======= NPHP3 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: NPHP3
  * **<color #00a2e8>Official Name</color>**: nephrocystin 3
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=27031|27031]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q7Z494|Q7Z494]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=NPHP3&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20NPHP3|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608002|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<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'>
|TPR 1|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|regulation of planar cell polarity pathway involved in neural tube closure|
|determination of intestine left/right asymmetry|
|determination of stomach left/right asymmetry|
|stomach development|
|maintenance of animal organ identity|
|determination of pancreatic left/right asymmetry|
|determination of liver left/right asymmetry|
|determination of digestive tract left/right asymmetry|
|convergent extension involved in gastrulation|
|epithelial cilium movement involved in determination of left/right asymmetry|
|convergent extension|
|regulation of establishment of planar polarity involved in neural tube closure|
|regulation of Wnt signaling pathway, planar cell polarity pathway|
|ureter development|
|regulation of epithelial tube formation|
|atrial septum development|
|regulation of non-canonical Wnt signaling pathway|
|epithelial cilium movement involved in extracellular fluid movement|
|extracellular transport|
|cardiac atrium development|
|photoreceptor cell maintenance|
|cilium movement|
|heart looping|
|determination of heart left/right asymmetry|
|embryonic heart tube morphogenesis|
|pancreas development|
|retina homeostasis|
|embryonic heart tube development|
|kidney morphogenesis|
|cardiac septum development|
|regulation of establishment of planar polarity|
|determination of left/right symmetry|
|determination of bilateral symmetry|
|specification of symmetry|
|liver development|
|hepaticobiliary system development|
|regulation of embryonic development|
|digestive tract development|
|digestive system development|
|gastrulation|
|lung development|
|cardiac chamber development|
|respiratory tube development|
|negative regulation of canonical Wnt signaling pathway|
|regulation of morphogenesis of an epithelium|
|microtubule-based transport|
|tissue homeostasis|
|respiratory system development|
|cilium|
|negative regulation of Wnt signaling pathway|
|heart morphogenesis|
|regulation of animal organ morphogenesis|
|kidney development|
|microtubule-based movement|
|regulation of canonical Wnt signaling pathway|
|renal system development|
|embryonic organ morphogenesis|
|epithelial tube morphogenesis|
|urogenital system development|
|multicellular organismal homeostasis|
|anatomical structure homeostasis|
|cilium assembly|
|cell-cell signaling by wnt|
|Wnt signaling pathway|
|regulation of Wnt signaling pathway|
|cilium organization|
|gland development|
|cell surface receptor signaling pathway involved in cell-cell signaling|
|morphogenesis of an epithelium|
|embryonic organ development|
|pattern specification process|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|heart development|
|tissue morphogenesis|
|embryonic morphogenesis|
|tube morphogenesis|
|microtubule-based process|
|negative regulation of cell differentiation|
|organelle assembly|
|tube development|
|circulatory system development|
|regulation of nervous system development|
|negative regulation of developmental process|
|animal organ morphogenesis|
|embryo development|
|regulation of anatomical structure morphogenesis|
|epithelium development|
|cell-cell signaling|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|negative regulation of signal transduction|
|negative regulation of cell communication|
|negative regulation of signaling|
|movement of cell or subcellular component|
|negative regulation of response to stimulus|
|homeostatic process|
|tissue development|
|regulation of cell differentiation|
|extracellular region|
</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:exp532|TIC10 10μM R08 exp532]]|-1.97|
</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>**: 13491
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.39 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='NPHP3 Expression in NALM6 Cells: 4.39'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>