Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

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

    Gene ID: 2632, updated on 5-Nov-2017
    Official Symbol
    GBE1provided by HGNC
    Official Full Name
    1,4-alpha-glucan branching enzyme 1provided by HGNC
    Primary source
    HGNC:HGNC:4180
    See related
    Ensembl:ENSG00000114480 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; APBD; GSD4
    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]
    Expression
    Ubiquitous expression in fat (RPKM 48.8), adrenal (RPKM 29.5) and 24 other tissues See more
    Orthologs
    Location:
    3p12.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (81489699..81761799, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (81538850..81810950, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377174 Neighboring gene long intergenic non-protein coding RNA 2027 Neighboring gene RNA, U2 small nuclear 28, pseudogene Neighboring gene SET pseudogene 6 Neighboring gene uncharacterized LOC105377178 Neighboring gene uncharacterized LOC105377179

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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 muscle and liver glucose is stored as glycogen. In the liver, glycogen synthesis and degradation are regulated to maint...
    • 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, organism-specific biosystem (from BIOCYC)
      glycogen biosynthesis, organism-specific biosystemGeneral Background : Glycogens "Glycogen" is a megadalton-sized glucose polymer and a major reservoir of readily available energy and carbon compounds in humans. The linkages between the glucose un...
    • glycogen biosynthesis II (from UDP-D-Glucose), conserved biosystem (from BIOCYC)
      glycogen biosynthesis II (from UDP-D-Glucose), conserved biosystemGeneral Background Glycogen is a highly branched glucose polymer that serves as a form of energy storage in animals and fungi. It resembles plant-produced |FRAME: Starch starch| and is sometimes cal...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    1,4-alpha-glucan branching enzyme activity EXP
    Inferred from Experiment
    more info
    PubMed 
    1,4-alpha-glucan branching enzyme activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    1,4-alpha-glucan branching enzyme activity (using a glucosylated glycogenin as primer for glycogen synthesis) IEA
    Inferred from Electronic Annotation
    more info
     
    carbohydrate binding 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
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    generation of precursor metabolites and energy TAS
    Traceable Author Statement
    more info
    PubMed 
    glycogen biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glycogen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    glycogen biosynthetic process TAS
    Traceable Author Statement
    more info
     
    glycogen metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    1,4-alpha-glucan-branching enzyme
    Names
    amylo-(1,4 to 1,6) transglucosidase
    amylo-(1,4 to 1,6) transglycosylase
    brancher enzyme
    glucan (1,4-alpha-), branching enzyme 1
    glycogen branching enzyme
    NP_000149.3

    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_000158.3NP_000149.3  1,4-alpha-glucan-branching enzyme

      See identical proteins and their annotated locations for NP_000149.3

      Status: REVIEWED

      Source sequence(s)
      AB209731, AK125918, BQ022720, BQ632568
      Consensus CDS
      CCDS54612.1
      UniProtKB/Swiss-Prot
      Q04446
      UniProtKB/TrEMBL
      Q59ET0
      Related
      ENSP00000410833.2, OTTHUMP00000213788, ENST00000429644.6, OTTHUMT00000352760
      Conserved Domains (4) summary
      cd02854
      Location:83178
      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:180585
      AmyAc_bac_euk_BE; Alpha amylase catalytic domain found in bacterial and eukaryotic branching enzymes
      PLN02447
      Location:2699
      PLN02447; 1,4-alpha-glucan-branching enzyme
      pfam02806
      Location:603698
      Alpha-amylase_C; Alpha amylase, C-terminal all-beta domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      81489699..81761799 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      81490987..81762964 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center