GBE1 Gene (Protein Coding)

1,4-Alpha-Glucan Branching Enzyme 1

GCID:: GC03M081489

GIFtS:: 45

Genes Participants

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 wit... See more...

Aliases for GBE1 Gene

1,4-Alpha-Glucan Branching Enzyme 1 ² ³ ⁵
Glucan (1,4-Alpha-), Branching Enzyme 1 ² ³
1,4-Alpha-Glucan-Branching Enzyme ³ ⁴
Glycogen Branching Enzyme ² ³
Brancher Enzyme ³ ⁴
EC 2.4.1.18 ⁴ ⁵¹
Amylo-(1,4 To 1,6) Transglucosidase ³

Amylo-(1,4 To 1,6) Transglycosylase ³
Glycogen Storage Disease Type IV ²
Glycogen-Branching Enzyme ⁴
Andersen Disease ²
APBD ³
GSD4 ³
GBE1 ⁵
GBE ³

External Ids for GBE1 Gene

HGNC: 4180
NCBI Entrez Gene: 2632
Ensembl: ENSG00000114480
OMIM®: 607839
UniProtKB/Swiss-Prot: Q04446

Previous GeneCards Identifiers for GBE1 Gene

GC03M079179
GC03M081224
GC03M081344
GC03M081459
GC03M081621

Search aliases for GBE1 gene in PubMed and other databases

Summaries for GBE1 Gene

Entrez Gene Summary for GBE1 Gene

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]

GeneCards Summary for GBE1 Gene

GBE1 (1,4-Alpha-Glucan Branching Enzyme 1) is a Protein Coding gene. Diseases associated with GBE1 include Glycogen Storage Disease Iv and Polyglucosan Body Neuropathy, Adult Form. Among its related pathways are Galactose metabolism and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and 1,4-alpha-glucan branching enzyme activity. An important paralog of this gene is SLC3A2.

UniProtKB/Swiss-Prot Summary for GBE1 Gene

Required for normal glycogen accumulation (PubMed:8463281, PubMed:26199317, PubMed:8613547). The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable).
- GLGB_HUMAN,Q04446

Gene Wiki entry for GBE1 Gene

Additional gene information for GBE1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GBE1 Gene

Genomics for GBE1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data

Request up-to-date GeneHancer data

Promoters and enhancers for GBE1 Gene

GeneHancer (GH) Identifier	GH Type	GH Score	GH Sources	Gene Association Score	Total Score	TSS distance (kb)	Number of Genes Away	Size (kb)	Transcription Factor Binding Sites
GH03J081757	Promoter/Enhancer	2.4	EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER	255.5	+1.7	1670	5.7	TBP SP1 MXD4 FEZF1 CEBPA MNT IKZF1 SMAD5 HES1 ZNF217	GBE1 HSALNG0027090 lnc-CADM2-19 ENSG00000242190 HSALNG0027091 piR-56229-058
GH03J081725	Enhancer	0.9	Ensembl ENCODE dbSUPER	17.9	+32.3	32344	7.8	FEZF1 ZIC2 ZNF610 VEZF1 EP300 PRDM1 JUND ATF2 PKNOX1 CREB1	GBE1 piR-56229-058 HSALNG0027089
GH03J081734	Enhancer	0.8	Ensembl ENCODE dbSUPER	17.5	+26.2	26152	2.2	BHLHE40 CEBPB EP300 CTBP1 ZNF217 FOS SOX13	GBE1 piR-56229-058 HSALNG0027089
GH03J081788	Enhancer	0.6	Ensembl	12.8	-28.0	-27956	2	SMC3 BATF MTA3 NR2F1 ATF2 JUNB ZBED1 IKZF1 ATF7 TBL1XR1	GBE1 piR-59347-009 piR-45726-026
GH03J081740	Promoter/Enhancer	1.4	Ensembl ENCODE dbSUPER	5.6	+18.4	18428	5.6	FEZF1 MNT IKZF1 MBD2 BHLHE40 CEBPB ARNT VEZF1 NBN EP300	GBE1 piR-56229-058 HSALNG0027089

- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GBE1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GBE1

Top Transcription factor binding sites by QIAGEN in the GBE1 gene promoter:

AP-1
ATF-2
c-Jun
Chx10
Evi-1
GR
GR-alpha
POU2F1a
POU6F1 (c2)
STAT3

Genomic Locations for GBE1 Gene

Latest Assembly

chr3:81,489,703-81,761,645: (GRCh38/hg38)

Size:: 271,943 bases
Orientation:: Minus strand

Previous Assembly

chr3:81,538,854-81,810,796: (GRCh37/hg19 by Entrez Gene)

Size:: 271,943 bases
Orientation:: Minus strand

chr3:81,538,850-81,811,312: (GRCh37/hg19 by Ensembl)

Size:: 272,463 bases
Orientation:: Minus strand

Genomic View for GBE1 Gene

Genes around GBE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:

3p12.2 by HGNC
3p12.2 by Entrez Gene
3p12.2 by Ensembl

GBE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)

Genomic Location for GBE1 Gene — Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for GBE1 Gene

NC_000003.12

Proteins for GBE1 Gene

Protein details for GBE1 Gene (UniProtKB/Swiss-Prot)
Protein Symbol:

Q04446-GLGB_HUMAN

Recommended name:

1,4-alpha-glucan-branching enzyme

Protein Accession:

Q04446

Secondary Accessions:
- B3KWV3
- Q96EN0
Protein attributes for GBE1 Gene
Size:

702 amino acids

Molecular mass:

80474 Da
Quaternary structure:
Monomer.
Three dimensional structures from OCA and Proteopedia for GBE1 Gene
- 4BZY (3D)
- 5CLT (3D)
- 5CLW (3D)

neXtProt entry for GBE1 Gene

Protein Expression for GBE1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for GBE1 Gene

Q04446:

YYASFGY
FIFNFHP
GYLNFMGNEFGHPEW
EMYTNMS
EVLRFLLSN
LHKMIRLIT
DKFSRGYE
KDEDWNMG
RLAMAIPD
ESHDQALVGDK
HSHASKN
DGLNMFDG
LGGEGYLNF
FDYRLAM
LILQNVD
YCKEWAPGAEGVFLTG
YIPSRVAL
GNEFGHPEWLDFPR
YFHSGPRG
FFAASSR
FDGFRFDG
EDVSGMP

Post-translational modifications for GBE1 Gene

Ubiquitination at Lys39, Lys68, Lys162, Lys217, Lys442, Lys472, and Lys578
- NX_Q04446 (NX_Q04446-1)
Modification sites at PhosphoSitePlus
- Q04446

Other Protein References for GBE1 Gene

ENSEMBL proteins:

REFSEQ proteins:

NP_000149.4

Antibodies for research

OriGene Antibodies for GBE1
- AP51790PU-N
- CF500779
- CF500801
- CF500802
- CF500803
- CF500807
- CF500829
- CF500846
- TA500779
- TA500779S
- TA500801
- TA500801S
- TA500802
- TA500802S
- TA500803
- TA500803S
- TA500807
- TA500807S
- TA500829
- TA500829S
- TA500846
- TA500846S
Custom Antibody Services

Novus Biologicals Antibodies for GBE1

Abcam antibodies for GBE1
- GBE1

Invitrogen Antibodies for GBE1 (AFLGC-GBE1)

Biorbyt antibodies for GBE1
- orb40206

Boster Bio Antibodies for GBE1
- A04694

ProSci Antibodies for GBE1
- 1,4-alpha-glucan-branching enzyme [63-981]
- 1,4-alpha-glucan-branching enzyme [22-342]
Custom Antibody Services

Browse Santa Cruz Biotechnology (SCBT) Antibodies

Browse Sino Biological Antibodies

Protein products for research

OriGene Purified Proteins for GBE1
- NM_000158
- NM_000158
- NM_000158
- NM_000158
- NM_028803
Search Origene for MassSpec and Protein Over-expression Lysates for GBE1
Origene Custom Protein Services for GBE1

Novus Biologicals proteins and lysates for GBE1

Browse ProSpec Recombinant Proteins

antibodies-online: Show 5 available GBE1 Proteins ranked by validation data
Compare Top GBE1 Proteins

Search for GBE1 Proteins at ProSci

Abcam proteins for GBE1
- GBE1

Assay products for research

antibodies-online: Show 16 available GBE1 Elisa Kits ranked by validation data
Compare Top GBE1 Elisa Kits
Quality Products:

Browse Boster Bio ELISA Kits

Browse Sino Biological Assays

Domains & Families for GBE1 Gene

Gene Families for GBE1 Gene

Human Protein Atlas (HPA):

Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Protein Domains for GBE1 Gene

InterPro:

Blocks:

Glycoside hydrolase, family 13, N-terminal

ProtoNet:

Q04446

Suggested Antigen Peptide Sequences for GBE1 Gene

GenScript: Design optimal peptide antigens:

Glycogen-branching enzyme (GLGB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q04446

UniProtKB/Swiss-Prot:

GLGB_HUMAN :

Binds its carbohydrate substrate close to the active site, but also via regions close to the N-terminus; this may result in increased affinity and therefore increased catalytic efficiency.
Belongs to the glycosyl hydrolase 13 family. GlgB subfamily.

Domain:

Binds its carbohydrate substrate close to the active site, but also via regions close to the N-terminus; this may result in increased affinity and therefore increased catalytic efficiency.

Family:

Belongs to the glycosyl hydrolase 13 family. GlgB subfamily.

Function for GBE1 Gene

Molecular function for GBE1 Gene

UniProtKB/Swiss-Prot Function:

Required for normal glycogen accumulation (PubMed:8463281, PubMed:26199317, PubMed:8613547). The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable).

GLGB_HUMAN,Q04446

UniProtKB/Swiss-Prot CatalyticActivity:

Reaction=Transfers a segment of a (1->4)-alpha-D-glucan chain to a primary hydroxy group in a similar glucan chain.; EC=2.4.1.18; Evidence={ECO:0000269|PubMed:26199317, ECO:0000269|PubMed:8613547, ECO:0000305|PubMed:8463281};.

GLGB_HUMAN,Q04446

GENATLAS Biochemistry:

amylo (1,4->1,6) trans-glucosidase,branching enzyme,glycogen catabolism

GBE1

Enzyme Numbers (IUBMB) for GBE1 Gene

EC 2.4.1.18 ⁵¹ ⁴

Phenotypes From GWAS Catalog for GBE1 Gene

Gene Ontology (GO) - Molecular Function for GBE1 Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003824	catalytic activity	IEA	--
GO:0003844	1,4-alpha-glucan branching enzyme activity	IEA,IDA	26199317
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IEA	--
GO:0005515	protein binding	IPI	24837458
GO:0016740	transferase activity	IEA	--

Phenotypes for GBE1 Gene

MGI mutant phenotypes for GBE1:

inferred from 6 alleles

GenomeRNAi human phenotypes for GBE1:

Human Phenotype Ontology for GBE1 Gene

HPO Id	HPO Name	Alternative Ids	Definition	Synonyms

Animal Models for GBE1 Gene

MGI Knock Outs for GBE1:

Gbe1 ^{Gbe1<tm1.1Hoa>}
Gbe1 ^{Gbe1<tm1a(KOMP)Wtsi>}

Animal Models for research

Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study

CRISPR products for research

Applied Biological Materials (abm): CRISPR Clones for GBE1 - Starting at $85 >
* GBE1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
* Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.

OriGene CRISPR knockouts for GBE1
- GA101752
- GA209769
- KN204152
- KN204152BN
- KN204152LP
- KN204152RB
- KN404152
- KN506337

Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GBE1

Santa Cruz Biotechnology (SCBT) CRISPR for GBE1

miRNA products for research

Search GeneCopoeia for miRNA 3'UTR Target clone products for GBE1

Browse OriGene miRNA Products For GBE1

Inhibitory RNAs for research

Origene shrna, sirna, and RNAi products in human, mouse, rat for GBE1
Browse OriGene Inhibitory RNA Products For GBE1

Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GBE1

Search Santa Cruz Biotechnology (SCBT) for GBE1 siRNA/shRNA

Clone products for research

Applied Biological Materials (abm): Clones for GBE1 - Starting at $45 >
* GBE1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
* Viral Packaging Services and High Titer Production Services also available.

OriGene clones in human,mouse,rat for GBE1
- SC209310
- MC203943
- RN217122
- SC120081
- SC320912
OriGene ORF clones in human,mouse,rat for GBE1
- MG210139
- MR210139
- MR210139L3
- MR210139L4
- RC204152
- RC204152L3
- RC204152L4
- RG204152
- RR217122
- MR210139L3V
- MR210139L4V
- RC204152L3V
- RC204152L4V
Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling

Sino Biological Human cDNA Clone for GBE1

Search Addgene for plasmids for GBE1

Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GBE1

Cell Lines for research

Browse ESI BIO Cell Lines and PureStem Progenitors for GBE1

Browse GeneCopoeia Cell Lines

VectorBuilder Stable cell line generation for GBE1

Horizon Cell Lines for GBE1
- GBE1 knockout cell line
- GBE1 knockout cell line

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for GBE1 Gene

Localization for GBE1 Gene

Subcellular locations from

COMPARTMENTS

Compartment	Confidence
cytosol	5
extracellular	4
nucleus	3
mitochondrion	2
golgi apparatus	2
plasma membrane	1
cytoskeleton	1
peroxisome	1
endoplasmic reticulum	1
endosome	1
lysosome	1

Subcellular locations from the

Human Protein Atlas (HPA)

Cytosol (2)

See all subcellular structures

Gene Ontology (GO) - Cellular Components for GBE1 Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA,IBA	21873635
GO:0005829	cytosol	TAS	--
GO:0070062	extracellular exosome	HDA	19056867

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GBE1 Gene

Pathways & Interactions for GBE1 Gene

SuperPathways for GBE1 Gene

	SuperPathway	Contained pathways
1	Glucose metabolism	Glucose metabolism .40 Glycogen synthesis .01	glycogen biosynthesis .01
2	Metabolism	Metabolic pathways .40	Metabolism .40
3	Galactose metabolism	Starch and sucrose metabolism .31	Glycogen metabolism .01
4	Glycosaminoglycan metabolism	Metabolism of carbohydrates .42
5	Glycogen Metabolism	Glycogen Metabolism -

Pathways by source for GBE1 Gene

2 BioSystems pathways for GBE1 Gene

4 Reactome pathways for GBE1 Gene

2 KEGG pathways for GBE1 Gene

1 GeneGo (Thomson Reuters) pathway for GBE1 Gene

Glycogen metabolism

UniProtKB/Swiss-Prot Q04446-GLGB_HUMAN

Pathway: Glycan biosynthesis; glycogen biosynthesis.

Interacting Proteins for GBE1 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)

Selected Interacting proteins: Q04446-GLGB_HUMAN ENSP00000410833 for GBE1 Gene via MINT STRING IID

Symbol	External ID(s)	Details
ACO1	ENSP00000309477 ²¹ P21399 ¹²⁶	STRING: ENSP00000309477 IID: # exp=1
ADI1	ENSP00000333666 ²¹ Q9BV57 ¹²⁶	STRING: ENSP00000333666 IID: # exp=1
AGL	ENSP00000294724 ²¹ P35573 ¹²⁶	STRING: ENSP00000294724 IID: # pred=1
CDA	ENSP00000364212 ²¹ P32320 ¹²⁶	STRING: ENSP00000364212 IID: # exp=1
CDK3	ENSP00000400088 ²¹ ENSP00000410561 ²¹	STRING: ENSP00000400088 STRING: ENSP00000410561

GPS-Prot Interaction Network for GBE1

Gene Ontology (GO) - Biological Process for GBE1 Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	IEA,IBA	21873635
GO:0005977	glycogen metabolic process	TAS	8613547
GO:0005978	glycogen biosynthetic process	IEA,TAS	--
GO:0006091	generation of precursor metabolites and energy	TAS	8613547
GO:0043524	negative regulation of neuron apoptotic process	IEA	--

No data available for SIGNOR curated interactions for GBE1 Gene

Drugs & Compounds for GBE1 Gene

(3) Additional Compounds for GBE1 Gene - From: Novoseek

Name	Synonyms	Role	CAS Number	PubChem IDs	PubMed IDs

Drug products for research

Browse Tocris compounds for GBE1

Browse compounds at ApexBio

Transcripts for GBE1 Gene

mRNA/cDNA for GBE1 Gene

1 REFSEQ mRNAs :

NM_000158.4

11 NCBI additional mRNA sequence :

6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

ENST00000429644 2941 nts (view in UCSC)
ENST00000477426 568 nts (view in UCSC)
ENST00000484687 863 nts (view in UCSC)
ENST00000486920 576 nts (view in UCSC)
ENST00000489715 2513 nts (view in UCSC)

CRISPR products for research

Applied Biological Materials (abm): CRISPR Clones for GBE1 - Starting at $85 >
* GBE1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
* Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.

OriGene CRISPR knockouts for GBE1
- GA101752
- GA209769
- KN204152
- KN204152BN
- KN204152LP
- KN204152RB
- KN404152
- KN506337

Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GBE1

Santa Cruz Biotechnology (SCBT) CRISPR for GBE1

miRNA products for research

Search GeneCopoeia for miRNA 3'UTR Target clone products for GBE1

Browse OriGene miRNA Products For GBE1

Inhibitory RNAs for research

Origene shrna, sirna, and RNAi products in human, mouse, rat for GBE1
Browse OriGene Inhibitory RNA Products For GBE1

Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GBE1

Search Santa Cruz Biotechnology (SCBT) for GBE1 siRNA/shRNA

Clone products for research

Applied Biological Materials (abm): Clones for GBE1 - Starting at $45 >
* GBE1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
* Viral Packaging Services and High Titer Production Services also available.

OriGene clones in human,mouse,rat for GBE1
- SC209310
- MC203943
- RN217122
- SC120081
- SC320912
OriGene ORF clones in human,mouse,rat for GBE1
- MG210139
- MR210139
- MR210139L3
- MR210139L4
- RC204152
- RC204152L3
- RC204152L4
- RG204152
- RR217122
- MR210139L3V
- MR210139L4V
- RC204152L3V
- RC204152L4V
Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling

Sino Biological Human cDNA Clone for GBE1

Search Addgene for plasmids for GBE1

Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GBE1

Alternative Splicing Database (ASD) splice patterns (SP) for GBE1 Gene

No ASD Table

Relevant External Links for GBE1 Gene

GeneLoc Exon Structure for: GBE1

Expression for GBE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GBE1 Gene

mRNA expression in normal human tissues for GBE1 Gene

mRNA differential expression in normal tissues according to GTEx for GBE1 Gene

This gene is overexpressed in Muscle - Skeletal (x6.9).

Protein differential expression in normal tissues from HIPED for GBE1 Gene

This gene is overexpressed in Nasopharynx (9.9), Uterus (7.6), and Tonsil (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GBE1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, MaxQB, and MOPED for GBE1 Gene

Integrated proteomics: cell line protein expression from ProteomicsDB, MOPED and MaxQB for GBE1 Gene

Protein tissue co-expression partners for GBE1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GBE1

SOURCE GeneReport for Unigene cluster for GBE1 Gene:

Hs.436062

Evidence on tissue expression from TISSUES for GBE1 Gene

Liver(4.6)
Nervous system(4)
Skin(2.9)
Muscle(2.9)
Heart(2.9)
Kidney(2.6)
Blood(2.6)
Eye(2.1)
Pancreas(2.1)
Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GBE1 Gene

Germ Layers:

ectoderm
endoderm
mesoderm

Systems:

cardiovascular
digestive
immune
integumentary
lymphatic
nervous
reproductive
respiratory
skeletal muscle
skeleton
urinary

Regions:

Head and neck:

brain
cerebellum
cranial nerve
ear
head
mouth
salivary gland

Thorax:

breast
esophagus
heart
heart valve
lung

Abdomen:

abdominal wall
kidney
liver
spleen
stomach

Pelvis:

penis
placenta
testicle
urinary bladder
uterus

Limb:

ankle
digit
elbow
finger
foot
hand
hip
knee
lower limb
nail
shoulder
toe
upper limb
wrist

General:

blood
blood vessel
coagulation system
peripheral nerve
peripheral nervous system
skin
spinal cord

Primer products for research

OriGene qPCR primer pairs for GBE1
- HP200143
- MP205480
OriGene qPCR primer pairs and template standards for GBE1
- HK203287
- MK203306

Gene Expression Assays for research

Applied Biosystems by Thermo Fisher Scientific TaqMan® Assays for GBE1

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for GBE1 Gene

Orthologs for GBE1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GBE1 Gene

Organism	Taxonomy	Gene	Similarity	Type	Details
Chimpanzee (Pan troglodytes)	Mammalia	GBE1 ³⁰ ³¹	99.62 (n)	OneToOne	460520 XM_516593.2 XP_516593.2 3:82999367-83274163
Dog (Canis familiaris)	Mammalia	GBE1 ³¹	92 (a)	OneToOne	31:5742992-6008285
Dog (Canis familiaris)	Mammalia	LOC478380 ³⁰	90.96 (n)		478380 XM_535555.4 XP_535555.3
Cow (Bos Taurus)	Mammalia	GBE1 ³⁰ ³¹	88.56 (n)	OneToOne	615745 NM_001122729.1 NP_001116201.1 1:28658790-28905833
Mouse (Mus musculus)	Mammalia	Gbe1 ³⁰ ¹⁷ ³¹	86.8 (n)	OneToOne	74185 NM_028803.4 NP_083079.1 70313949 16:70313949-70569716
Rat (Rattus norvegicus)	Mammalia	Gbe1 ³⁰	85.61 (n)		288333 NM_001100502.1 NP_001093972.1
Platypus (Ornithorhynchus anatinus)	Mammalia	GBE1 ³¹	85 (a)	OneToOne	Ultra388:1857162-1992210
Oppossum (Monodelphis domestica)	Mammalia	GBE1 ³¹	75 (a)	OneToOne	7:4116175-4352123
Chicken (Gallus gallus)	Aves	GBE1 ³⁰ ³¹	76.44 (n)	OneToOne	427964 XM_425536.4 XP_425536.4 1:94474405-94635350
Lizard (Anolis carolinensis)	Reptilia	GBE1 ³¹	73 (a)	OneToOne	3:156971665-157220917
Tropical Clawed Frog (Silurana tropicalis)	Amphibia	gbe1 ³⁰	74.74 (n)		100494084 XM_004912078.1 XP_004912135.1
Zebrafish (Danio rerio)	Actinopterygii	GBE1 (2 of 2) ³¹	75 (a)	OneToMany	15:7350536-7579237
		LOC559212 ³⁰	67.01 (n)		559212 XM_682528.6 XP_687620.6
		GBE1 (1 of 2) ³¹	66 (a)	OneToMany	10:24480079-24727785
African malaria mosquito (Anopheles gambiae)	Insecta	AgaP_AGAP010428 ³⁰	58 (n)		1272619 XM_311519.3 XP_311519.3
Fruit Fly (Drosophila melanogaster)	Insecta	CG33138 ³⁰ ³¹	56.77 (n)	OneToOne	326264 NM_001274012.1 NP_001260941.1 2R:9058908-9062301
Worm (Caenorhabditis elegans)	Secernentea	CELE_T04A8.7 ³⁰	57.44 (n)		3565201 NM_065560.4 NP_497961.1
Worm (Caenorhabditis elegans)	Secernentea	T04A8.7 ³¹	56 (a)	OneToOne	III:4695361-4698011
Baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	GLC3 ³⁰ ³¹	59.69 (n)	OneToOne	856705 NP_010905.1 V:133120-135234
K. Lactis Yeast (Kluyveromyces lactis)	Saccharomycetes	KLLA0A11176g ³⁰	58.31 (n)		2896528 XM_451486.1 XP_451486.1
A. gosspyii yeast (Eremothecium gossypii)	Saccharomycetes	AGOS_AEL044W ³⁰	56.18 (n)		4621011 NM_210171.1 NP_984817.1
Thale Cress (Arabidopsis thaliana)	eudicotyledons	SBE2.1 ³⁰	59.72 (n)		818212 NM_129196.3 NP_181180.1
Soybean (Glycine max)	eudicotyledons	Gma.2119 ³⁰			44511912
Rice (Oryza sativa)	Liliopsida	Os02g0528200 ³⁰	59.77 (n)		4329532 NM_001053544.1 NP_001047009.1
Rice (Oryza sativa)	Liliopsida	Os.22169 ³⁰			AF136268.1
Barley (Hordeum vulgare)	Liliopsida	Hv.7919 ³⁰			AY304541.1
Wheat (Triticum aestivum)	Liliopsida	Ta.39 ³⁰			AF286318.1
Corn (Zea mays)	Liliopsida	Zm.226 ³⁰			U17897.1
Sea Squirt (Ciona savignyi)	Ascidiacea	-- ³¹	63 (a)	OneToMany	reftig_16:1667444-1669510
		-- ³¹	51 (a)	OneToMany	reftig_0:1150459-1150857
		-- ³¹	48 (a)	OneToMany	reftig_394:23089-25810
		-- ³¹	47 (a)	OneToMany	reftig_0:1129892-1149886
		-- ³¹	47 (a)	OneToMany	reftig_26:442042-450152
		-- ³¹	47 (a)	OneToMany	reftig_0:1154273-1157655
		-- ³¹	46 (a)	OneToMany	reftig_26:468467-510148
		-- ³¹	46 (a)	OneToMany	reftig_49:2778291-2781191
		-- ³¹	46 (a)	OneToMany	reftig_49:2791779-2800215
		-- ³¹	41 (a)	OneToMany	reftig_247:185345-194745
Bread mold (Neurospora crassa)	Ascomycetes	NCU05429 ³⁰	58.26 (n)		3879400 XM_958159.2 XP_963252.2

Species where no ortholog for GBE1 was found in the sources mined by GeneCards:

Actinobacteria (Mycobacterium tuberculosis)
African clawed frog (Xenopus laevis)
Alicante grape (Vitis vinifera)
Alpha proteobacteria (Wolbachia pipientis)
Amoeba (Dictyostelium discoideum)
Archea (Pyrococcus horikoshii)
Beta proteobacteria (Neisseria meningitidis)
Chromalveolata (Phytophthora infestans)
Common water flea (Daphnia pulex)
E. coli (Escherichia coli)
Filamentous fungi (Aspergillus nidulans)
Firmicute Bacteria (Streptococcus pneumoniae)
Fission Yeast (Schizosaccharomyces pombe)
Green Algae (Chlamydomonas reinhardtii)
Honey Bee (Apis mellifera)
Loblloly Pine (Pinus taeda)
Malaria Parasite (Plasmodium falciparum)
Medicago Trunc (Medicago Truncatula)
Moss (Physcomitrella patens)
Orangutan (Pongo pygmaeus)
Pig (Sus scrofa)
Rainbow Trout (Oncorhynchus mykiss)
Rice Blast Fungus (Magnaporthe grisea)
Schistosome Parasite (Schistosoma mansoni)
Sea Anemone (Nematostella vectensis)
Sea Vase (Ciona intestinalis)
Sea Urchin (Strongylocentrotus purpuratus)
Sorghum (Sorghum bicolor)
Stem Rust Fungus (Puccinia graminis)
Sugarcane (Saccharum officinarum)
Tomato (Lycopersicon esculentum)
Toxoplasmosis (Toxoplasma gondii)
Trichoplax (Trichoplax adhaerens)

Evolution for GBE1 Gene

ENSEMBL:: Gene Tree for GBE1 (if available)
TreeFam:: Gene Tree for GBE1 (if available)
Aminode:: Evolutionary constrained regions (ECRs) for GBE1: view image

Paralogs for GBE1 Gene

SLC3A1 ⁵
SLC3A2 ⁵
AMY2B ⁵
AMY2A ⁵
AMY1A ⁵
AMY1B ⁵
AMY1C ⁵

Variants for GBE1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GBE1 Gene

SNP ID	Clinical significance and condition	Chr 03 pos	Variation	Type
774170	Benign: Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic	81,594,016(-)	T/. NM_000158.4(GBE1):c.1000= (p.Ile334=)	NO_SEQUENCE_ALTERATION
834756	Pathogenic: Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic	81,581,225(-)	G/C NM_000158.4(GBE1):c.1386C>G (p.Tyr462Ter)	NONSENSE
836518	Pathogenic: Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic	81,586,127(-)	G/A NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter)	NONSENSE
843493	Likely Pathogenic: Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic	81,642,817(-)	T/C NM_000158.4(GBE1):c.956A>G (p.His319Arg)	MISSENSE
848865	Likely Pathogenic: Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic	81,537,093(-)	T/C NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)	MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GBE1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GBE1 Gene

Variant ID	Type	Subtype	PubMed ID
dgv1386e212	CNV	loss	25503493
dgv1387e212	CNV	loss	25503493
dgv2552n106	CNV	deletion	24896259
dgv8401n54	CNV	loss	21841781
dgv8402n54	CNV	loss	21841781
dgv8403n54	CNV	loss	21841781
esv1005110	CNV	loss	20482838
esv1008470	CNV	deletion	20482838
esv1726256	CNV	deletion	17803354
esv23507	CNV	loss	19812545
esv2659520	CNV	deletion	23128226
esv2668691	CNV	deletion	23128226
esv2672095	CNV	deletion	23128226
esv2675026	CNV	deletion	23128226
esv2725581	CNV	deletion	23290073
esv2835791	CNV	deletion	24192839
esv3326	CNV	loss	18987735
esv3562135	CNV	deletion	23714750
esv3596748	CNV	loss	21293372
esv3596749	CNV	loss	21293372
esv3596750	CNV	loss	21293372
esv3596751	CNV	loss	21293372
esv3596753	CNV	loss	21293372
esv3893729	CNV	loss	25118596
esv995823	CNV	deletion	20482838
nsv478164	CNV	novel sequence insertion	20440878
nsv834749	CNV	gain	17160897
nsv967032	CNV	duplication	23825009

Variation tolerance for GBE1 Gene

Residual Variation Intolerance Score: 85% of all genes are more intolerant (likely to be disease-causing)

Gene Damage Index Score: 11.46; 92.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GBE1 Gene

Human Gene Mutation Database (HGMD): GBE1
SNPedia medical, phenotypic, and genealogical associations of SNPs for: GBE1

SNP Genotyping and Copy Number Assays for research

Applied Biosystems by Thermo Fisher Scientific TaqMan® Assays for GBE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GBE1 Gene

Disorders for GBE1 Gene

(26) MalaCards diseases for GBE1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder	Aliases	PubMed IDs
glycogen storage disease iv	gsd4	8059607
polyglucosan body neuropathy, adult form	apbn
glycogen storage disease due to glycogen branching enzyme deficiency	amylopectinosis
glycogen storage disease	glycogenoses
myoclonic epilepsy of lafora	melf

- elite association - COSMIC cancer census association via MalaCards

Search GBE1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GLGB_HUMAN

Glycogen storage disease 4 (GSD4) [MIM:232500]: A metabolic disorder characterized by the accumulation of an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver disease is not always progressive. No treatment apart from liver transplantation has been found to prevent progression of the disease. There is also a neuromuscular form of glycogen storage disease type 4 that varies in onset (perinatal, congenital, juvenile, or adult) and severity. {ECO:0000269 PubMed:10545044, ECO:0000269 PubMed:15452297, ECO:0000269 PubMed:8613547}. Note=The disease is caused by variants affecting the gene represented in this entry.
Note=Neuromuscular perinatal glycogen storage disease type 4 is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders. {ECO:0000269 PubMed:15452297}.
Polyglucosan body neuropathy, adult form (APBN) [MIM:263570]: A late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBN is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes. {ECO:0000269 PubMed:10762170}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for GBE1

Genetic Association Database: (GAD)
Human Genome Epidemiology Navigator: (HuGE)
Atlas: ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform: Open Targets Platform

Search disorders for GBE1 gene in PubMed and other databases

No data available for Genatlas for GBE1 Gene

Publications for GBE1 Gene

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. (PMID: 8613547) Bao Y … Chen YT (The Journal of clinical investigation 1996) ³ ⁴ ²³ ⁷⁴
Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast. (PMID: 8463281) Thon VJ … Cannon JF (The Journal of biological chemistry 1993) ² ³ ⁴ ²³
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). (PMID: 15452297) Bruno C … Minetti C (Neurology 2004) ³ ⁴ ²³
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. (PMID: 10762170) Ziemssen F … Vorgerd M (Annals of neurology 2000) ³ ⁴ ²³
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. (PMID: 10545044) Bruno C … DiMauro S (Neuromuscular disorders : NMD 1999) ³ ⁴ ²³