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

Gene ID: 2632, updated on 8-Jul-2018
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
See GBE1 in Genome Data Viewer
Location:
3p12.2
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 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
 
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
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 
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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

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