======= NPHS1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: NPHS1
  * **<color #00a2e8>Official Name</color>**: NPHS1 adhesion molecule, nephrin
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=4868|4868]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O60500|O60500]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=NPHS1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20NPHS1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/602716|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity). {ECO:0000250|UniProtKB:Q9QZS7, ECO:0000250|UniProtKB:Q9R044}.

<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'>
|C2-set 2|
|I-set|
|fn3|
|V-set|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|slit diaphragm|
|glomerular visceral epithelial cell development|
|glomerular basement membrane development|
|glomerular epithelial cell development|
|renal filtration cell differentiation|
|glomerular visceral epithelial cell differentiation|
|glomerular epithelial cell differentiation|
|glomerular epithelium development|
|myoblast fusion|
|myosin binding|
|regulation of excretion|
|epithelial cell differentiation involved in kidney development|
|cell-cell fusion|
|syncytium formation by plasma membrane fusion|
|syncytium formation|
|excretion|
|cell differentiation involved in kidney development|
|glomerulus development|
|myotube differentiation|
|protein localization to synapse|
|JNK cascade|
|positive regulation of actin filament polymerization|
|nephron epithelium development|
|cell projection|
|stress-activated MAPK cascade|
|skeletal muscle tissue development|
|nephron development|
|positive regulation of protein polymerization|
|kidney epithelium development|
|skeletal muscle organ development|
|stress-activated protein kinase signaling cascade|
|regulation of actin filament polymerization|
|regulation of actin polymerization or depolymerization|
|regulation of actin filament length|
|epithelial cell development|
|positive regulation of supramolecular fiber organization|
|striated muscle cell differentiation|
|positive regulation of cytoskeleton organization|
|regulation of protein polymerization|
|muscle cell differentiation|
|positive regulation of protein complex assembly|
|regulation of actin filament organization|
|kidney development|
|striated muscle tissue development|
|renal system development|
|muscle organ development|
|muscle tissue development|
|urogenital system development|
|extracellular matrix organization|
|regulation of actin cytoskeleton organization|
|regulation of supramolecular fiber organization|
|MAPK cascade|
|regulation of cellular component size|
|extracellular structure organization|
|regulation of actin filament-based process|
|signal transduction by protein phosphorylation|
|focal adhesion|
|regulation of protein complex assembly|
|muscle structure development|
|regulation of anatomical structure size|
|positive regulation of cellular component biogenesis|
|regulation of cytoskeleton organization|
|regulation of system process|
|positive regulation of organelle organization|
|epithelial cell differentiation|
|regulation of secretion|
|anatomical structure formation involved in morphogenesis|
|cell adhesion|
|biological adhesion|
|regulation of cellular component biogenesis|
|protein phosphorylation|
|epithelium development|
|positive regulation of cellular component organization|
|phosphorylation|
|regulation of organelle organization|
|integral component of plasma membrane|
|cell development|
|intracellular signal transduction|
|cellular response to stress|
|tissue development|
|regulation of transport|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='default' 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'>
No hits were found.
</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|1/17|
|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>**: 4959
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.14 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='NPHS1 Expression in NALM6 Cells: 1.14'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>