GenTIGS

1,4-alpha-glucan branching enzyme 1 (GBE1) Associated conditions: 1. Adult polyglucosan body disease 2. Osteogenesis imperfecta 3. Glycogen storage disease, type IV 4. Cutis laxa

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_000158.4	NP_000149.4	NC_000003.12	(81489702..81761644, complement)	Reference GRCh38.p14 Primary Assembly	Q59ET0
2	REVIEWED	XR_007095662.1	-	NC_000003.12	(81489702..81761644, complement)	Reference GRCh38.p14 Primary Assembly	Q59ET0

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 188 reference articles

Variant Information 1,4-alpha-glucan branching enzyme 1 (GBE1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene 1,4-alpha-glucan branching enzyme 1 (GBE1)

ClinVar variants:Revealing mutagenic patterns

GO Term of 1,4-alpha-glucan branching enzyme 1 (GBE1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	enables	catalytic activity	Function	-
2	Homo sapiens	EXP	enables	1,4-alpha-glucan branching enzyme activity	Function	8613547
3	Homo sapiens	IBA	enables	1,4-alpha-glucan branching enzyme activity	Function	-
4	Homo sapiens	IDA	enables	1,4-alpha-glucan branching enzyme activity	Function	26199317
5	Homo sapiens	IEA	enables	1,4-alpha-glucan branching enzyme activity	Function	-
6	Homo sapiens	TAS	enables	1,4-alpha-glucan branching enzyme activity	Function	8613547
7	Homo sapiens	IEA	enables	hydrolase activity, hydrolyzing O-glycosyl compounds	Function	-
8	Homo sapiens	IPI	enables	protein binding	Function	24837458 36217029
9	Homo sapiens	IBA	is_active_in	cytoplasm	Component	-
10	Homo sapiens	ISS	located_in	cytoplasm	Component	-
11	Homo sapiens	IEA	is_active_in	cytosol	Component	-
12	Homo sapiens	IEA	located_in	cytosol	Component	-
13	Homo sapiens	TAS	located_in	cytosol	Component	-
14	Homo sapiens	IEA	involved_in	carbohydrate metabolic process	Process	-
15	Homo sapiens	TAS	involved_in	glycogen metabolic process	Process	8613547
16	Homo sapiens	IBA	involved_in	glycogen biosynthetic process	Process	-
17	Homo sapiens	IDA	involved_in	glycogen biosynthetic process	Process	26199317
18	Homo sapiens	IEA	involved_in	glycogen biosynthetic process	Process	-
19	Homo sapiens	TAS	involved_in	glycogen biosynthetic process	Process	-
20	Homo sapiens	TAS	involved_in	generation of precursor metabolites and energy	Process	8613547
21	Homo sapiens	IEA	enables	transferase activity	Function	-
22	Homo sapiens	IEA	enables	glycosyltransferase activity	Function	-
23	Homo sapiens	IEA	enables	carbohydrate binding	Function	-
24	Homo sapiens	IEA	enables	cation binding	Function	-
25	Homo sapiens	IEA	involved_in	negative regulation of neuron apoptotic process	Process	-
26	Homo sapiens	HDA	located_in	extracellular exosome	Component	19056867 23533145