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; chr1:155204239-155214653 (-)  GRCh37.p10
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	catalytic activity, glucosylceramidase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (4 records)
Data Summary: Results (244)    Tissues (198)    Images (5)
Theiler Stages: 7, 8, 10, 12, 16, 18, 20, 22, 23, 24, 25, 26, 28

Assay Type	Results
RNA in situ	225
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 Model	ENSMUSG00000028048 (Evidence)
Entrez Gene	14466 (Evidence)
UniGene	5031
DFCI	TC1576058, TC1737489
DoTS	DT.111065012, DT.534279, DT.94132373
NIA Mouse Gene Index	U003457
EC	3.2.1.45
Consensus CDS Project	CCDS17493.1
International Mouse Knockout Project Status	Gba

Sequences

Length	Strain/Species
genomic	14466	NCBI Gene Model | MGI Sequence Detail	5754	C57BL/6J
transcript	NM_008094	RefSeq | MGI Sequence Detail	1938	C57BL/6
polypeptide	P17439	UniProt | EBI | MGI Sequence Detail	515	Not Applicable

All sequences(26) RefSeq(4) UniProt(1)

Polymorphisms

All PCR and RFLP(10) : PCR(3) RFLP(7) SNPs(58 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:193256 Sardi SP, et al., Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies. Proc Natl Acad Sci U S A. 2013 Feb 26;110(9):3537-42
All references(101)

Other accession IDs

MGD-MRK-10007