GenTIGS

Galactosidase beta 1 (GLB1) Associated conditions: 1. GM1 gangliosidosis type 2 2. Infantile GM1 gangliosidosis

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_000404.4	NP_000395.3	NC_000003.12	(32961107..33097145, complement)	Reference GRCh38.p14 Primary Assembly	P16278
2	REVIEWED	NM_001079811.3	NP_001073279.2	NC_000003.12	(32961107..33097145, complement)	Reference GRCh38.p14 Primary Assembly	P16278
3	REVIEWED	NM_001135602.3	NP_001129074.2	NC_000003.12	(32961107..33097145, complement)	Reference GRCh38.p14 Primary Assembly	P16278
4	REVIEWED	NM_001317040.2	NP_001303969.2	NC_000003.12	(32961107..33097145, complement)	Reference GRCh38.p14 Primary Assembly	P16278
5	REVIEWED	NM_001393580.1	NP_001380509.1	NC_000003.12	(32961107..33097145, complement)	Reference GRCh38.p14 Primary Assembly	P16278

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 1164 reference articles

Variant Information Galactosidase beta 1 (GLB1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Galactosidase beta 1 (GLB1)

ClinVar variants:Revealing mutagenic patterns

GO Term of Galactosidase beta 1 (GLB1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IBA	enables	beta-galactosidase activity	Function	21873635
2	Homo sapiens	IDA	enables	beta-galactosidase activity	Function	11927518 24737316
3	Homo sapiens	IMP	enables	beta-galactosidase activity	Function	25936995
4	Homo sapiens	TAS	enables	beta-galactosidase activity	Function	3143362
5	Homo sapiens	IPI	enables	protein binding	Function	15498789 22128166 32296183
6	Homo sapiens	TAS	located_in	extracellular region	Component	-
7	Homo sapiens	IDA	located_in	cytoplasm	Component	11927518
8	Homo sapiens	IBA	is_active_in	vacuole	Component	21873635
9	Homo sapiens	IDA	located_in	Golgi apparatus	Component	-
10	Homo sapiens	IDA	involved_in	carbohydrate metabolic process	Process	11927518
11	Homo sapiens	TAS	involved_in	glycosphingolipid metabolic process	Process	-
12	Homo sapiens	IEA	enables	galactoside binding	Function	-
13	Homo sapiens	IEA	involved_in	galactose catabolic process	Process	-
14	Homo sapiens	TAS	involved_in	heparan sulfate proteoglycan catabolic process	Process	-
15	Homo sapiens	TAS	located_in	azurophil granule lumen	Component	-
16	Homo sapiens	TAS	involved_in	keratan sulfate catabolic process	Process	-
17	Homo sapiens	IPI	enables	protein homodimerization activity	Function	22128166
18	Homo sapiens	TAS	located_in	lysosomal lumen	Component	-
19	Homo sapiens	IDA	located_in	intracellular membrane-bounded organelle	Component	-
20	Homo sapiens	IEA	located_in	perinuclear region of cytoplasm	Component	-
21	Homo sapiens	IEA	involved_in	response to cortisone	Process	-
22	Homo sapiens	HDA	located_in	extracellular exosome	Component	19056867 23533145
23	Homo sapiens	IEA	involved_in	response to Thyroglobulin triiodothyronine	Process	-
24	Homo sapiens	TAS	located_in	ficolin-1-rich granule lumen	Component	-