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Gba
Gene Detail
 Symbol
Name
ID
Gba
glucosidase, beta, acid
MGI:95665
Synonyms betaGC, GBA1, GC, GCase, glucocerebrosidase
Feature Type protein coding gene
Genetic Map
Chromosome 3
39.01 cM
Detailed Genetic Map ± 1 cM


Mapping data(35)
Sequence Map
Chr3:89202928-89208681 bp, + strand
From NCBI annotation of GRCm38

  5754 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:68040  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 dog; 1 zebrafish

Protein SuperFamily: glucosylceramidase
Gene Tree: Gba

Human
homologs
Human Homolog GBA, glucosidase, beta, acid
NCBI Gene ID 2629
neXtProt AC  NX_P04062
Human Synonyms  GBA1, GCB, GLUC
Human Chr (Location)  1q21; chr1:155234448-155244862 (-)  GRCh38
Disease Associations  (7) Diseases Associated with Human GBA
Alleles
and
phenotypes
All alleles(21) : Targeted(20) Gene trapped(1)
 
Mutations in this locus variably lower enzyme activity and result in accumulated glucocerebroside in reticuloendotehelial cell lysosomes and glucosylceramide in brain, liver and skin. Severe mutants die perinatally with compromised epidermal permeability.
 
Human Diseases Modeled Using Mouse Gba (3)    Alleles Annotated to Human Diseases(12)    Phenotype Images(11)
Gene Ontology
(GO)
classifications
All GO classifications: (22 annotations)
Process carbohydrate metabolic process, cellular response to tumor necrosis factor, ...
Component lysosomal lumen, lysosomal membrane, ...
Function glucosylceramidase activity, hydrolase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (243)    Tissues (198)    Images (5)
Theiler Stages: 7, 8, 10, 12, 16, 18, 20, 22, 23, 24, 25, 26, 28
Assay TypeResults
RNA in situ 224
Northern blot 12
RT-PCR 7
cDNA source data(78)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(90) Genomic(8) cDNA(79) Primer pair(3)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000028048 (Evidence)
Entrez Gene14466 (Evidence)
UniGene5031
DFCITC1576058, TC1737489
DoTSDT.111065012, DT.534279, DT.94132373
NIA Mouse Gene IndexU003457
EC3.2.1.45
Consensus CDS ProjectCCDS17493.1
International Mouse Knockout Project StatusGba
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 14466 NCBI Gene Model | MGI Sequence Detail 5754 C57BL/6J ±  kb
transcript NM_008094 RefSeq | MGI Sequence Detail 1938 C57BL/6 
polypeptide P17439 UniProt | EBI | MGI Sequence Detail 515 Not Applicable 

For the selected sequences
All sequences(30) RefSeq(8) UniProt(1)
Polymorphisms All PCR and RFLP(10) : PCR(3) RFLP(7) SNPs within 2kb(66 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR013781 Glycoside hydrolase, catalytic domain
InterPro IPR001139 Glycoside hydrolase, family 30
InterPro IPR017853 Glycoside hydrolase, superfamily
InterPro IPR013780 Glycosyl hydrolase, family 13, all-beta
Protein Ontology PR:000007867 glucosylceramidase
Graphical View of Protein Domain Structure
References (Earliest) J:18511 Pentchev PG, et al., A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase. Biochim Biophys Acta. 1980 Sep 8;619(3):669-79
(Latest) J:206864 Vitner EB, et al., RIPK3 as a potential therapeutic target for Gaucher's disease. Nat Med. 2014 Feb;20(2):204-8
All references(110)
Other
accession IDs
MGD-MRK-10007

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory