GBE1 [The Human Chemical-Genetic Interaction Map Project]

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======= GBE1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: GBE1
  * **<color #00a2e8>Official Name</color>**: 1,4-alpha-glucan branching enzyme 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2632|2632]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q04446|Q04446]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=GBE1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20GBE1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607839|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Required for normal glycogen accumulation (PubMed:8463281, PubMed:26199317, PubMed:8613547). The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable). {ECO:0000269|PubMed:26199317, ECO:0000269|PubMed:8463281, ECO:0000269|PubMed:8613547, ECO:0000305}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Alpha-amylase C|
|CBM 48|
|Alpha-amylase|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|1,4-alpha-glucan branching enzyme activity|
|1,4-alpha-glucan branching enzyme activity (using a glucosylated glycogenin as primer for glycogen synthesis)|
|cation binding|
|hydrolase activity, hydrolyzing O-glycosyl compounds|
|glycogen biosynthetic process|
|glucan biosynthetic process|
|polysaccharide biosynthetic process|
|cellular polysaccharide biosynthetic process|
|glycogen metabolic process|
|glucan metabolic process|
|cellular glucan metabolic process|
|cellular carbohydrate biosynthetic process|
|energy reserve metabolic process|
|cellular polysaccharide metabolic process|
|polysaccharide metabolic process|
|carbohydrate biosynthetic process|
|cellular carbohydrate metabolic process|
|energy derivation by oxidation of organic compounds|
|generation of precursor metabolites and energy|
|carbohydrate metabolic process|
|oxidation-reduction process|
|cellular macromolecule biosynthetic process|
|macromolecule biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='default' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
No hits were found.
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 12312
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.62 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='GBE1 Expression in NALM6 Cells: 6.62'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>