Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 2632, updated on 8-Jul-2021

    Summary

    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
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GBE1 in Genome Data Viewer
    Location:
    3p12.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (81489703..81761645, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (81538854..81810796, 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

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 

    General protein information

    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_000149.4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

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

      Status: REVIEWED

      Source sequence(s)
      AC017015, AC025029, AC099049
      Consensus CDS
      CCDS54612.1
      Related
      ENSP00000410833.2, ENST00000429644.7
      Conserved Domains (1) summary
      cl25948
      Location:2699
      PulA; Pullulanase/glycogen debranching enzyme [Carbohydrate transport and metabolism]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      81489703..81761645 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center