NPHP1 [The Human Chemical-Genetic Interaction Map Project]

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======= NPHP1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: NPHP1
  * **<color #00a2e8>Official Name</color>**: nephrocystin 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=4867|4867]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O15259|O15259]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=NPHP1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20NPHP1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607100|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development. In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis (By similarity). {ECO:0000250}.

<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'>
|SH3 1|
|SH3 2|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of bicellular tight junction assembly|
|regulation of bicellular tight junction assembly|
|positive regulation of cell junction assembly|
|photoreceptor connecting cilium|
|excretion|
|visual behavior|
|adherens junction|
|regulation of cell junction assembly|
|ciliary basal body-plasma membrane docking|
|motile cilium|
|bicellular tight junction|
|retina development in camera-type eye|
|spermatid differentiation|
|organelle localization by membrane tethering|
|cell-cell junction|
|membrane docking|
|structural molecule activity|
|response to light stimulus|
|camera-type eye development|
|cilium assembly|
|cellular process involved in reproduction in multicellular organism|
|eye development|
|visual system development|
|cytoskeleton|
|sensory system development|
|cilium organization|
|response to radiation|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|actin cytoskeleton organization|
|cell-cell adhesion|
|positive regulation of cellular component biogenesis|
|spermatogenesis|
|sensory organ development|
|male gamete generation|
|actin filament-based process|
|behavior|
|organelle localization|
|developmental process involved in reproduction|
|gamete generation|
|organelle assembly|
|multicellular organismal reproductive process|
|sexual reproduction|
|multicellular organism reproduction|
|cell adhesion|
|biological adhesion|
|regulation of cellular component biogenesis|
|multi-organism reproductive process|
|cytoskeleton organization|
|plasma membrane bounded cell projection organization|
|response to abiotic stimulus|
|cell projection organization|
|positive regulation of cellular component organization|
|reproductive process|
|reproduction|
|system 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:exp42|BI-6727 0.001μM R01 exp42]]|-1.73|
|[[:results:exp295|Pyronaridine 1μM R06 exp295]]|1.7|
|[[:results:exp321|ABT-702 5μM plus Deferoxamine 11μM R07 exp321]]|1.75|
|[[:results:exp401|SNS-032 25μM R07 exp401]]|1.79|
</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: 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>**: 9187
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.28 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='NPHP1 Expression in NALM6 Cells: 3.28'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>