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

Gene Symbol	GBA
Entrez Gene ID	2629
Full Name	glucosidase, beta, acid
Synonyms	GBA1, GCB, GLUC
Gene Type	protein-coding
Organism	Homo sapiens (human)
Genome	Chromosome:1 Map Location: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].
Disorder	MIM: 606463 Gaucher disease, type I, 230800(3); Gaucher disease, type II, 230900

mRNA	NM_001005742, 284807146
Protein	NP_001005742, 54607047
Product	glucosylceramidase isoform 1 precursor
RefSeq Status	REVIEWED
mRNA	NM_001005741, 284807147
Protein	NP_001005741, 54607045
Product	glucosylceramidase isoform 1 precursor
RefSeq Status	REVIEWED
mRNA	NM_000157, 284807148
Protein	NP_000148, 54607043
Product	glucosylceramidase isoform 1 precursor
RefSeq Status	REVIEWED
mRNA	NM_001171811, 284807149
Protein	NP_001165282, 284807150
Product	glucosylceramidase isoform 2
RefSeq Status	REVIEWED
mRNA	NM_001171812, 284807151
Protein	NP_001165283, 284807152
Product	glucosylceramidase isoform 3 precursor
RefSeq Status	REVIEWED

KEGG

Homo sapiens (human)	GBA	NP_000148.2
Pan troglodytes (chimpanzee)	GBA	NP_001008997.1
Canis lupus familiaris (dog)	GBA	XP_855035.1
Bos taurus (cattle)	GBA	NP_001039886.1
Mus musculus (house mouse)	Gba	NP_032120.1
Danio rerio (zebrafish)	LOC559072	XP_687471.3
Drosophila melanogaster (fruit fly)	CG31414	NP_001097888.1
Drosophila melanogaster (fruit fly)	CG31148	NP_651172.1
Caenorhabditis elegans	Y4C6B.6	NP_500785.1
Caenorhabditis elegans	glucosylceramidase	NP_001040750.1
Caenorhabditis elegans	glucosylceramidase	NP_494208.2
Caenorhabditis elegans	F11E6.1	NP_503119.1

Process

ID	Name	Evidence
GO:0005975	carbohydrate metabolic process	IEA
GO:0006629	lipid metabolic process	IEA
GO:0006665	sphingolipid metabolic process	IEA
GO:0007040	lysosome organization	IEA
GO:0008219	cell death	IEA

Component

Function

ID	Name	Evidence
GO:0004348	glucosylceramidase activity	IEA
GO:0005515	protein binding	IPI
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA
GO:0043169	cation binding	IEA

GeneCards	GBA
PDB	3KEH, 1Y7V, 2NT0, 2F61, 2J25, 3GXF, 2V3E, 3GXM, 2WKL, 1OGS, 2NT1, 3GXD, 3GXI, 2NSX, 2V3F, 3KE0, 2V3D, 2WCG
UniProt	B7Z6S9, B7Z5G2, B7Z6S1, P04062
MIM	606463
Ensembl	ENSG00000177628
HGNC	4177
HPRD	06973

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RefSeq Accession	Definition	Sequence	Price	Select
NM_001005742	Homo sapiens glucosidase, beta, acid (GBA), transcript variant 3, mRNA.	Full Length	$743.56
NM_001005742		ORF Sequence	$467.19
NM_001005741	Homo sapiens glucosidase, beta, acid (GBA), transcript variant 2, mRNA.	Full Length	$749.07
NM_001005741		ORF Sequence	$467.19
NM_000157	Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA.	Full Length	$673.96
NM_000157		ORF Sequence	$467.19
NM_001171811	Homo sapiens glucosidase, beta, acid (GBA), transcript variant 4, mRNA.	Full Length	$696.00
NM_001171811		ORF Sequence	$391.50
NM_001171812	Homo sapiens glucosidase, beta, acid (GBA), transcript variant 5, mRNA.	Full Length	$630.46
NM_001171812		ORF Sequence	$424.56