======= POGLUT1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: POGLUT1
  * **<color #00a2e8>Official Name</color>**: protein O-glucosyltransferase 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=56983|56983]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8NBL1|Q8NBL1]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=POGLUT1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20POGLUT1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/615618|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Dual specificity glycosyltransferase that catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to a serine residue found in the consensus sequence of C-X-S-X-P-C (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076). Specifically targets extracellular EGF repeats of protein such as CRB2, F7, F9 and NOTCH2 (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076). Acts as a positive regulator of Notch signaling by mediating O-glucosylation of Notch, leading to regulate muscle development (PubMed:27807076). Notch glucosylation does not affect Notch ligand binding (PubMed:21490058). Required during early development to promote gastrulation: acts by mediating O- glucosylation of CRB2, which is required for CRB2 localization to the cell membrane (By similarity). {ECO:0000250|UniProtKB:Q8BYB9, ECO:0000269|PubMed:21081508, ECO:0000269|PubMed:21490058, ECO:0000269|PubMed:21949356, ECO:0000269|PubMed:27807076}.

<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'>
|DUF821|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|UDP-glucosyltransferase activity|
|protein xylosyltransferase activity|
|glucosyltransferase activity|
|axial mesoderm development|
|UDP-xylosyltransferase activity|
|protein O-linked glycosylation via serine|
|paraxial mesoderm development|
|regulation of gastrulation|
|positive regulation of Notch signaling pathway|
|somitogenesis|
|somite development|
|segmentation|
|regulation of Notch signaling pathway|
|protein O-linked glycosylation|
|mesoderm development|
|regulation of embryonic development|
|gastrulation|
|peptidyl-serine modification|
|anterior/posterior pattern specification|
|mesenchyme development|
|protein glycosylation|
|macromolecule glycosylation|
|glycosylation|
|muscle tissue development|
|endoplasmic reticulum lumen|
|glycoprotein biosynthetic process|
|regionalization|
|glycoprotein metabolic process|
|pattern specification process|
|cardiovascular system development|
|embryonic morphogenesis|
|carbohydrate derivative biosynthetic process|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|circulatory system development|
|peptidyl-amino acid modification|
|anatomical structure formation involved in morphogenesis|
|embryo development|
|carbohydrate derivative metabolic process|
|regulation of anatomical structure morphogenesis|
|epithelium development|
|organonitrogen compound biosynthetic process|
|positive regulation of signal transduction|
|cellular macromolecule biosynthetic process|
|tissue development|
|macromolecule biosynthetic process|
|positive regulation of cell communication|
|positive regulation of signaling|
</modal>
\\

 === CRISPR Data ===
<button type='primary' 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'>
^Screen^Score^
|[[:results:exp99|NFN1 0.4μM R03 exp99]]|1.76|
</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>**: 13595
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.15 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='POGLUT1 Expression in NALM6 Cells: 5.15'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>