• Gene id: 2632

Gene Summary

• Gene Symbol: GBE1   Gene   UCSC   Ensembl
• Aliases: APBD, GBE, GSD4
• Gene name: 1,4-alpha-glucan branching enzyme 1
• Alternate names: 1,4-alpha-glucan-branching enzyme, 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,
• Gene location: 3p12.2 (231241209: 231277972)     Exons: 17     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 607839

Protein Summary

• Protein general information: Q04446  
  • Name: 1,4 alpha glucan branching enzyme (EC 2.4.1.18) (Brancher enzyme) (Glycogen branching enzyme)
  • Length: 702  
  • Mass: 80474
• Sequence:

  MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFSRGYES
  FGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKS
  GEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLP
  RIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGL
  NMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVTSMLYHHHGVGQGFSG
  DYSEYFGLQVDEDALTYLMLANHLVHTLCPDSITIAEDVSGMPALCSPISQGGGGFDYRLAMAIPDKWIQLLKEF
  KDEDWNMGDIVYTLTNRRYLEKCIAYAESHDQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGIQLHKMIRL
  ITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESYHYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAP
  QAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGTALPGKFKIVLDSDAAEYGGHQRLDHSTDFFSEAFE
  HNGRPYSLLVYIPSRVALILQNVDLPN

• Structural information:
  • Interpro: IPR006048  IPR037439  IPR006047  IPR004193  IPR013780   IPR017853  IPR013783  IPR014756  
  • PDB: 4BZY 5CLT 5CLW
  • PDBsum: 4BZY 5CLT 5CLW
  • STRING: ENSP00000410833
• Other Databases: GeneCards:  GBE1  Malacards:  GBE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005978	glycogen biosynthetic process	IBA	biological process
GO:0005975	carbohydrate metabolic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0003844	1,4-alpha-glucan branching enzyme activity	IBA	molecular function
GO:0005978	glycogen biosynthetic process	IDA	biological process
GO:0003844	1,4-alpha-glucan branching enzyme activity	IDA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0005978	glycogen biosynthetic process	IEA	biological process
GO:0043169	cation binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0003844	1,4-alpha-glucan branching enzyme activity	IEA	molecular function
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IEA	molecular function
GO:0005978	glycogen biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0003844	1,4-alpha-glucan branching enzyme activity	TAS	molecular function
GO:0005977	glycogen metabolic process	TAS	biological process
GO:0006091	generation of precursor metabolites and energy	TAS	biological process
GO:0102752	1,4-alpha-glucan branching enzyme activity (using a glucosylated glycogenin as primer for glycogen synthesis)	IEA	molecular function
GO:0003844	1,4-alpha-glucan branching enzyme activity	IEA	molecular function
GO:0003844	1,4-alpha-glucan branching enzyme activity	EXP	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005978	glycogen biosynthetic process	TAS	biological process
GO:0005978	glycogen biosynthetic process	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00500	Starch and sucrose metabolism

Diseases

Associated diseases	References
Glycogen storage disease	KEGG:H00069
Muscle glycogen storage disease	KEGG:H01762
Hepatic glycogen storage disease	KEGG:H01760
Glycogen storage disease type IV	KEGG:H01942
Glycogen storage disease	KEGG:H00069
Muscle glycogen storage disease	KEGG:H01762
Hepatic glycogen storage disease	KEGG:H01760
Glycogen storage disease type IV	KEGG:H01942
Glycogen storage disease	PMID:8613547
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq