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

Gene ID: 2632, updated on 24-Nov-2020

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

Genomic context

See GBE1 in Genome Data Viewer
Location:
3p12.2
Exon count:
16
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (81489703..81761645, 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

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

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 IBA
Inferred from Biological aspect of Ancestor
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
 
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
carbohydrate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
generation of precursor metabolites and energy TAS
Traceable Author Statement
more info
PubMed 
glycogen biosynthetic process IBA
Inferred from Biological aspect of Ancestor
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
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
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)

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 109.20201120

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)
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