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

Gene ID: 2632, updated on 3-May-2025
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; AllianceGenome:HGNC:4180
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
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See GBE1 in Genome Data Viewer
Location:
3p12.2
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (81489703..81761645, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (81543135..81815065, complement)
RS_2024_09 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 NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:81105459-81106192 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:81106193-81106925 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:81264881-81266080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:81373681-81374192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14538 Neighboring gene uncharacterized LOC124906198 Neighboring gene RNA, U2 small nuclear 28, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:81712717-81713216 Neighboring gene Sharpr-MPRA regulatory region 13148 Neighboring gene SET pseudogene 6 Neighboring gene uncharacterized LOC124909490 Neighboring gene Sharpr-MPRA regulatory region 3128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20107 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14539 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:81810661-81811269 Neighboring gene uncharacterized LOC105377178 Neighboring gene NANOG hESC enhancer GRCh37_chr3:81940530-81941247 Neighboring gene uncharacterized LOC105377179

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 1,4-alpha-glucan branching enzyme activity EXP
Inferred from Experiment
more info
PubMed 
enables 1,4-alpha-glucan branching enzyme activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables 1,4-alpha-glucan branching enzyme activity IDA
Inferred from Direct Assay
more info
PubMed 
enables 1,4-alpha-glucan branching enzyme activity IEA
Inferred from Electronic Annotation
more info
 
enables 1,4-alpha-glucan branching enzyme activity TAS
Traceable Author Statement
more info
PubMed 
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
 
enables cation binding IEA
Inferred from Electronic Annotation
more info
 
enables glycosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables hydrolase activity, hydrolyzing O-glycosyl compounds IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in generation of precursor metabolites and energy TAS
Traceable Author Statement
more info
PubMed 
involved_in glucan metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in glycogen biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in glycogen biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in glycogen biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in glycogen biosynthetic process TAS
Traceable Author Statement
more info
 
involved_in glycogen metabolic process TAS
Traceable Author Statement
more info
PubMed 
involved_in negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA 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_000149.4

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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_011810.2 RefSeqGene

    Range
    5000..276942
    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
    UniProtKB/Swiss-Prot
    B3KWV3, Q04446, Q96EN0
    UniProtKB/TrEMBL
    Q59ET0
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

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

RNA

  1. XR_007095662.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    81543135..81815065 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_008486699.1 RNA Sequence