GenTIGS

Galactosidase alpha (GLA) Associated conditions: 1. Fabry disease

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_000169.3	NP_000160.1	NC_000023.11	(101397802..101407924, complement)	Reference GRCh38.p14 Primary Assembly	Q53Y83
2	REVIEWED	NM_001406747.1	NP_001393676.1	NC_000023.11	(101397802..101407924, complement)	Reference GRCh38.p14 Primary Assembly	Q53Y83
3	REVIEWED	NM_001406748.1	NP_001393677.1	NC_000023.11	(101397802..101407924, complement)	Reference GRCh38.p14 Primary Assembly	Q53Y83
4	REVIEWED	NM_001406749.1	NP_001393678.1	NC_000023.11	(101397802..101407924, complement)	Reference GRCh38.p14 Primary Assembly	Q53Y83
5	REVIEWED	NR_164783.1	-	NC_000023.11	(101397802..101407924, complement)	Reference GRCh38.p14 Primary Assembly	Q53Y83
6	REVIEWED	NR_176252.1	-	NC_000023.11	(101397802..101407924, complement)	Reference GRCh38.p14 Primary Assembly	Q53Y83
7	REVIEWED	NR_176253.1	-	NC_000023.11	(101397802..101407924, complement)	Reference GRCh38.p14 Primary Assembly	Q53Y83

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 1277 reference articles

Variant Information Galactosidase alpha (GLA) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Galactosidase alpha (GLA)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	enables	catalytic activity	Function	39940
2	Homo sapiens	IBA	enables	alpha-galactosidase activity	Function	21873635
3	Homo sapiens	IDA	enables	alpha-galactosidase activity	Function	39940 27211852
4	Homo sapiens	IMP	enables	alpha-galactosidase activity	Function	16372133
5	Homo sapiens	IDA	enables	signaling receptor binding	Function	1332979
6	Homo sapiens	IPI	enables	protein binding	Function	1332979 6313412 21949853
7	Homo sapiens	IDA	located_in	extracellular region	Component	3029062
8	Homo sapiens	IMP	located_in	extracellular region	Component	1332979
9	Homo sapiens	TAS	located_in	extracellular region	Component	-
10	Homo sapiens	IBA	is_active_in	cytoplasm	Component	21873635
11	Homo sapiens	IMP	located_in	cytoplasm	Component	1332979
12	Homo sapiens	IMP	located_in	lysosome	Component	1332979
13	Homo sapiens	TAS	located_in	lysosome	Component	3029062
14	Homo sapiens	IMP	located_in	Golgi apparatus	Component	1332979
15	Homo sapiens	IBA	involved_in	oligosaccharide metabolic process	Process	21873635
16	Homo sapiens	IDA	involved_in	oligosaccharide metabolic process	Process	39940
17	Homo sapiens	IBA	involved_in	glycoside catabolic process	Process	21873635
18	Homo sapiens	TAS	enables	hydrolase activity	Function	7911050
19	Homo sapiens	IEA	enables	galactoside binding	Function	-
20	Homo sapiens	IDA	enables	galactosylgalactosylglucosylceramidase activity	Function	8804427
21	Homo sapiens	IMP	enables	galactosylgalactosylglucosylceramidase activity	Function	10838196
22	Homo sapiens	TAS	located_in	azurophil granule lumen	Component	-
23	Homo sapiens	IDA	enables	protein homodimerization activity	Function	6256390
24	Homo sapiens	TAS	located_in	lysosomal lumen	Component	-
25	Homo sapiens	ISS	involved_in	negative regulation of nitric oxide biosynthetic process	Process	-
26	Homo sapiens	ISS	involved_in	glycosylceramide catabolic process	Process	-
27	Homo sapiens	IDA	involved_in	glycosphingolipid catabolic process	Process	8804427
28	Homo sapiens	IMP	involved_in	glycosphingolipid catabolic process	Process	10838196
29	Homo sapiens	TAS	involved_in	glycosphingolipid catabolic process	Process	2160973
30	Homo sapiens	ISS	involved_in	negative regulation of nitric-oxide synthase activity	Process	-
31	Homo sapiens	HDA	located_in	extracellular exosome	Component	23533145