ENSG00000114480


Homo sapiens

Features
Gene ID: ENSG00000114480
  
Biological name :GBE1
  
Synonyms : 1,4-alpha-glucan branching enzyme 1 / GBE1 / Q04446
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: p12.2
Gene start: 81489699
Gene end: 81762161
  
Corresponding Affymetrix probe sets: 203282_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000410833
Ensembl peptide - ENSP00000419638
RefSeq - NM_000158
RefSeq Peptide - NP_000149
swissprot - E9PGM4
swissprot - Q04446
Ensembl - ENSG00000114480
  
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gbe1aENSDARG00000029051Danio rerio
 gbe1bENSDARG00000099524Danio rerio
 GBE1ENSGALG00000042771Gallus gallus
 Gbe1ENSMUSG00000022707Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR004193  Glycoside hydrolase, family 13, N-terminal
 IPR006047  Glycosyl hydrolase, family 13, catalytic domain
 IPR006048  Alpha-amylase/branching enzyme, C-terminal all beta
 IPR013783  Immunoglobulin-like fold
 IPR014756  Immunoglobulin E-set
 IPR017853  Glycoside hydrolase superfamily
 IPR037439  1,4-alpha-glucan-branching enzyme


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0005977 glycogen metabolic process TAS
 biological_processGO:0005978 glycogen biosynthetic process IEA
 biological_processGO:0006091 generation of precursor metabolites and energy TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0003844 1,4-alpha-glucan branching enzyme activity IEA
 molecular_functionGO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA
 molecular_functionGO:0030246 carbohydrate binding IEA
 molecular_functionGO:0043169 cation binding IEA
 molecular_functionGO:0102752 1,4-alpha-glucan branching enzyme activity (using a glucosylated glycogenin as primer for glycogen synthesis) IEA


Pathways (from Reactome)
Pathway description
Glycogen synthesis
Glycogen storage disease type IV (GBE1)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000104812 GYS1 / P13807 / glycogen synthase 1  / reaction
 ENSG00000111713 GYS2 / P54840 / glycogen synthase 2  / reaction
 ENSG00000163754 GYG1 / P46976 / glycogenin 1  / reaction
 ENSG00000056998 GYG2 / O15488 / glycogenin 2  / reaction






 

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