Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2632
Gene name Gene Name - the full gene name approved by the HGNC.	1,4-alpha-glucan branching enzyme 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GBE1
Synonyms (NCBI Gene) Gene synonyms aliases	APBD, GBE, GSD4
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p12.2
Summary Summary of gene provided in NCBI Entrez 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 ch

Show/Hide all(39)

SNP ID	Visualize variation	Clinical significance	Consequence
rs36099971	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs80338671	T>C,G	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs80338672	G>A	Pathogenic	Missense variant, coding sequence variant
rs80338673	C>T	Pathogenic	Missense variant, coding sequence variant
rs137852886	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs137852887	A>T	Pathogenic	Missense variant, coding sequence variant
rs137852888	G>A,C	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs137852889	T>C	Pathogenic	Missense variant, coding sequence variant
rs137852890	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs137852891	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs137852892	C>G	Pathogenic	Missense variant, coding sequence variant
rs137852893	G>A	Pathogenic	Missense variant, coding sequence variant
rs137852894	C>T	Pathogenic	Stop gained, coding sequence variant
rs139882066	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant
rs192044702	A>G	Pathogenic	Splice donor variant
rs201958741	C>T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs369574719	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs372821643	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs397515342	C>T	Pathogenic	Splice acceptor variant
rs397515343	C>T	Pathogenic	Splice donor variant
rs397515344	C>G	Pathogenic	Intron variant
rs539203557	A>C,G	Likely-pathogenic	Splice donor variant
rs552094593	G>A,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs758504480	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs763016962	C>A	Pathogenic	Splice acceptor variant
rs766935302	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs770427750	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs774465102	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs869312919	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs869320698	CCACCACAC>ACCTGTCATGTAAAAAACA	Pathogenic	Intron variant
rs886058900	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057517315	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553683560	C>A	Pathogenic	Stop gained, coding sequence variant
rs1553684545	T>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1553690406	C>A	Pathogenic	Stop gained, coding sequence variant
rs1559637815	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1575782181	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1576137368	AGA>-	Pathogenic	Coding sequence variant, inframe deletion
rs1576183537	A>G	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(90)

miRTarBase ID	miRNA	Experiments
MIRT1013779	hsa-miR-1256	CLIP-seq
MIRT1013780	hsa-miR-1261	CLIP-seq
MIRT1013781	hsa-miR-193a-3p	CLIP-seq
MIRT1013782	hsa-miR-193b	CLIP-seq
MIRT1013783	hsa-miR-3138	CLIP-seq
MIRT1013784	hsa-miR-3200-3p	CLIP-seq
MIRT1013785	hsa-miR-3201	CLIP-seq
MIRT1013786	hsa-miR-3662	CLIP-seq
MIRT1013787	hsa-miR-3671	CLIP-seq
MIRT1013788	hsa-miR-3681	CLIP-seq
MIRT1013789	hsa-miR-4460	CLIP-seq
MIRT1013790	hsa-miR-4499	CLIP-seq
MIRT1013791	hsa-miR-4698	CLIP-seq
MIRT1013792	hsa-miR-4719	CLIP-seq
MIRT1013793	hsa-miR-4720-5p	CLIP-seq
MIRT1013794	hsa-miR-4724-3p	CLIP-seq
MIRT1013795	hsa-miR-4727-3p	CLIP-seq
MIRT1013796	hsa-miR-4791	CLIP-seq
MIRT1013797	hsa-miR-4799-3p	CLIP-seq
MIRT1013798	hsa-miR-485-3p	CLIP-seq
MIRT1013799	hsa-miR-548u	CLIP-seq
MIRT1013800	hsa-miR-556-3p	CLIP-seq
MIRT1013801	hsa-miR-607	CLIP-seq
MIRT1013802	hsa-miR-656	CLIP-seq
MIRT1013803	hsa-miR-892b	CLIP-seq
MIRT2000288	hsa-miR-135a	CLIP-seq
MIRT2000289	hsa-miR-135b	CLIP-seq
MIRT2000290	hsa-miR-4305	CLIP-seq
MIRT2000291	hsa-miR-4422	CLIP-seq
MIRT2000292	hsa-miR-4504	CLIP-seq
MIRT2000293	hsa-miR-4645-3p	CLIP-seq
MIRT2000294	hsa-miR-4666-5p	CLIP-seq
MIRT2000295	hsa-miR-4742-3p	CLIP-seq
MIRT2000296	hsa-miR-4766-5p	CLIP-seq
MIRT2000297	hsa-miR-4778-5p	CLIP-seq
MIRT2000298	hsa-miR-542-3p	CLIP-seq
MIRT2000299	hsa-miR-548n	CLIP-seq
MIRT2000300	hsa-miR-548t	CLIP-seq
MIRT2000301	hsa-miR-549	CLIP-seq
MIRT2000302	hsa-miR-630	CLIP-seq
MIRT2000288	hsa-miR-135a	CLIP-seq
MIRT2000289	hsa-miR-135b	CLIP-seq
MIRT2233721	hsa-miR-4275	CLIP-seq
MIRT2000290	hsa-miR-4305	CLIP-seq
MIRT2000301	hsa-miR-549	CLIP-seq
MIRT2000296	hsa-miR-4766-5p	CLIP-seq
MIRT1013779	hsa-miR-1256	CLIP-seq
MIRT1013781	hsa-miR-193a-3p	CLIP-seq
MIRT1013782	hsa-miR-193b	CLIP-seq
MIRT1013793	hsa-miR-4720-5p	CLIP-seq
MIRT1013797	hsa-miR-4799-3p	CLIP-seq
MIRT1013803	hsa-miR-892b	CLIP-seq
MIRT1013783	hsa-miR-3138	CLIP-seq
MIRT2537582	hsa-miR-3143	CLIP-seq
MIRT1013787	hsa-miR-3671	CLIP-seq
MIRT1013788	hsa-miR-3681	CLIP-seq
MIRT2537583	hsa-miR-4307	CLIP-seq
MIRT2537584	hsa-miR-4452	CLIP-seq
MIRT1013789	hsa-miR-4460	CLIP-seq
MIRT2537585	hsa-miR-4662a-5p	CLIP-seq
MIRT2537586	hsa-miR-4676-5p	CLIP-seq
MIRT1013791	hsa-miR-4698	CLIP-seq
MIRT1013795	hsa-miR-4727-3p	CLIP-seq
MIRT2537587	hsa-miR-4803	CLIP-seq
MIRT2537588	hsa-miR-548p	CLIP-seq
MIRT2537589	hsa-miR-575	CLIP-seq
MIRT1013801	hsa-miR-607	CLIP-seq
MIRT1013802	hsa-miR-656	CLIP-seq
MIRT1013779	hsa-miR-1256	CLIP-seq
MIRT1013781	hsa-miR-193a-3p	CLIP-seq
MIRT1013782	hsa-miR-193b	CLIP-seq
MIRT1013783	hsa-miR-3138	CLIP-seq
MIRT2537582	hsa-miR-3143	CLIP-seq
MIRT1013787	hsa-miR-3671	CLIP-seq
MIRT1013788	hsa-miR-3681	CLIP-seq
MIRT2537583	hsa-miR-4307	CLIP-seq
MIRT2537584	hsa-miR-4452	CLIP-seq
MIRT1013789	hsa-miR-4460	CLIP-seq
MIRT2537585	hsa-miR-4662a-5p	CLIP-seq
MIRT2537586	hsa-miR-4676-5p	CLIP-seq
MIRT1013791	hsa-miR-4698	CLIP-seq
MIRT1013793	hsa-miR-4720-5p	CLIP-seq
MIRT1013795	hsa-miR-4727-3p	CLIP-seq
MIRT1013797	hsa-miR-4799-3p	CLIP-seq
MIRT2537587	hsa-miR-4803	CLIP-seq
MIRT2537588	hsa-miR-548p	CLIP-seq
MIRT2537589	hsa-miR-575	CLIP-seq
MIRT1013801	hsa-miR-607	CLIP-seq
MIRT1013802	hsa-miR-656	CLIP-seq
MIRT1013803	hsa-miR-892b	CLIP-seq

Show/Hide all(26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0003844	Function	1,4-alpha-glucan branching enzyme activity	EXP	8613547
GO:0003844	Function	1,4-alpha-glucan branching enzyme activity	IBA
GO:0003844	Function	1,4-alpha-glucan branching enzyme activity	IDA	26199317
GO:0003844	Function	1,4-alpha-glucan branching enzyme activity	IEA
GO:0003844	Function	1,4-alpha-glucan branching enzyme activity	TAS	8613547
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0005515	Function	Protein binding	IPI	24837458, 36217029
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0005977	Process	Glycogen metabolic process	TAS	8613547
GO:0005978	Process	Glycogen biosynthetic process	IBA
GO:0005978	Process	Glycogen biosynthetic process	IDA	26199317
GO:0005978	Process	Glycogen biosynthetic process	IEA
GO:0005978	Process	Glycogen biosynthetic process	TAS
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	8613547
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0043169	Function	Cation binding	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

MIM	HGNC	e!Ensembl
607839	4180	ENSG00000114480

Protein

UniProt ID

Q04446

Protein name

1,4-alpha-glucan-branching enzyme (EC 2.4.1.18) (Brancher enzyme) (Glycogen-branching enzyme)

Protein function

Glycogen-branching enzyme participates in the glycogen biosynthetic process along with glycogenin and glycogen synthase. Generates alpha-1,6-glucosidic branches from alpha-1,4-linked glucose chains, to increase solubility of the glycogen polymer

PDB

4BZY , 5CLT , 5CLW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02922	CBM_48	75 → 161	Carbohydrate-binding module 48 (Isoamylase N-terminal domain)	Domain
PF00128	Alpha-amylase	220 → 338	Alpha amylase, catalytic domain	Domain
PF02806	Alpha-amylase_C	603 → 698	Alpha amylase, C-terminal all-beta domain	Domain

Sequence

MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIG
ENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYG
KWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDP
EHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAI
MEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGL
NMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVT
SMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLVHTLCPDSITIAEDVSGMPAL
CSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESH
DQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMG
NEFGHPEWLDFPRKGNNESYHYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAP
QAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGTALPGKFKIVLDSDAAEYGGH
QRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALILQNVDLPN

Sequence length

702

Interactions

View interactions

	KEGG		Reactome
	Starch and sucrose metabolism Metabolic pathways		Glycogen synthesis Glycogen storage disease type IV (GBE1)

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Glycogen Storage Disease	Glycogen storage disease, type IV, glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form, Glycogen storage disease IV, combined hepatic and myopathic	rs192044702, rs777589783, rs137852890, rs869312919, rs539203557, rs397515342, rs137852891, rs766935302, rs1576183537, rs80338671, rs1575782181, rs886058900, rs1576137368, rs137852886, rs137852892 View all (19 more)	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Cervical Cancer	Cervical cancer	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Neuroticism	Neuroticism	N/A	N/A	GWAS

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	28423489, 31221150, 32439898
Atrophy	Associate	23034915
Autism Spectrum Disorder	Associate	34633740
Autistic Disorder	Associate	34633740
Carcinogenesis	Associate	19911042
Cardiomyopathy Dilated	Associate	31527204
Glycogen Storage Disease	Associate	22899091, 33782433
Glycogen Storage Disease Type IV	Associate	17452581, 23034915, 24248152, 26199317, 31527204, 8613547
Hypoxia	Associate	28423489, 31221150
Hypoxia	Stimulate	32439898
Hypoxia Ischemia Brain	Associate	38545656
Inflammation	Associate	28355295
Leukoencephalopathies	Associate	34626176
Liver Failure	Associate	24248152
Lung Neoplasms	Associate	28423489, 31221150
Multiple Sclerosis	Associate	24248152
Muscular Atrophy Spinal	Associate	23034915
Neoplasm Metastasis	Associate	27974698, 32439898
Neoplasms	Inhibit	31221150
Neoplasms	Associate	32439898
Nervous System Diseases	Associate	24248152
Neurologic Manifestations	Associate	24248152
Neuromuscular Diseases	Associate	26578207
Neuromuscular Manifestations	Associate	8613547
Obesity	Inhibit	26356733
Paraplegia	Associate	23034915
Polyglucosan Body Disease Adult Form	Associate	17994551, 23034915, 24248152, 26199317, 28630259
Spinocerebellar Ataxias	Associate	24248152
Tuberculosis Pulmonary	Associate	28355295
Urinary Bladder Neurogenic	Associate	23034915
Uterine Cervical Neoplasms	Associate	19911042

GBE1 (1,4-alpha-glucan branching enzyme 1)