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    GBE1 glucan (1,4-alpha-), branching enzyme 1 [ Homo sapiens ]

    Gene ID: 2632, updated on 11-May-2012
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    Summary

    Official Symbol
    GBE1provided by HGNC
    Official Full Name
    glucan (1,4-alpha-), branching enzyme 1provided by HGNC
    Primary source
    HGNC:4180
    See related
    Ensembl:ENSG00000114480; HPRD:01985; MIM:607839; Vega:OTTHUMG00000158978
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GBE
    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]
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    Genomic context

    Location :
    3p12.3
    Sequence :
    Chromosome: 3; NC_000003.11 (81538850..81810950, complement)
    See GBE1 in Epigenomics, MapViewer

    Chromosome 3 - NC_000003.11Genomic Context describing neighboring genes Neighboring gene oxysterol binding protein-like 9 pseudogene Neighboring gene heterogeneous nuclear ribonucleoprotein A1-like Neighboring gene SET pseudogene 6 Neighboring gene ribosomal protein L7a pseudogene 23 Neighboring gene cytochrome P450, family 51, pseudogene 1

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    2. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    3. Purification and identification of endogenous polySUMO conjugates. Bruderer R, et al. EMBO Rep, 2011 Feb. PMID 21252943.
    4. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    5. Analyses of shared genetic factors between asthma and obesity in children. Melén E, et al. J Allergy Clin Immunol, 2010 Sep. PMID 20816195.

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Case Report: report an as yet undefined and different phenotype of glycogen storage disease with diminished branching enzyme activity associated with multisystemic involvement.
      Title: Multisystem involvement in a patient due to accumulation of amylopectin-like material with diminished branching enzyme activity.
    2. GYS1 regulation by HIF plays a central role in the hypoxic accumulation of glycogen, and hypoxia also upregulates the expression of UTP:glucose-1-phosphate urydylyltransferase (UGP2) and 1,4-alpha glucan branching enzyme (GBE1)
      Title: Hypoxia promotes glycogen accumulation through hypoxia inducible factor (HIF)-mediated induction of glycogen synthase 1.
    3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. A c.1558delC frame shift mutation in exon 12 and a c.1999C>T mutation in exon 14 of the GBE1 gene were observed in a neonate with glycogen storage disease type IV.
      Title: Placental involvement in glycogen storage disease type IV.
    6. brain white matter degeneration in APBD may result from tissue damage involving axons and myelin in GBE missense mutation
      Title: Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Analyses of shared genetic factors between asthma and obesity in children.
    8. Mutations in the GBE1 gene, located on chromosome 3, have been identified in phenotypes of glycogenosis 4.
      Title: Neuromuscular forms of glycogen branching enzyme deficiency.
    9. Nine novel GBE1 mutations were identified, including nonsense, missense, deletion, insertion, and splice-junction mutations. Implications for protein structure and interactions were modeled.
      Title: Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
    Submit: New GeneRIF Correction
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Andersen disease

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q04446 P52209 PGD    HPRD  PubMed  
    BioGRID:108902 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108902 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Glucose metabolism, organism-specific biosystem (from REACTOME)
      Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
    • Glycogen Metabolism, organism-specific biosystem (from WikiPathways)
      Glycogen Metabolism, organism-specific biosystemGlycogen is a very large, branched polymer of glucose residues. Within skeletal musle and liver glucose is stored as glycogen. In the liver, glycogen synthesis and degradation are regulated to mainta...
    • Glycogen synthesis, organism-specific biosystem (from REACTOME)
      Glycogen synthesis, organism-specific biosystemGlycogen, a highly branched glucose polymer, is formed and broken down in most human tissues, but is most abundant in liver and muscle, where it serves as a major stored fuel. Glycogen metabolism has...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
      Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
    • Starch and sucrose metabolism, organism-specific biosystem (from KEGG)
      Starch and sucrose metabolism, organism-specific biosystem
      Starch and sucrose metabolism
    • Starch and sucrose metabolism, conserved biosystem (from KEGG)
      Starch and sucrose metabolism, conserved biosystem
      Starch and sucrose metabolism
    • glycogen biosynthesis II (from UDP-D-Glucose), organism-specific biosystem (from BIOCYC)
      glycogen biosynthesis II (from UDP-D-Glucose), organism-specific biosystemGeneral Background : 6-alpha-D--1-4-alpha-D-Glucano--Glucan is a megadalton-sized glucose polymer and a major reservoir of readily available energy and carbon compounds in humans. The linkages betw...
    • glycogen biosynthesis II (from UDP-D-Glucose), conserved biosystem (from BIOCYC)
      glycogen biosynthesis II (from UDP-D-Glucose), conserved biosystemGeneral Background |FRAME: Glycogens Glycogen| and |FRAME: Starch|, megadalton-sized glucose polymers, are the major reservoir of readily available energy and carbon compounds in most living organis...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    1,4-alpha-glucan branching enzyme activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    cation binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    hydrolase activity, hydrolyzing O-glycosyl compounds IEA
    Inferred from Electronic Annotation
    more info
    		  
    transferase activity, transferring glycosyl groups IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
    		  
    generation of precursor metabolites and energy TAS
    Traceable Author Statement
    more info
    		 PubMed 
    glucose metabolic process TAS
    Traceable Author Statement
    more info
    		  
    glycogen biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    glycogen metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    1,4-alpha-glucan-branching enzyme
    Names
    1,4-alpha-glucan-branching enzyme
    brancher enzyme
    glycogen branching enzyme
    glycogen-branching enzyme
    amylo-(1,4 to 1,6) transglucosidase
    amylo-(1,4 to 1,6) transglycosylase
    NP_000149.3
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011810.1 RefSeqGene

      Range
      5001..277102
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000158.3 → NP_000149.3  1,4-alpha-glucan-branching enzyme

      Status: REVIEWED

      Source sequence(s)
      AB209731, AK125918, BQ022720, BQ632568
      Consensus CDS
      CCDS54612.1
      UniProtKB/Swiss-Prot
      Q04446
      UniProtKB/TrEMBL
      Q59ET0
      Related
      ENSP00000410833, OTTHUMP00000213788, ENST00000429644, OTTHUMT00000352760
      Conserved Domains (4) summary
      PLN02447
      Location:2 – 699
      Blast Score: 2829
      PLN02447; 1,4-alpha-glucan-branching enzyme
      cd02854
      Location:83 – 178
      Blast Score: 401
      E_set_GBE_euk_N; N-terminal Early set domain associated with the catalytic domain of eukaryotic glycogen branching enzyme (also called 1,4 alpha glucan branching enzyme)
      cd11321
      Location:180 – 585
      Blast Score: 2263
      AmyAc_bac_euk_BE; Alpha amylase catalytic domain found in bacterial and eukaryotic branching enzymes
      cl02706
      Location:603 – 695
      Blast Score: 206
      Alpha-amylase_C; Alpha amylase, C-terminal all-beta domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000003.11 Reference GRCh37.p5 Primary Assembly

      Range
      81538850..81810950, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000135.1 Alternate HuRef

      Range
      81557582..81828544, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC017015.4 (2046..155372) None
    genomic AC025029.16 None
    genomic AC099049.2 (152356..180338) None
    genomic CH471110.2 EAW68879.1
      EAW68880.1
    mRNA AB209731.1 BAD92968.1
    mRNA AK125918.1 BAG54265.1
    mRNA AK297939.1 BAG60255.1
    mRNA AK300620.1 BAG62313.1
    mRNA AK312245.1 None
    mRNA BC012098.1 AAH12098.1
    mRNA BE614098.1 None
    mRNA BM509929.1 None
    mRNA BQ022720.1 None
    mRNA BQ632568.1 None
    mRNA L07956.1 AAA58642.1
    other-genetic EU176342.1 ABW03793.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q04446.3 GenPept UniProtKB/Swiss-Prot:Q04446
    Q59ET0 GenPept UniProtKB/TrEMBL:Q59ET0
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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