KLHL12 [The Human Chemical-Genetic Interaction Map Project]

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======= KLHL12 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: KLHL12
  * **<color #00a2e8>Official Name</color>**: kelch like family member 12
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=59349|59349]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q53G59|Q53G59]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=KLHL12&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20KLHL12|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/614522|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**: N/A
  * **<color #00a2e8>UniProt Summary</color>**:  Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a negative regulator of Wnt signaling pathway and ER-Golgi transport (PubMed:22358839, PubMed:27565346). The BCR(KLHL12) complex is involved in ER-Golgi transport by regulating the size of COPII coats, thereby playing a key role in collagen export, which is required for embryonic stem (ES) cells division: BCR(KLHL12) acts by mediating monoubiquitination of SEC31 (SEC31A or SEC31B) (PubMed:22358839, PubMed:27565346). The BCR(KLHL12) complex is also involved in neural crest specification: in response to cytosolic calcium increase, interacts with the heterodimer formed with PEF1 and PDCD6/ALG-2, leading to bridge together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export (PubMed:27716508). As part of the BCR(KLHL12) complex, also acts as a negative regulator of the Wnt signaling pathway by mediating ubiquitination and subsequent proteolysis of DVL3 (PubMed:16547521). The BCR(KLHL12) complex also mediates polyubiquitination of DRD4 and PEF1, without leading to degradation of these proteins (PubMed:18303015, PubMed:20100572, PubMed:27716508). {ECO:0000269|PubMed:16547521, ECO:0000269|PubMed:18303015, ECO:0000269|PubMed:20100572, ECO:0000269|PubMed:22358839, ECO:0000269|PubMed:27565346, 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'>
|Kelch 1|
|BTB|
|BACK|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|neural crest formation|
|COPII vesicle coat|
|Cul3-RING ubiquitin ligase complex|
|COPII-coated ER to Golgi transport vesicle|
|protein monoubiquitination|
|vesicle targeting, rough ER to cis-Golgi|
|COPII vesicle coating|
|vesicle coating|
|COPII-coated vesicle budding|
|vesicle targeting, to, from or within Golgi|
|epithelial to mesenchymal transition|
|Golgi vesicle budding|
|neural crest cell development|
|stem cell development|
|mesenchymal cell development|
|neural crest cell differentiation|
|vesicle targeting|
|vesicle budding from membrane|
|mesenchymal cell differentiation|
|microtubule organizing center|
|stem cell differentiation|
|establishment of vesicle localization|
|negative regulation of canonical Wnt signaling pathway|
|vesicle localization|
|negative regulation of Wnt signaling pathway|
|endoplasmic reticulum to Golgi vesicle-mediated transport|
|mesenchyme development|
|regulation of canonical Wnt signaling pathway|
|vesicle organization|
|Wnt signaling pathway|
|cell-cell signaling by wnt|
|regulation of Wnt signaling pathway|
|establishment of organelle localization|
|Golgi vesicle transport|
|cell surface receptor signaling pathway involved in cell-cell signaling|
|organelle localization|
|Golgi membrane|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|intracellular membrane-bounded organelle|
|protein ubiquitination|
|protein modification by small protein conjugation|
|membrane organization|
|anatomical structure formation involved in morphogenesis|
|embryo development|
|protein modification by small protein conjugation or removal|
|identical protein binding|
|cell-cell signaling|
|negative regulation of signal transduction|
|negative regulation of cell communication|
|negative regulation of signaling|
|intracellular transport|
|protein-containing complex assembly|
|negative regulation of response to stimulus|
|cell development|
|tissue development|
|establishment of localization in cell|
|protein-containing complex subunit organization|
|vesicle-mediated transport|
</modal>
\\

 === CRISPR Data ===
<button type='primary' 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'>
^Screen^Score^
|[[:results:exp19|Etoposide 1μM R00 exp19]]|-2.21|
|[[:results:exp489|Hippuristanol 0.12μM R08 exp489 no dilution day6]]|-1.73|
|[[:results:exp107|UMK57 0.6μM R03 exp107]]|1.71|
|[[:results:exp215|Colchicine 0.009μM R05 exp215]]|1.86|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:m:mtch2|MTCH2]]|0.446|
|[[:human genes:z:zfand5|ZFAND5]]|0.42|
|[[:human genes:p:ppp3ca|PPP3CA]]|0.407|
</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>**: 15860
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.06 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='KLHL12 Expression in NALM6 Cells: 6.06'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>