GLCM_HUMAN
Pharmaceutical: Available under the names Ceredase and Cerezyme (Genzyme). Used to treat Gauchers disease

(5) Tocris Compounds for GBA Gene

Compound Action Cas Number
1-Deoxymannojirimycin hydrochloride alpha-Mannosidase I inhibitor [73465-43-7]
1-Deoxynojirimycin Glucosidase I and II inhibitor [19130-96-2]
Kifunensine Inhibitor of class I alpha-mannosidases [109944-15-2]
Miglitol alpha-glucosidase inhibitor [72432-03-2]
OGT 2115 Antiangiogenic. Heparanase inhibitor [853929-59-6]

(115) HMDB Compounds for GBA Gene

Compound Synonyms Cas Number PubMed IDs
1,4-beta-D-Glucan
Not Available
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • Sulfatide (d18:1/12:0)
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • Sulfatide (d18:1/14:0)
Not Available
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • Sulfatide (d18:1/16:0)
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • Sulfatide (d18:1/18:0)
244215-65-4

(4) Drugbank Compounds for GBA Gene

(46) Novoseek inferred chemical compound relationships for GBA Gene

Compound -log(P) Hits PubMed IDs
glucosylceramide 93.4 70
conduritol b epoxide 89.1 5
glucosyl sphingosine 87.9 8
miglustat 84 22
brcbe 77.6 1

(1) PharmGKB related drug/compound annotations for GBA Gene

Drug/compound Annotation
velaglucerase alfa
genes like me logo Genes that share compounds with GBA: view

Transcripts for GBA Gene

Unigene Clusters for GBA Gene

Glucosidase, beta, acid:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GBA Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - - - - - - -
SP6: - - - - -
SP7: - - - - - -
SP8: - - -
SP9: - - - -
SP10: - -
SP11: - -
SP12:
SP13: - -
SP14:

Relevant External Links for GBA Gene

GeneLoc Exon Structure for
GBA
ECgene alternative splicing isoforms for
GBA

Expression for GBA Gene

mRNA expression in normal human tissues for GBA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GBA Gene

This gene is overexpressed in Whole Blood (6.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GBA Gene

SOURCE GeneReport for Unigene cluster for GBA Gene Hs.282997

genes like me logo Genes that share expressions with GBA: view

Orthologs for GBA Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GBA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GBA 36
  • 99.5 (n)
  • 99.44 (a)
GBA 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GBA 36
  • 87.87 (n)
  • 89.18 (a)
GBA 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GBA 36
  • 88.74 (n)
  • 90.49 (a)
GBA 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gba 36
  • 84.08 (n)
  • 86.6 (a)
Gba 16
Gba 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GBA 37
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gba 36
  • 85.11 (n)
  • 87.77 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 55 (a)
OneToMany
-- 37
  • 58 (a)
OneToMany
-- 37
  • 58 (a)
OneToMany
LOC101748171 36
  • 69.22 (n)
  • 68.31 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 51 (a)
OneToMany
-- 37
  • 53 (a)
OneToMany
-- 37
  • 54 (a)
OneToMany
-- 37
  • 61 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.29001 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9605 36
zebrafish
(Danio rerio)
Actinopterygii gba 36
  • 61.54 (n)
  • 57.69 (a)
gba 37
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG31148 37
  • 31 (a)
OneToMany
CG31414 37
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gba-1 37
  • 36 (a)
OneToMany
gba-2 37
  • 35 (a)
OneToMany
gba-3 37
  • 41 (a)
OneToMany
gba-4 36
  • 48.72 (n)
  • 44.15 (a)
gba-4 37
  • 41 (a)
OneToMany
Y4C6B.6 38
  • 42 (a)
C33C12.3 38
  • 40 (a)
C33C12.8 38
  • 38 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04395 36
  • 42.7 (n)
  • 27.6 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.912 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 47 (a)
OneToOne
Species with no ortholog for GBA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GBA Gene

ENSEMBL:
Gene Tree for GBA (if available)
TreeFam:
Gene Tree for GBA (if available)

Paralogs for GBA Gene

Pseudogenes.org Pseudogenes for GBA Gene

genes like me logo Genes that share paralogs with GBA: view

No data available for Paralogs for GBA Gene

Variants for GBA Gene

Sequence variations from dbSNP and Humsavar for GBA Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs364897 Pathogenic, Gaucher disease (GD) 155,238,215(-) GACCA(A/G)TGGAG reference, missense
rs368060 Pathogenic, Gaucher disease (GD) 155,235,217(+) AACAG(C/G)AGAGC missense, reference
rs381418 Uncertain significance, Gaucher disease (GD) 155,238,214(-) ACCAA(G/T)GGAGC missense, reference
rs381427 Gaucher disease 1 (GD1) 155,238,206(+) AGCGG(A/G/T)GAATG missense, reference
rs381737 Pathogenic, Gaucher disease (GD) 155,238,141(-) GATAC(A/T)TTGTG missense, reference

Structural Variations from Database of Genomic Variants (DGV) for GBA Gene

Variant ID Type Subtype PubMed ID
dgv3n68 CNV Loss 17160897
dgv132e1 CNV Complex 17122850
nsv470741 CNV Loss 18288195
nsv872457 CNV Loss 21882294
esv28935 CNV Gain 19812545
nsv8469 CNV Gain 18304495
esv2421617 CNV Duplication 20811451
nsv436038 CNV Insertion 17901297
nsv2999 CNV Insertion 18451855
nsv8480 CNV Gain 18304495

Relevant External Links for GBA Gene

HapMap Linkage Disequilibrium report
GBA
Human Gene Mutation Database (HGMD)
GBA
Locus Specific Mutation Databases (LSDB)
GBA

Disorders for GBA Gene

(7) OMIM Diseases for GBA Gene (606463)

UniProtKB/Swiss-Prot

GLCM_HUMAN
  • Gaucher disease (GD) [MIM:230800]: A lysosomal storage disease due to deficient activity of beta-glucocerebrosidase and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. Different clinical forms are recognized depending on the presence (neuronopathic forms) or absence of central nervous system involvement, severity and age of onset. {ECO:0000269 PubMed:10352942, ECO:0000269 PubMed:10360404, ECO:0000269 PubMed:10447266, ECO:0000269 PubMed:10744424, ECO:0000269 PubMed:10796875, ECO:0000269 PubMed:11933202, ECO:0000269 PubMed:11992489, ECO:0000269 PubMed:12204005, ECO:0000269 PubMed:15292921, ECO:0000269 PubMed:1972019, ECO:0000269 PubMed:1974409, ECO:0000269 PubMed:7627184, ECO:0000269 PubMed:7627192, ECO:0000269 PubMed:7916532, ECO:0000269 PubMed:8076951, ECO:0000269 PubMed:8112750, ECO:0000269 PubMed:8294033, ECO:0000269 PubMed:8432537, ECO:0000269 PubMed:8790604, ECO:0000269 PubMed:8829654, ECO:0000269 PubMed:8829663, ECO:0000269 PubMed:8937765, ECO:0000269 PubMed:9061570, ECO:0000269 PubMed:9153297, ECO:0000269 PubMed:9182788, ECO:0000269 PubMed:9217217, ECO:0000269 PubMed:9279145, ECO:0000269 PubMed:9516376, ECO:0000269 PubMed:9554454, ECO:0000269 PubMed:9554746, ECO:0000269 PubMed:9650766, ECO:0000269 PubMed:9683600}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Gaucher disease 1 (GD1) [MIM:230800]: A form of Gaucher disease characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved. {ECO:0000269 PubMed:10206680, ECO:0000269 PubMed:10340647, ECO:0000269 PubMed:15605411, ECO:0000269 PubMed:8889591, ECO:0000269 Ref.14}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Gaucher disease 2 (GD2) [MIM:230900]: The most severe form of Gaucher disease. It manifests soon after birth, with death generally occurring before patients reach two years of age. {ECO:0000269 PubMed:9637431, ECO:0000269 PubMed:9851895}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Gaucher disease 3 (GD3) [MIM:231000]: A subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease 2. {ECO:0000269 PubMed:8780099}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Gaucher disease 3C (GD3C) [MIM:231005]: A variant of subacute neuronopathic Gaucher disease 3 associated with cardiovascular calcifications. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Gaucher disease perinatal lethal (GDPL) [MIM:608013]: Distinct form of Gaucher disease type 2, characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Perinatal lethal Gaucher disease is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.
  • Parkinson disease (PARK) [MIM:168600]: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. {ECO:0000269 PubMed:12847165, ECO:0000269 PubMed:16148263, ECO:0000269 PubMed:19286695}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.

(52) Novoseek inferred disease relationships for GBA Gene

Disease -log(P) Hits PubMed IDs
gaucher disease 99 192
type 1 gaucher disease 97.9 98
gaucher disease, type i 96 51
type 2 gaucher disease 95.6 15
type 3 gaucher disease 93.7 13

Genatlas disease for GBA Gene

hydrops fetalis

Relevant External Links for GBA

GeneTests
GBA
GeneReviews
GBA
Genetic Association Database (GAD)
GBA
Human Genome Epidemiology (HuGE) Navigator
GBA
genes like me logo Genes that share disorders with GBA: view

Publications for GBA Gene

  1. Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation. (PMID: 16148263) Aharon-Peretz J. … Gershoni-Baruch R. (Neurology 2005) 3 4 23 49
  2. Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. (PMID: 18332251) Mata I.F. … Zabetian C.P. (Arch. Neurol. 2008) 3 4 23 49
  3. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. (PMID: 19286695) Neumann J. … Wood N.W. (Brain 2009) 3 4 23 49
  4. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. (PMID: 19846850) Sidransky E. … Ziegler S.G. (N. Engl. J. Med. 2009) 3 4 23 49
  5. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece. (PMID: 19383421) Kalinderi K. … Fidani L. (Neurosci. Lett. 2009) 3 23 49

Products for GBA Gene

Sources for GBA Gene

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