======= PEF1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PEF1
  * **<color #00a2e8>Official Name</color>**: penta-EF-hand domain containing 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=553115|553115]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9UBV8|Q9UBV8]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PEF1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PEF1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/610033|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**: N/A
  * **<color #00a2e8>UniProt Summary</color>**:  Calcium-binding protein that acts as an adapter that bridges unrelated proteins or stabilizes weak protein-protein complexes in response to calcium. Together with PDCD6, acts as calcium-dependent adapter for the BCR(KLHL12) complex, a complex involved in endoplasmic reticulum (ER)-Golgi transport by regulating the size of COPII coats (PubMed:27716508). In response to cytosolic calcium increase, the heterodimer formed with PDCD6 interacts with, and bridges together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export, which is required for neural crest specification (PubMed:27716508). Its role in the heterodimer formed with PDCD6 is however unclear: some evidences show that PEF1 and PDCD6 work together and promote association between PDCD6 and SEC31 in presence of calcium (PubMed:27716508). Other reports show that PEF1 dissociates from PDCD6 in presence of calcium, and may act as a negative regulator of PDCD6 (PubMed:11278427). Also acts as a negative regulator of ER-Golgi transport; possibly by inhibiting interaction between PDCD6 and SEC31 (By similarity). {ECO:0000250|UniProtKB:Q641Z8, ECO:0000269|PubMed:11278427, ECO:0000269|PubMed:27716508}.

<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'>
|efhand|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of protein monoubiquitination|
|regulation of protein monoubiquitination|
|neural crest formation|
|COPII vesicle coat|
|Cul3-RING ubiquitin ligase complex|
|molecular adaptor activity|
|calcium-dependent protein binding|
|COPII vesicle coating|
|vesicle targeting, rough ER to cis-Golgi|
|vesicle coating|
|COPII-coated vesicle budding|
|epithelial to mesenchymal transition|
|vesicle targeting, to, from or within Golgi|
|Golgi vesicle budding|
|neural crest cell development|
|mesenchymal cell development|
|stem cell development|
|neural crest cell differentiation|
|vesicle targeting|
|vesicle budding from membrane|
|positive regulation of protein ubiquitination|
|positive regulation of protein modification by small protein conjugation or removal|
|response to calcium ion|
|mesenchymal cell differentiation|
|stem cell differentiation|
|protein dimerization activity|
|establishment of vesicle localization|
|vesicle localization|
|regulation of protein ubiquitination|
|endoplasmic reticulum to Golgi vesicle-mediated transport|
|mesenchyme development|
|regulation of protein modification by small protein conjugation or removal|
|vesicle organization|
|establishment of organelle localization|
|response to metal ion|
|Golgi vesicle transport|
|protein heterodimerization activity|
|response to inorganic substance|
|organelle localization|
|Golgi membrane|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|calcium ion binding|
|membrane organization|
|anatomical structure formation involved in morphogenesis|
|embryo development|
|endoplasmic reticulum|
|positive regulation of protein modification process|
|RNA binding|
|intracellular transport|
|protein-containing complex assembly|
|positive regulation of cellular protein metabolic process|
|cell development|
|positive regulation of protein metabolic process|
|tissue development|
|establishment of localization in cell|
|regulation of protein modification process|
|protein-containing complex subunit organization|
|vesicle-mediated transport|
</modal>
\\

 === CRISPR Data ===
<button type='default' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' 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'>
^Gene^Correlation^
|[[:human genes:r:rrm1|RRM1]]|0.414|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 1/739
^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|1/16|
|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>**: 7194
    * **<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='PEF1 Expression in NALM6 Cells: 5.15'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>