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Gba glucosidase, beta, acid [ Mus musculus (house mouse) ]

Gene ID: 14466, updated on 8-Jul-2014
Official Symbol
Gbaprovided by MGI
Official Full Name
glucosidase, beta, acidprovided by MGI
Primary source
MGI:95665
See related
Ensembl:ENSMUSG00000028048
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
GC; GBA1; GLUC; GCase; betaGC
Location:
3 F1; 3 39.01 cM
Exon count :
13
Annotation release Status Assembly Chr Location
104 current GRCm38.p2 (GCF_000001635.22) 3 NC_000069.6 (89202914..89208681)

Chromosome 3 - NC_000069.6Genomic Context describing neighboring genes Neighboring gene secretory carrier membrane protein 3 Neighboring gene uncharacterized LOC102636781 Neighboring gene family with sequence similarity 189, member B Neighboring gene metaxin 1 Neighboring gene thrombospondin 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
glucosylceramidase activity ISO
Inferred from Sequence Orthology
more info
 
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
hydrolase activity, acting on glycosyl bonds IEA
Inferred from Electronic Annotation
more info
 
receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
cellular response to tumor necrosis factor ISO
Inferred from Sequence Orthology
more info
 
ceramide biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
glucosylceramide catabolic process ISO
Inferred from Sequence Orthology
more info
 
lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
metabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of MAP kinase activity ISO
Inferred from Sequence Orthology
more info
 
negative regulation of interleukin-6 production ISO
Inferred from Sequence Orthology
more info
 
positive regulation of protein dephosphorylation ISO
Inferred from Sequence Orthology
more info
 
regulation of water loss via skin ISO
Inferred from Sequence Orthology
more info
 
response to estrogen ISO
Inferred from Sequence Orthology
more info
 
response to glucocorticoid ISO
Inferred from Sequence Orthology
more info
 
response to pH ISO
Inferred from Sequence Orthology
more info
 
response to testosterone ISO
Inferred from Sequence Orthology
more info
 
response to thyroid hormone ISO
Inferred from Sequence Orthology
more info
 
skin morphogenesis ISO
Inferred from Sequence Orthology
more info
 
sphingolipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
sphingosine biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
termination of signal transduction ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
extracellular vesicular exosome ISO
Inferred from Sequence Orthology
more info
 
lysosomal lumen IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane ISO
Inferred from Sequence Orthology
more info
 
lysosome IEA
Inferred from Electronic Annotation
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
glucosylceramidase
Names
glucosylceramidase
glucocerebrosidase
acid beta glucosidase
beta-glucocerebrosidase
D-glucosyl-N-acylsphingosine glucohydrolase
NP_001070879.1
NP_032120.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001077411.2NP_001070879.1  glucosylceramidase precursor

    See proteins identical to NP_001070879.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents the shortest transcript and encodes the functional protein. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC161600, AK082767, BB632015
    Consensus CDS
    CCDS17493.1
    UniProtKB/Swiss-Prot
    P17439
    Related
    ENSMUSP00000076589, ENSMUST00000077367
    Conserved Domains (1) summary
    pfam02055
    Location:20512
    Blast Score: 2122
    Glyco_hydro_30; O-Glycosyl hydrolase family 30
  2. NM_008094.5NP_032120.1  glucosylceramidase precursor

    See proteins identical to NP_032120.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC161600
    Consensus CDS
    CCDS17493.1
    UniProtKB/Swiss-Prot
    P17439
    Related
    ENSMUSP00000130660, ENSMUST00000167998
    Conserved Domains (1) summary
    pfam02055
    Location:20512
    Blast Score: 2122
    Glyco_hydro_30; O-Glycosyl hydrolase family 30

RNA

  1. NR_122037.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate internal exon and uses alternate splice sites in two internal exons compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC161600

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p2 C57BL/6J

Genomic

  1. NC_000069.6 

    Range
    89202914..89208681
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006500997.1XP_006501060.1  

    Conserved Domains (1) summary
    pfam02055
    Location:20387
    Blast Score: 1607
    Glyco_hydro_30; O-Glycosyl hydrolase family 30
  2. XM_006500998.1XP_006501061.1  

    Conserved Domains (1) summary
    pfam02055
    Location:20312
    Blast Score: 1263
    Glyco_hydro_30; O-Glycosyl hydrolase family 30

Alternate Mm_Celera

Genomic

  1. AC_000025.1 

    Range
    89236609..89242363
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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