GenTIGS

Glucosylceramidase beta 1 (GBA1) Associated conditions: 1. Gaucher disease 2. Alpha thalassemia-X-linked intellectual disability syndrome

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000157.4	NP_000148.2	NC_000001.11	(155234451..155244626, complement)	Reference GRCh38.p14 Primary Assembly	P04062
2	REVIEWED	NM_000157.4	NP_000148.2	NW_003315906.1	(39474..49649, complement)	Reference GRCh38.p14 ALT_REF_LOCI_1	P04062
3	REVIEWED	NM_001005741.3	NP_001005741.1	NC_000001.11	(155234451..155244626, complement)	Reference GRCh38.p14 Primary Assembly	P04062
4	REVIEWED	NM_001005741.3	NP_001005741.1	NW_003315906.1	(39474..49649, complement)	Reference GRCh38.p14 ALT_REF_LOCI_1	P04062
5	REVIEWED	NM_001005742.3	NP_001005742.1	NC_000001.11	(155234451..155244626, complement)	Reference GRCh38.p14 Primary Assembly	P04062
6	REVIEWED	NM_001005742.3	NP_001005742.1	NW_003315906.1	(39474..49649, complement)	Reference GRCh38.p14 ALT_REF_LOCI_1	P04062
7	REVIEWED	NM_001171811.2	NP_001165282.1	NC_000001.11	(155234451..155244626, complement)	Reference GRCh38.p14 Primary Assembly	P04062
8	REVIEWED	NM_001171811.2	NP_001165282.1	NW_003315906.1	(39474..49649, complement)	Reference GRCh38.p14 ALT_REF_LOCI_1	P04062
9	REVIEWED	NM_001171812.2	NP_001165283.1	NC_000001.11	(155234451..155244626, complement)	Reference GRCh38.p14 Primary Assembly	P04062
10	REVIEWED	NM_001171812.2	NP_001165283.1	NW_003315906.1	(39474..49649, complement)	Reference GRCh38.p14 ALT_REF_LOCI_1	P04062

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1514 reference articles

Variant Information Glucosylceramidase beta 1 (GBA1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Glucosylceramidase beta 1 (GBA1)

ClinVar variants:Revealing mutagenic patterns

GO Term of Glucosylceramidase beta 1 (GBA1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	enables	galactosylceramidase activity	Function	-
2	Homo sapiens	IBA	enables	glucosylceramidase activity	Function	21873635
3	Homo sapiens	IDA	enables	glucosylceramidase activity	Function	9201993 16293621 19279011 24211208
4	Homo sapiens	IMP	enables	glucosylceramidase activity	Function	15916907 21700325 23580063
5	Homo sapiens	ISS	enables	signaling receptor binding	Function	18022370
6	Homo sapiens	IPI	enables	scavenger receptor binding	Function	25202012
7	Homo sapiens	IPI	enables	protein binding	Function	21098288 24162852 27789271
8	Homo sapiens	IMP	located_in	lysosome	Component	25202012
9	Homo sapiens	HDA	located_in	lysosomal membrane	Component	17897319
10	Homo sapiens	IDA	located_in	lysosomal membrane	Component	17187079
11	Homo sapiens	ISS	located_in	lysosomal membrane	Component	18022370
12	Homo sapiens	TAS	located_in	lysosomal membrane	Component	-
13	Homo sapiens	ISS	located_in	endoplasmic reticulum	Component	-
14	Homo sapiens	ISS	located_in	Golgi apparatus	Component	-
15	Homo sapiens	ISS	located_in	trans-Golgi network	Component	-
16	Homo sapiens	IBA	involved_in	glucosylceramide catabolic process	Process	21873635
17	Homo sapiens	IDA	involved_in	glucosylceramide catabolic process	Process	9201993 16293621 24211208
18	Homo sapiens	IMP	involved_in	glucosylceramide catabolic process	Process	19279011 21700325 24022302
19	Homo sapiens	IMP	involved_in	autophagy	Process	27378698
20	Homo sapiens	IMP	NOT involved_in	mitochondrion organization	Process	25456120
21	Homo sapiens	IMP	involved_in	lysosome organization	Process	27378698
22	Homo sapiens	IDA	involved_in	cholesterol metabolic process	Process	24211208 26724485
23	Homo sapiens	IEA	involved_in	cholesterol metabolic process	Process	-
24	Homo sapiens	IEA	involved_in	determination of adult lifespan	Process	-
25	Homo sapiens	IEA	involved_in	cellular response to starvation	Process	-
26	Homo sapiens	IEA	involved_in	response to pH	Process	-
27	Homo sapiens	IEA	involved_in	microglia differentiation	Process	-
28	Homo sapiens	TAS	involved_in	regulation of macroautophagy	Process	26388395
29	Homo sapiens	IEA	involved_in	antigen processing and presentation	Process	-
30	Homo sapiens	IEA	involved_in	lipid storage	Process	-
31	Homo sapiens	IEA	involved_in	cerebellar Purkinje cell layer formation	Process	-
32	Homo sapiens	IEA	involved_in	pyramidal neuron differentiation	Process	-
33	Homo sapiens	IEA	involved_in	respiratory electron transport chain	Process	-
34	Homo sapiens	IMP	involved_in	termination of signal transduction	Process	19279008
35	Homo sapiens	IDA	involved_in	lipid glycosylation	Process	24211208 26724485
36	Homo sapiens	IMP	NOT involved_in	neuron projection development	Process	25456120
37	Homo sapiens	IDA	involved_in	negative regulation of protein-containing complex assembly	Process	26392287
38	Homo sapiens	IMP	involved_in	regulation of TOR signaling	Process	27378698
39	Homo sapiens	IEA	involved_in	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	Process	-
40	Homo sapiens	IDA	involved_in	negative regulation of interleukin-6 production	Process	19279008
41	Homo sapiens	IEA	involved_in	T cell differentiation in thymus	Process	-
42	Homo sapiens	IEA	involved_in	response to testosterone	Process	-
43	Homo sapiens	IMP	involved_in	positive regulation of protein dephosphorylation	Process	19279008
44	Homo sapiens	IEA	involved_in	proteasome-mediated ubiquitin-dependent protein catabolic process	Process	-
45	Homo sapiens	ISS	located_in	lysosomal lumen	Component	18022370
46	Homo sapiens	IDA	involved_in	positive regulation of protein-containing complex disassembly	Process	26392287
47	Homo sapiens	IMP	involved_in	negative regulation of MAP kinase activity	Process	19279008
48	Homo sapiens	IEA	involved_in	negative regulation of neuron apoptotic process	Process	-
49	Homo sapiens	IEA	involved_in	response to estrogen	Process	-
50	Homo sapiens	IMP	involved_in	sphingosine biosynthetic process	Process	19279011
51	Homo sapiens	IMP	involved_in	ceramide biosynthetic process	Process	19279011
52	Homo sapiens	IDA	enables	glucosyltransferase activity	Function	24211208 26724485
53	Homo sapiens	IEA	involved_in	cell maturation	Process	-
54	Homo sapiens	IEA	involved_in	brain morphogenesis	Process	-
55	Homo sapiens	IEA	involved_in	homeostasis of number of cells	Process	-
56	Homo sapiens	IDA	enables	steryl-beta-glucosidase activity	Function	24211208 26724485
57	Homo sapiens	IC	involved_in	negative regulation of inflammatory response	Process	19279008
58	Homo sapiens	IEA	involved_in	neuromuscular process	Process	-
59	Homo sapiens	IEA	involved_in	neuron apoptotic process	Process	-
60	Homo sapiens	IEA	involved_in	establishment of skin barrier	Process	-
61	Homo sapiens	IEA	involved_in	microglial cell proliferation	Process	-
62	Homo sapiens	IEA	involved_in	motor behavior	Process	-
63	Homo sapiens	HDA	located_in	extracellular exosome	Component	23533145
64	Homo sapiens	IMP	involved_in	cellular response to tumor necrosis factor	Process	19279008
65	Homo sapiens	IEA	involved_in	hematopoietic stem cell proliferation	Process	-
66	Homo sapiens	IEA	involved_in	response to dexamethasone	Process	-
67	Homo sapiens	IEA	involved_in	lymphocyte migration	Process	-
68	Homo sapiens	IEA	involved_in	response to thyroid hormone	Process	-
69	Homo sapiens	IEA	involved_in	beta-glucoside catabolic process	Process	-
70	Homo sapiens	IGI	involved_in	positive regulation of protein lipidation	Process	26392287
71	Homo sapiens	IMP	involved_in	positive regulation of neuronal action potential	Process	25456120
72	Homo sapiens	IEA	involved_in	positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization	Process	-
73	Homo sapiens	IEA	involved_in	autophagosome organization	Process	-
74	Homo sapiens	TAS	involved_in	regulation of lysosomal protein catabolic process	Process	25456120