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

Identity

Alias_namesglucan (1,4-alpha-), branching enzyme 1
Other aliasAPBD
GBE
GSD4
HGNC (Hugo) GBE1
LocusID (NCBI) 2632
Atlas_Id 63722
Location 3p12.2  [Link to chromosome band 3p12]
Location_base_pair Starts at 81489699 and ends at 81761799 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GBE1 (3p12.2) / ITGA3 (17q21.33)GBE1 (3p12.2) / KIF20B (10q23.31)GBE1 (3p12.2) / MAGED2 (Xp11.21)
GBE1 (3p12.2) / ZNF385D (3p24.3)KIF20B (10q23.31) / GBE1 (3p12.2)PLCB4 (20p12.2) / GBE1 (3p12.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GBE1   4180
Cards
Entrez_Gene (NCBI)GBE1  2632  1,4-alpha-glucan branching enzyme 1
AliasesAPBD; GBE; GSD4
GeneCards (Weizmann)GBE1
Ensembl hg19 (Hinxton)ENSG00000114480 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000114480 [Gene_View]  chr3:81489699-81761799 [Contig_View]  GBE1 [Vega]
ICGC DataPortalENSG00000114480
TCGA cBioPortalGBE1
AceView (NCBI)GBE1
Genatlas (Paris)GBE1
WikiGenes2632
SOURCE (Princeton)GBE1
Genetics Home Reference (NIH)GBE1
Genomic and cartography
GoldenPath hg38 (UCSC)GBE1  -     chr3:81489699-81761799 -  3p12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GBE1  -     3p12.2   [Description]    (hg19-Feb_2009)
EnsemblGBE1 - 3p12.2 [CytoView hg19]  GBE1 - 3p12.2 [CytoView hg38]
Mapping of homologs : NCBIGBE1 [Mapview hg19]  GBE1 [Mapview hg38]
OMIM232500   263570   607839   
Gene and transcription
Genbank (Entrez)AB209731 AK125918 AK297939 AK300620 AK312245
RefSeq transcript (Entrez)NM_000158
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GBE1
Cluster EST : UnigeneHs.436062 [ NCBI ]
CGAP (NCI)Hs.436062
Alternative Splicing GalleryENSG00000114480
Gene ExpressionGBE1 [ NCBI-GEO ]   GBE1 [ EBI - ARRAY_EXPRESS ]   GBE1 [ SEEK ]   GBE1 [ MEM ]
Gene Expression Viewer (FireBrowse)GBE1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2632
GTEX Portal (Tissue expression)GBE1
Human Protein AtlasENSG00000114480-GBE1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ04446   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ04446  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ04446
Splice isoforms : SwissVarQ04446
PhosPhoSitePlusQ04446
Domains : Interpro (EBI)A-amylase/branching_C    GlgB    Glyco_hydro_13_cat_dom    Glyco_hydro_13_N    Glyco_hydro_b    Glyco_hydro_catalytic_dom    Glycoside_hydrolase_SF    Ig-like_fold    Ig_E-set   
Domain families : Pfam (Sanger)Alpha-amylase (PF00128)    Alpha-amylase_C (PF02806)    CBM_48 (PF02922)   
Domain families : Pfam (NCBI)pfam00128    pfam02806    pfam02922   
Domain families : Smart (EMBL)Aamy (SM00642)  
Conserved Domain (NCBI)GBE1
DMDM Disease mutations2632
Blocks (Seattle)GBE1
PDB (SRS)4BZY    5CLT    5CLW   
PDB (PDBSum)4BZY    5CLT    5CLW   
PDB (IMB)4BZY    5CLT    5CLW   
PDB (RSDB)4BZY    5CLT    5CLW   
Structural Biology KnowledgeBase4BZY    5CLT    5CLW   
SCOP (Structural Classification of Proteins)4BZY    5CLT    5CLW   
CATH (Classification of proteins structures)4BZY    5CLT    5CLW   
SuperfamilyQ04446
Human Protein Atlas [tissue]ENSG00000114480-GBE1 [tissue]
Peptide AtlasQ04446
HPRD01985
IPIIPI00296635   IPI01014616   IPI01015979   IPI00789251   
Protein Interaction databases
DIP (DOE-UCLA)Q04446
IntAct (EBI)Q04446
FunCoupENSG00000114480
BioGRIDGBE1
STRING (EMBL)GBE1
ZODIACGBE1
Ontologies - Pathways
QuickGOQ04446
Ontology : AmiGO1,4-alpha-glucan branching enzyme activity  1,4-alpha-glucan branching enzyme activity  hydrolase activity, hydrolyzing O-glycosyl compounds  protein binding  cytosol  glycogen metabolic process  glycogen biosynthetic process  glycogen biosynthetic process  glycogen biosynthetic process  generation of precursor metabolites and energy  carbohydrate binding  cation binding  extracellular exosome  
Ontology : EGO-EBI1,4-alpha-glucan branching enzyme activity  1,4-alpha-glucan branching enzyme activity  hydrolase activity, hydrolyzing O-glycosyl compounds  protein binding  cytosol  glycogen metabolic process  glycogen biosynthetic process  glycogen biosynthetic process  glycogen biosynthetic process  generation of precursor metabolites and energy  carbohydrate binding  cation binding  extracellular exosome  
Pathways : KEGGStarch and sucrose metabolism   
NDEx NetworkGBE1
Atlas of Cancer Signalling NetworkGBE1
Wikipedia pathwaysGBE1
Orthology - Evolution
OrthoDB2632
GeneTree (enSembl)ENSG00000114480
Phylogenetic Trees/Animal Genes : TreeFamGBE1
HOVERGENQ04446
HOGENOMQ04446
Homologs : HomoloGeneGBE1
Homology/Alignments : Family Browser (UCSC)GBE1
Gene fusions - Rearrangements
Fusion: Tumor Portal GBE1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGBE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GBE1
dbVarGBE1
ClinVarGBE1
1000_GenomesGBE1 
Exome Variant ServerGBE1
ExAC (Exome Aggregation Consortium)ENSG00000114480
GNOMAD BrowserENSG00000114480
Genetic variants : HAPMAP2632
Genomic Variants (DGV)GBE1 [DGVbeta]
DECIPHERGBE1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGBE1 
Mutations
ICGC Data PortalGBE1 
TCGA Data PortalGBE1 
Broad Tumor PortalGBE1
OASIS PortalGBE1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGBE1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGBE1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GBE1
DgiDB (Drug Gene Interaction Database)GBE1
DoCM (Curated mutations)GBE1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GBE1 (select a term)
intoGenGBE1
Cancer3DGBE1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM232500    263570    607839   
Orphanet18528    21330    21331    21328    21329    21327    21326    21325   
MedgenGBE1
Genetic Testing Registry GBE1
NextProtQ04446 [Medical]
TSGene2632
GENETestsGBE1
Target ValidationGBE1
Huge Navigator GBE1 [HugePedia]
snp3D : Map Gene to Disease2632
BioCentury BCIQGBE1
ClinGenGBE1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2632
Chemical/Pharm GKB GenePA28594
Clinical trialGBE1
Miscellaneous
canSAR (ICR)GBE1 (select the gene name)
Probes
Litterature
PubMed49 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGBE1
EVEXGBE1
GoPubMedGBE1
iHOPGBE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 11:48:48 CET 2017

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