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GBA glucosidase, beta, acid [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000157 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_001005741 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_001005742 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 3, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_001171811 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 4, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_001171812 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 5, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006711270 PREDICTED: Homo sapiens glucosidase, beta, acid (GBA), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006726211 PREDICTED: Homo sapiens glucosidase, beta, acid (GBA), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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Gene Symbol GBA
Entrez Gene ID 2629
Full Name glucosidase, beta, acid
Synonyms GBA1, GCB, GLUC
General protein information
Preferred Names
glucosylceramidase
Names
glucosylceramidase
alglucerase
imiglucerase
acid beta-glucosidase
beta-glucocerebrosidase
lysosomal glucocerebrosidase
D-glucosyl-N-acylsphingosine glucohydrolase
NP_000148.2
NP_001005741.1
NP_001005742.1
NP_001165282.1
NP_001165283.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1q21

Summary 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].
Disorder

MIM: 606463

Gaucher disease, type I, 230800(3); Gaucher disease, type II, 230900

mRNA Protein Product Sequence Price Select
NM_000157, 284807148 NP_000148, 54607043 glucosylceramidase isoform 1 precursor ORF Sequence $360.00
NM_001005741, 284807147 NP_001005741, 54607045 glucosylceramidase isoform 1 precursor ORF Sequence $360.00
NM_001005742, 284807146 NP_001005742, 54607047 glucosylceramidase isoform 1 precursor ORF Sequence $360.00
NM_001171811, 284807149 NP_001165282, 284807150 glucosylceramidase isoform 2 ORF Sequence $360.00
NM_001171812, 284807151 NP_001165283, 284807152 glucosylceramidase isoform 3 precursor ORF Sequence $550.00
XM_006711270, 578800808 XP_006711333, 578800809 glucosylceramidase isoform X1 ORF Sequence $550.00
XM_006726211, 578839331 XP_006726274, 578839332 glucosylceramidase isoform X1 ORF Sequence $550.00
KEGG
hsa00600Sphingolipid metabolism
hsa00511Other glycan degradation
hsa04142Lysosome
Reactome
REACT_19323Sphingolipid metabolism
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
REACT_116105Glycosphingolipid metabolism
Homo sapiens (human)GBANP_001005742.1
Pan troglodytes (chimpanzee)GBANP_001008997.1
Canis lupus familiaris (dog)GBAXP_855035.1
Bos taurus (cattle)GBANP_001039886.1
Mus musculus (house mouse)GbaNP_001070879.1
Rattus norvegicus (Norway rat)GbaNP_001121111.1
Gallus gallus (chicken)LOC101748171XP_004950417.1
Gallus gallus (chicken)LOC101750375XP_004950434.1
Danio rerio (zebrafish)gbaXP_687471.3
Caenorhabditis elegansgba-3NP_503119.1
Caenorhabditis elegansgba-1NP_001040750.1
Caenorhabditis elegansgba-2NP_494208.2
Caenorhabditis elegansgba-4NP_500785.1
Process
IDNameEvidence
GO:0005975carbohydrate metabolic processIEA
GO:0006665sphingolipid metabolic processTAS
GO:0006680glucosylceramide catabolic processIMP
GO:0006687glycosphingolipid metabolic processTAS
GO:0008219cell deathIEA
GO:0009268response to pHIEA
GO:0023021termination of signal transductionIMP
GO:0032715negative regulation of interleukin-6 productionIDA
GO:0033561regulation of water loss via skinIEA
GO:0033574response to testosteroneIEA
GO:0035307positive regulation of protein dephosphorylationIMP
GO:0043407negative regulation of MAP kinase activityIMP
GO:0043589skin morphogenesisIEA
GO:0043627response to estrogenIEA
GO:0044281small molecule metabolic processTAS
GO:0046512sphingosine biosynthetic processIMP
GO:0046513ceramide biosynthetic processIMP
GO:0050728negative regulation of inflammatory responseIC
GO:0051384response to glucocorticoidIEA
GO:0071356cellular response to tumor necrosis factorIMP
GO:0097066response to thyroid hormoneIEA
Component
IDNameEvidence
GO:0005765lysosomal membraneIDA
GO:0005765lysosomal membraneISS
GO:0005765lysosomal membraneTAS
GO:0043202lysosomal lumenISS
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0004348glucosylceramidase activityIDA
GO:0005102receptor bindingISS
GO:0005515protein bindingIPI
GeneCards GBA
UniProt B7Z6S9, P04062
Vega OTTHUMG00000035841
MIM 606463
Ensembl ENSG00000177628
HGNC 4177
HPRD 06973

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the GBA gene?

The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase. This enzyme is active in lysosomes, which are structures inside cells that act as recycling centers. Lysosomes use digestive enzymes to break down toxic substances, digest bacteria that invade the cell, and recycle worn-out cell components. Based on these functions, enzymes in the lysosome are sometimes called housekeeping enzymes. Beta-glucocerebrosidase is a housekeeping enzyme that helps break down a large molecule called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide).

Interactant

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