EuRBPDB

Description

Ensembl ID: ENSG00000114480 (Gene tree)
Gene ID: 2632
Gene Symbol: GBE1
Alias: N
Full Name: 1,4-alpha-glucan branching enzyme 1
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Minus strand
Length: 272,463 bases
Position: chr3:81,489,699-81,762,161
Accession: 4180
RBP type: non-canonical RBP
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]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
29431736	Capturing the interactome of newly transcribed RNA	PolyT-RICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
29431736	Capturing the interactome of newly transcribed RNA	RICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & MCF10A	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000484687	GBE1-203	863	-	-	- (aa)	-	-
ENST00000498468	GBE1-206	752	-	-	- (aa)	-	-
ENST00000477426	GBE1-202	568	-	-	- (aa)	-	-
ENST00000489715	GBE1-205	2513	-	ENSP00000419638	661 (aa)	-	E9PGM4
ENST00000486920	GBE1-204	576	-	-	- (aa)	-	-
ENST00000429644	GBE1-201	3461	-	ENSP00000410833	702 (aa)	-	Q04446

Gene Model

Pathways

Pathway ID	Pathway Name	Source
hsa00500	Starch and sucrose metabolism	KEGG
hsa01100	Metabolic pathways	KEGG

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000114480	Triglycerides	2.84418212615349E-6	17903299
ENSG00000114480	Aspartate Aminotransferases	9.148376490661E-7	17903293
ENSG00000114480	Aspartate Aminotransferases	2.30136133646555E-6	17903293
ENSG00000114480	Language Tests	4.8814000E-005	-
ENSG00000114480	Child Development Disorders, Pervasive	5.5567000E-005	-
ENSG00000114480	Interleukin-18	3.9310000E-005	-
ENSG00000114480	Body Mass Index	2E-7	25673413
ENSG00000114480	Body Mass Index	3E-8	25673413
ENSG00000114480	Body Mass Index	2E-8	25673413
ENSG00000114480	Waist Circumference	2E-8	25673412

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000114480	rs3849570	3	81742961	A	Waist circumference	25673412	[0.014-0.029] unit increase	0.0214	EFO_0004342
ENSG00000114480	rs13095389	3	81726884	?	Reaction time	29844566	[0.0043-0.011] unit increase	0.0076379	EFO_0008393
ENSG00000114480	rs6800135	3	81601337	?	Adolescent idiopathic scoliosis	30019117			EFO_0005423
ENSG00000114480	rs3772882	3	81759451	?	Body mass index	30595370			EFO_0004340
ENSG00000114480	rs3772912	3	81649330	?	Neuroticism	30595370			EFO_0007660

Protein-Protein Interaction (PPI)

* RBP PPI network refers to all genes directly bind to RBP

Orthologs identified by RBPome

Ensembl ID	Gene Symbol	Coverage	Identiy	Ortholog	Gene Symbol	Coverage	Identiy	Species
ENSG00000114480	GBE1	99	62.215	FBgn0053138	AGBE	99	61.201	Drosophila_melanogaster

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0003844	1,4-alpha-glucan branching enzyme activity	8613547.	EXP	Function
GO:0003844	1,4-alpha-glucan branching enzyme activity	21873635.	IBA	Function
GO:0003844	1,4-alpha-glucan branching enzyme activity	26199317.	IDA	Function
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	-	IEA	Function
GO:0005515	protein binding	24837458.	IPI	Function
GO:0005829	cytosol	-	TAS	Component
GO:0005975	carbohydrate metabolic process	21873635.	IBA	Process
GO:0005977	glycogen metabolic process	8613547.	TAS	Process
GO:0005978	glycogen biosynthetic process	21873635.	IBA	Process
GO:0005978	glycogen biosynthetic process	26199317.	IDA	Process
GO:0005978	glycogen biosynthetic process	-	IEA	Process
GO:0005978	glycogen biosynthetic process	-	TAS	Process
GO:0006091	generation of precursor metabolites and energy	8613547.	TAS	Process
GO:0043169	cation binding	-	IEA	Function
GO:0070062	extracellular exosome	19056867.23533145.	HDA	Component
GO:0102752	1,4-alpha-glucan branching enzyme activity (using a glucosylated glycogenin as primer for glycogen synthesis)	-	IEA	Function