KLHL3 [The Human Chemical-Genetic Interaction Map Project]

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======= KLHL3 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: KLHL3
  * **<color #00a2e8>Official Name</color>**: kelch like family member 3
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=26249|26249]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9UH77|Q9UH77]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=KLHL3&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20KLHL3|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/605775|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of ion transport in the distal nephron (PubMed:14528312, PubMed:22406640, PubMed:23387299, PubMed:23453970, PubMed:23576762, PubMed:23665031). The BCR(KLHL3) complex acts by mediating ubiquitination of WNK4, an inhibitor of potassium channel KCNJ1, leading to WNK4 degradation (PubMed:23387299, PubMed:23453970, PubMed:23576762, PubMed:23665031). The BCR(KLHL3) complex also mediates ubiquitination and degradation of CLDN8, a tight-junction protein required for paracellular chloride transport in the kidney (By similarity). {ECO:0000250|UniProtKB:E0CZ16, ECO:0000269|PubMed:14528312, ECO:0000269|PubMed:22406640, ECO:0000269|PubMed:23387299, ECO:0000269|PubMed:23453970, ECO:0000269|PubMed:23576762, ECO:0000269|PubMed:23665031}.

<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'>
|distal tubule morphogenesis|
|renal sodium ion absorption|
|renal sodium ion transport|
|distal tubule development|
|renal absorption|
|selective autophagy|
|Cul3-RING ubiquitin ligase complex|
|protein K48-linked ubiquitination|
|nephron tubule morphogenesis|
|nephron epithelium morphogenesis|
|nephron morphogenesis|
|renal tubule morphogenesis|
|nephron tubule development|
|renal tubule development|
|kidney morphogenesis|
|nephron epithelium development|
|renal system process|
|nephron development|
|kidney epithelium development|
|sodium ion transport|
|macroautophagy|
|structural molecule activity|
|autophagy|
|process utilizing autophagic mechanism|
|kidney development|
|actin binding|
|renal system development|
|protein polyubiquitination|
|epithelial tube morphogenesis|
|urogenital system development|
|post-translational protein modification|
|cytoskeleton|
|monovalent inorganic cation transport|
|morphogenesis of an epithelium|
|ubiquitin-dependent protein catabolic process|
|modification-dependent protein catabolic process|
|modification-dependent macromolecule catabolic process|
|tissue morphogenesis|
|proteolysis involved in cellular protein catabolic process|
|cellular protein catabolic process|
|metal ion transport|
|tube morphogenesis|
|protein catabolic process|
|protein ubiquitination|
|protein modification by small protein conjugation|
|ion homeostasis|
|cation transport|
|tube development|
|cellular macromolecule catabolic process|
|animal organ morphogenesis|
|protein modification by small protein conjugation or removal|
|macromolecule catabolic process|
|organonitrogen compound catabolic process|
|chemical homeostasis|
|epithelium development|
|proteolysis|
|ion transport|
|homeostatic process|
|tissue development|
|organic substance catabolic process|
|cellular catabolic process|
|system process|
</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:exp80|RO-3307 4.7μM R02 exp80]]|-1.88|
</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>**: 6087
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.39 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='KLHL3 Expression in NALM6 Cells: 3.39'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>