GBE1 1,4-alpha-glucan branching enzyme 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GBE1provided by HGNC
Official Full Name: 1,4-alpha-glucan branching enzyme 1provided by HGNC
Primary source: HGNC:HGNC:4180
See related: Ensembl:ENSG00000114480 MIM:607839; AllianceGenome:HGNC:4180
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GBE; APBD; GSD4
Summary: The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in fat (RPKM 48.8), adrenal (RPKM 29.5) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p12.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (81489703..81761645, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (81543135..81815065, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (81538854..81810796, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Abundant copathologies of polyglucosan bodies, frontotemporal lobar degeneration with TDP-43 inclusions and ageing-related tau astrogliopathy in a family with a GBE1 mutation.
Title: Abundant copathologies of polyglucosan bodies, frontotemporal lobar degeneration with TDP-43 inclusions and ageing-related tau astrogliopathy in a family with a GBE1 mutation.
A family study implicates GBE1 in the etiology of autism spectrum disorder.
Title: A family study implicates GBE1 in the etiology of autism spectrum disorder.
GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.
Title: GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.
Hypoxia-induced GBE1 expression promotes tumor progression through metabolic reprogramming in lung adenocarcinoma.
Title: Hypoxia-induced GBE1 expression promotes tumor progression through metabolic reprogramming in lung adenocarcinoma.
Data show a definitive role of GBE1 in the infiltration of T lymphocytes into lung adenocarcinoma sites. Its depletion can upregulate CCL5 and CXCL10 expression through STING signaling to activate IFN-I pathway, potentiate T cell infiltration, and cause induced expression of PD-L1 on tumor cells simultaneously.
Title: Lung adenocarcinoma-intrinsic GBE1 signaling inhibits anti-tumor immunity.
Case Report: novel heterozygous variant (c.760A>G; p.Thr254Ala) in exon 6 of the GBE1 gene resulting in glycogen storage disease type IV.
Title: A novel GBE1 gene variant in a child with glycogen storage disease type IV.
The crystal structure of GBE1 in complex with oligosaccharides was determined, the structural and molecular bases of Adult Polyglucosan Body Disease-linked missense mutations was investigated.
Title: Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
The presence of polyglucosan bodies in intramuscular nerve twigs by itself and is not an indication of APBD mutation.
Title: Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease.
GBE1 mutation is found in manifesting heterozygous patients with adult polyglucosan body disease
Title: Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
Case Reports: novel missense/deletion mutations in GBE1 in glycogen storage disease type IV.
Title: Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Adult polyglucosan body disease MedGen: C1849722 OMIM: 263570 GeneReviews: GBE1 Adult Polyglucosan Body Disease	Compare labs
Glycogen storage disease, type IV MedGen: C0017923 OMIM: 232500 GeneReviews: Glycogen Storage Disease Type IV	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-12433 (e-PCR)
- UniSTS:13835

D3S2780E (e-PCR)
- UniSTS:150820

G16592 (e-PCR)
- UniSTS:8498

RH69848 (e-PCR)
- UniSTS:14643

Bdy18e01 (e-PCR)
- UniSTS:48246

SHGC-132085 (e-PCR)
- UniSTS:170636

WI-4729 (e-PCR)
- UniSTS:30606

GDB:251825 (e-PCR)
- UniSTS:156321

RH36490 (e-PCR)
- UniSTS:49600

RH45132 (e-PCR)
- UniSTS:4093

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 1,4-alpha-glucan branching enzyme activity	EXP Inferred from Experiment more info	PubMed
enables 1,4-alpha-glucan branching enzyme activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables 1,4-alpha-glucan branching enzyme activity	IDA Inferred from Direct Assay more info	PubMed
enables 1,4-alpha-glucan branching enzyme activity	TAS Traceable Author Statement more info
enables 1,4-alpha-glucan branching enzyme activity (using a glucosylated glycogenin as primer for glycogen synthesis)	IEA Inferred from Electronic Annotation more info
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables cation binding	IEA Inferred from Electronic Annotation more info
enables hydrolase activity, hydrolyzing O-glycosyl compounds	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in generation of precursor metabolites and energy	TAS Traceable Author Statement more info	PubMed
involved_in glycogen biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in glycogen biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glycogen biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in glycogen biosynthetic process	TAS Traceable Author Statement more info
involved_in glycogen metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed

General protein information

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Preferred Names: 1,4-alpha-glucan-branching enzyme

Names: amylo-(1,4 to 1,6) transglucosidase; amylo-(1,4 to 1,6) transglycosylase; brancher enzyme; glucan (1,4-alpha-), branching enzyme 1; glycogen branching enzyme

NP_000149.4

EC 2.4.1.18

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011810.2 RefSeqGene

Range

5000..276942

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000158.4 → NP_000149.4 1,4-alpha-glucan-branching enzyme

Status: REVIEWED

Source sequence(s)

AC017015, AC025029, AC099049

Consensus CDS

CCDS54612.1

UniProtKB/Swiss-Prot

B3KWV3, Q04446, Q96EN0

UniProtKB/TrEMBL

Q59ET0

Related

ENSP00000410833.2, ENST00000429644.7

Conserved Domains (1) summary

cl25948
Location:2 → 699

PulA; Pullulanase/glycogen debranching enzyme [Carbohydrate transport and metabolism]