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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GBE1 Gene

protein-coding   GIFtS: 66
GCID: GC03M081621

Glucan (1,4-Alpha-), Branching Enzyme 1

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Glucan (1,4-Alpha-), Branching Enzyme 11 2     1,4-Alpha-Glucan-Branching Enzyme2
Glycogen Branching Enzyme1 2     APBD2
Brancher Enzyme2 3     GBE2
Glycogen-Branching Enzyme2 3     GSD42
EC 2.4.1.183 8     Amylo-(1,4 To 1,6) Transglucosidase2
Andersen Disease1     Amylo-(1,4 To 1,6) Transglycosylase2
Glycogen Storage Disease Type IV1     

External Ids:    HGNC: 41801   Entrez Gene: 26322   Ensembl: ENSG000001144807   OMIM: 6078395   UniProtKB: Q044463   

Export aliases for GBE1 gene to outside databases

Previous GC identifers: GC03M079179 GC03M081224 GC03M081344 GC03M081459


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GBE1 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 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)

GeneCards Summary for GBE1 Gene: 
GBE1 (glucan (1,4-alpha-), branching enzyme 1) is a protein-coding gene. Diseases associated with GBE1 include adult polyglucosan body disease, and glycogen storage disease iv, and among its related super-pathways are Glycogen synthesis and Metabolic pathways. GO annotations related to this gene include 1,4-alpha-glucan branching enzyme activity and cation binding.

UniProtKB/Swiss-Prot: GLGB_HUMAN, Q04446
Function: Required for sufficient glycogen accumulation. The alpha 1-6 branches of glycogen play an important role
in increasing the solubility of the molecule and, consequently, in reducing the osmotic pressure within cells

Gene Wiki entry for GBE1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_022459.15  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GBE1 gene promoter:
         GR   AP-1   ATF-2   POU6F1 (c2)   Evi-1   POU2F1a   STAT3   Chx10   c-Jun   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGBE1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GBE1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GBE1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p12.3   Ensembl cytogenetic band:  3p12.2   HGNC cytogenetic band: 3p12.2

GBE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GBE1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M081621:  view genomic region     (about GC identifiers)

Start:
81,538,850 bp from pter      End:
81,811,312 bp from pter
Size:
272,463 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GLGB_HUMAN, Q04446 (See protein sequence)
Recommended Name: 1,4-alpha-glucan-branching enzyme  
Size: 702 amino acids; 80474 Da
Subunit: Monomer
Secondary accessions: B3KWV3 Q96EN0

Explore the universe of human proteins at neXtProt for GBE1: NX_Q04446

Explore proteomics data for GBE1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q04446

  • 4/22 DME Specific Peptides for GBE1 (Q04446) (see all 22)
     FDYRLAM  HSHASKN  LILQNVD  YYASFGY 

    GBE1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GBE1 Protein Expression
    REFSEQ proteins: NP_000149.3  
    ENSEMBL proteins: 
     ENSP00000410833   ENSP00000419638  
    Reactome Protein details: Q04446
    Human Recombinant Protein Products for GBE1: 
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    Cloud-Clone Corp. Proteins for GBE1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    GBE1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for GBE1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/10 InterPro protein domains (see all 10):
     IPR004193 Glyco_hydro_13_N
     IPR014756 Ig_E-set
     IPR006048 A-amylase_b_C
     IPR017853 Glycoside_hydrolase_SF
     IPR013783 Ig-like_fold

    Graphical View of Domain Structure for InterPro Entry Q04446

    ProtoNet protein and cluster: Q04446

    1 Blocks protein domain: IPB004193 Glycoside hydrolase

    UniProtKB/Swiss-Prot: GLGB_HUMAN, Q04446
    Similarity: Belongs to the glycosyl hydrolase 13 family. GlgB subfamily


    GBE1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GLGB_HUMAN, Q04446
    Function: Required for sufficient glycogen accumulation. The alpha 1-6 branches of glycogen play an important role
    in increasing the solubility of the molecule and, consequently, in reducing the osmotic pressure within cells
    Catalytic activity: Transfers a segment of a (1->4)-alpha-D-glucan chain to a primary hydroxy group in a similar
    glucan chain

         Genatlas biochemistry entry for GBE1:
    amylo (1,4->1,6) trans-glucosidase,branching enzyme,glycogen catabolism

         Enzyme Number (IUBMB): EC 2.4.1.181 2

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:00038441,4-alpha-glucan branching enzyme activity IEA--
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds IEA--
    GO:0043169cation binding IEA--
         
    GBE1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for GBE1:
     Decreased POU5F1-GFP protein e  G0/1 arrest  Increased S DNA content 

         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Gbe1):
     cardiovascular system  cellular  homeostasis/metabolism  liver/biliary system  mortality/aging 
     muscle  nervous system  respiratory system 

    GBE1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gbe1tm1.1Hoa for GBE1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GBE1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GBE1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GBE1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GBE1 

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    hsa-miR-144 hsa-miR-7-1* hsa-miR-7-2* hsa-miR-205* hsa-miR-32*
    SwitchGear 3'UTR luciferase reporter plasmidGBE1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GBE1 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1glycogen biosynthesis II (from UDP-D-Glucose)
    glycogen biosynthesis II (from UDP-D-Glucose)0.88
    Glycogen synthesis0.88
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Glucose metabolism
    Glucose metabolism0.50
    4MPS IIIC - Sanfilippo syndrome C
    Metabolism of carbohydrates0.48
    5Glucuronidation
    Starch and sucrose metabolism0.41

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for GBE1
        Glycogen metabolism


    1 GeneGo (Thomson Reuters) Pathway for GBE1
        Glycogen metabolism

    2 BioSystems Pathways for GBE1
        Glycogen Metabolism
    glycogen biosynthesis II (from UDP-D-Glucose)

    4        Reactome Pathways for GBE1
        Metabolism of carbohydrates
    Metabolism
    Glucose metabolism
    Glycogen synthesis


    2         Kegg Pathways  (Kegg details for GBE1):
        Starch and sucrose metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: GLGB_HUMAN, Q04446
    Pathway: Glycan biosynthesis; glycogen biosynthesis


    GBE1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GBE1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/49 Interacting proteins for GBE1 (Q044462, 3 ENSP000004108334) via UniProtKB, MINT, STRING, and/or I2D (see all 49)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005977glycogen metabolic process TAS8613547
    GO:0005978glycogen biosynthetic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006091generation of precursor metabolites and energy TAS8613547

    GBE1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GBE1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GBE1 (GLGB)

    3 Novoseek inferred chemical compound relationships for GBE1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 84.9 135 12501999 (2), 16528737 (2), 17257876 (2), 17915577 (2) (see all 45)
    starch 39.4 2 8455548 (1), 8136030 (1)
    polysaccharide 32.9 4 15452297 (1), 8136030 (1), 17915577 (1)

    Search CenterWatch for drugs/clinical trials and news about GBE1 / GLGB

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GBE1 gene: 
    NM_000158.3  

    Unigene Cluster for GBE1:

    Glucan (1,4-alpha-), branching enzyme 1
    Hs.436062  [show with all ESTs]
    Unigene Representative Sequence: AK125918
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000429644(uc021xav.1) ENST00000489715(uc021xax.1) ENST00000484687
    ENST00000498468 ENST00000486920 ENST00000477426
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate GBE1:
    hsa-miR-144 hsa-miR-7-1* hsa-miR-7-2* hsa-miR-205* hsa-miR-32*
    SwitchGear 3'UTR luciferase reporter plasmidGBE1 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB209731.1 AK125918.1 AK297939.1 AK300620.1 AK312245.1 BC012098.1 L07956.1 

    15 DOTS entries:

    DT.114582  DT.92453716  DT.92453719  DT.120868075  DT.95173376  DT.99940635  DT.120868068  DT.120868076 
    DT.100639302  DT.120868032  DT.92453728  DT.92453732  DT.92453733  DT.91858968  DT.99932512 

    24/263 AceView cDNA sequences (see all 263):

    AI038977 CA432377 BM509929 AI357506 AA371308 BF744850 BQ227927 BX090460 
    BU155967 CD671646 BF724331 AA906791 AI571972 BQ717531 BM475980 AW241328 
    AA248685 BG532485 T29773 CA422857 BU624309 AI701054 BU902984 BQ924318 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GBE1 expression in normal human tissues (normalized intensities)      GBE1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATGATTATT
    GBE1 Expression
    About this image


    GBE1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
             brain/midbrain   
     
     Endothelium (Cardiovascular System)
             blood vessel   
     
     Adipose (Muscoskeletal System)
             Adipocyte   
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Oral Cavity (Gastrointestinal Tract)
             TONGUE   

    See GBE1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GBE1

    SOURCE GeneReport for Unigene cluster: Hs.436062

    UniProtKB/Swiss-Prot: GLGB_HUMAN, Q04446
    Tissue specificity: Highest levels found in liver and muscle

        SABiosciences Expression via Pathway-Focused PCR Arrays including GBE1: 
              Parkinson's Disease in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat
              Glucose Metabolism in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GBE1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GBE1 gene from 10/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gbe11 , 5 glucan (1,4-alpha-), branching enzyme 11, 5 86.8(n)1
    91.31(a)1
      16 (40.19 cM)5
    741851  NM_028803.31  NP_083079.11 
     703139495 
    chicken
    (Gallus gallus)
    Aves GBE11 glucan (1,4-alpha-), branching enzyme 1 76.55(n)
    77.98(a)
      427964  XM_425536.3  XP_425536.3 
    lizard
    (Anolis carolinensis)
    Reptilia GBE16
    glucan (1,4-alpha-), branching enzyme 1
    73(a)
    1 ↔ 1
    3(156971665-157220917)
    African clawed frog
    (Xenopus laevis)
    Amphibia CF521918.12   -- 75.59(n)    CF521918.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5592121 1,4-alpha-glucan-branching enzyme-like 66.67(n)
    73.28(a)
      559212  XM_682528.5  XP_687620.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG331381 CG33138 56.72(n)
    61.89(a)
      326264  NM_176162.1  NP_788342.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_T04A8.71 Protein T04A8.7 57.44(n)
    56.7(a)
      3565201  NM_065560.3  NP_497961.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GLC31 Glc3p 59.69(n)
    61.6(a)
      856705   NP_010905.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SBE2.11 1,4-alpha-glucan branching enzyme 59.67(n)
    59.07(a)
      818212  NM_129196.3  NP_181180.1 
    rice
    (Oryza sativa)
    Liliopsida Os.221692 Oryza sativa (japonica cultivar-group) mRNA for branching more 73.18(n)    AF136268.1 


    ENSEMBL Gene Tree for GBE1 (if available)
    TreeFam Gene Tree for GBE1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5019 SNPs in GBE1 are shown (see all 5019)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0224294
    Glycogen storage disease 4 (GSD4)4--see VAR_0224292 L P mis40--------
    VAR_0224334
    Adult polyglucosan body disease (APBD)4--see VAR_0224332 R H mis40--------
    VAR_0224304
    Glycogen storage disease 4 (GSD4)4--see VAR_0224302 F L mis40--------
    VAR_0224344
    Glycogen storage disease 4 (GSD4)4--see VAR_0224342 R Q mis40--------
    VAR_0224364
    Glycogen storage disease 4 (GSD4)4--see VAR_0224362 H R mis40--------
    VAR_0224314
    Glycogen storage disease 4 (GSD4)4--see VAR_0224312 Y S mis40--------
    VAR_0224324
    Glycogen storage disease 4 (GSD4)4--see VAR_0224322 R C mis40--------
    VAR_0224354
    Glycogen storage disease 4 (GSD4)4--see VAR_0224352 H R mis40--------
    rs1378528901,2
    Cpathogenic181539139(-) TGGAAA/G/TAAAGA 2 E * stg10--------
    rs803386731,2
    Cpathogenic181580166(-) GATTCA/GACTCA 2 Q R mis10--------

    HapMap Linkage Disequilibrium report for GBE1 (81538850 - 81788850 bp, first 250kb of GBE1)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for GBE1 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1008470CNV Deletion20482838
    esv1726256CNV Deletion17803354
    esv2668691CNV Deletion23128226
    esv2725581CNV Deletion23290073
    esv3326CNV Deletion18987735
    esv2672095CNV Deletion23128226
    esv995823CNV Deletion20482838
    esv2659520CNV Deletion23128226
    esv2675026CNV Deletion23128226
    esv23507CNV Loss19812545


    Human Gene Mutation Database (HGMD): GBE1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing GBE1
    DNA2.0 Custom Variant and Variant Library Synthesis for GBE1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607839   
    OMIM disorders: 232500  
    UniProtKB/Swiss-Prot: GLGB_HUMAN, Q04446
  • Glycogen storage disease 4 (GSD4) [MIM:232500]: A metabolic disorder characterized by the accumulation of
    an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing
    to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver
    disease is not always progressive. No treatment apart from liver transplantation has been found to prevent
    progression of the disease. There is also a neuromuscular form of glycogen storage disease type 4 that varies in
    onset (perinatal, congenital, juvenile, or adult) and severity. Note=The disease is caused by mutations affecting
    the gene represented in this entry
  • Note=Neuromuscular perinatal glycogen storage disease type 4 is associated with non-immune hydrops
    fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes.
    Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and
    the end-stage of a wide variety of disorders
  • Adult polyglucosan body disease (APBD) [MIM:263570]: A late-onset, slowly progressive disorder affecting
    the central and peripheral nervous systems. Patients typically present after age 40 years with a variable
    combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other
    manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBD is the
    widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are
    confined to neuronal and astrocytic processes. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/27 diseases for GBE1 (see all 27):    About MalaCards
    adult polyglucosan body disease    glycogen storage disease iv    gbe1-related disorders    sea-blue histiocyte syndrome
    lafora disease    neurogenic bladder    glycogen storage disease    hydrops fetalis
    myoclonus epilepsy    progressive myoclonus epilepsy    myoclonus    dyslexia
    gaucher's disease    liver cirrhosis    peripheral neuropathy    hypotonia
    myopathy    metabolic disorders    coronary heart disease    neuropathy

    2 diseases from the University of Copenhagen DISEASES database for GBE1:
    Glycogen storage disease     sea-blue histiocyte syndrome

    GBE1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    9 Novoseek inferred disease relationships for GBE1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen storage disease type iv 99.1 80 14970703 (3), 18661138 (2), 17257876 (2), 9851430 (2) (see all 30)
    phosphofructokinase deficiency 83.5 1 1838126 (1)
    enzyme deficiency 74.1 3 15787805 (1), 14755501 (1)
    lafora disease 69.3 1 17452581 (1)
    glycogen storage disease 67.8 1 18691923 (1)
    cardiomyopathy 45 2 18661138 (1), 18691923 (1)
    myopathy 42.3 1 15452297 (1)
    liver cirrhosis 37 1 20479904 (1)
    genetic disorder 17.3 4 16528737 (1), 7971833 (1)

    GeneTests: GBE1
    GeneReviews: GBE1
    Genetic Association Database (GAD): GBE1
    Human Genome Epidemiology (HuGE) Navigator: GBE1 (7 documents)

    Export disorders for GBE1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GBE1 gene, integrated from 9 sources (see all 82):
    (articles sorted by number of sources associating them with GBE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast. (PubMed id 8463281)1, 2, 3, 9 Thon V.J.... Cannon J.F. (1993)
    2. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. (PubMed id 8613547)1, 2, 9 Bao Y.... Chen Y.T. (1996)
    3. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). (PubMed id 15452297)1, 2, 9 Bruno C.... Minetti C. (2004)
    4. Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. (PubMed id 10762170)1, 2, 9 Ziemssen F.... Vorgerd M. (2000)
    5. A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. (PubMed id 10545044)1, 2, 9 Bruno C.... DiMauro S. (1999)
    6. Analyses of shared genetic factors between asthma and obesity in children. (PubMed id 20816195)1, 4 MelAcn E....Lasky-Su J. (2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    8. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    10. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2632 HGNC: 4180 AceView: GBE1 Ensembl:ENSG00000114480 euGenes: HUgn2632
    ECgene: GBE1 Kegg: 2632 H-InvDB: GBE1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GBE1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GBE1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GBE1 gene:
    Search GeneIP for patents involving GBE1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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