POFUT1 [The Human Chemical-Genetic Interaction Map Project]

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======= POFUT1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: POFUT1
  * **<color #00a2e8>Official Name</color>**: protein O-fucosyltransferase 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=23509|23509]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9H488|Q9H488]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=POFUT1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20POFUT1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607491|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines. Specifically uses GDP-fucose as donor substrate and proper disulfide pairing of the substrate EGF domains is required for fucose transfer. Plays a crucial role in NOTCH signaling. Initial fucosylation of NOTCH by POFUT1 generates a substrate for FRINGE/RFNG, an acetylglucosaminyltransferase that can then extend the fucosylation on the NOTCH EGF repeats. This extended fucosylation is required for optimal ligand binding and canonical NOTCH signaling induced by DLL1 or JAGGED1. Fucosylates AGRN and determines its ability to cluster acetylcholine receptors (AChRs). {ECO:0000269|PubMed:11524432, ECO:0000269|PubMed:28334865, ECO:0000269|PubMed:8358148}.

<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'>
|O-FucT|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|peptide-O-fucosyltransferase activity|
|protein O-linked fucosylation|
|fucosyltransferase activity|
|fucose metabolic process|
|fucosylation|
|O-glycan processing|
|somitogenesis|
|somite development|
|segmentation|
|regulation of Notch signaling pathway|
|protein O-linked glycosylation|
|Notch signaling pathway|
|hexose metabolic process|
|monosaccharide metabolic process|
|anterior/posterior pattern specification|
|macromolecule glycosylation|
|protein glycosylation|
|glycosylation|
|angiogenesis|
|glycoprotein biosynthetic process|
|regionalization|
|glycoprotein metabolic process|
|blood vessel morphogenesis|
|pattern specification process|
|carbohydrate metabolic process|
|blood vessel development|
|vasculature development|
|cardiovascular system development|
|heart development|
|carbohydrate derivative biosynthetic process|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|tube morphogenesis|
|tube development|
|circulatory system development|
|anatomical structure formation involved in morphogenesis|
|embryo development|
|endoplasmic reticulum|
|carbohydrate derivative metabolic process|
|epithelium development|
|organonitrogen compound biosynthetic process|
|cellular macromolecule biosynthetic process|
|small molecule metabolic process|
|tissue development|
|macromolecule biosynthetic process|
|membrane|
</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:exp335|Aminopterin 0.005μM R07 exp335]]|-1.88|
|[[:results:exp292|Menadione 5μM R06 exp292]]|1.77|
|[[:results:exp293|Myriocin 25μM R06 exp293]]|2.01|
</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>**: 3758
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.82 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='POFUT1 Expression in NALM6 Cells: 6.82'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>