======= KIAA0196 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: WASHC5
  * **<color #00a2e8>Official Name</color>**: WASH complex subunit 5
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=9897|9897]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q12768|Q12768]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=KIAA0196&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20KIAA0196|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/610657|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [provided by RefSeq, Aug 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in regulation of the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922875, PubMed:20498093). May be involved in axonal outgrowth. Involved in cellular localization of ADRB2 (PubMed:23085491). Involved in cellular trafficking of BLOC-1 complex cargos such as ATP7A and VAMP7 (PubMed:23676666). {ECO:0000269|PubMed:19922875, ECO:0000269|PubMed:20833645, ECO:0000269|PubMed:23085491, ECO:0000269|PubMed:23676666}.

<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'>
|Strumpellin|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|polar body extrusion after meiotic divisions|
|spindle assembly involved in meiosis|
|meiotic cytokinesis|
|meiotic spindle organization|
|WASH complex|
|oocyte maturation|
|female meiotic nuclear division|
|oocyte development|
|oocyte differentiation|
|oogenesis|
|cytoskeleton-dependent cytokinesis|
|cytokinesis|
|spindle assembly|
|female gamete generation|
|anatomical structure maturation|
|meiotic nuclear division|
|spindle organization|
|cell maturation|
|meiotic cell cycle process|
|meiotic cell cycle|
|endosomal transport|
|developmental maturation|
|germ cell development|
|early endosome|
|positive regulation of neuron projection development|
|nuclear division|
|organelle fission|
|neuron projection|
|cellular process involved in reproduction in multicellular organism|
|positive regulation of neuron differentiation|
|neuronal cell body|
|positive regulation of cell projection organization|
|positive regulation of neurogenesis|
|microtubule cytoskeleton organization|
|cell division|
|regulation of neuron projection development|
|positive regulation of nervous system development|
|positive regulation of cell development|
|regulation of neuron differentiation|
|developmental process involved in reproduction|
|microtubule-based process|
|gamete generation|
|regulation of plasma membrane bounded cell projection organization|
|regulation of cell projection organization|
|organelle assembly|
|regulation of neurogenesis|
|multicellular organismal reproductive process|
|sexual reproduction|
|multicellular organism reproduction|
|regulation of nervous system development|
|regulation of cell development|
|positive regulation of cell differentiation|
|multi-organism reproductive process|
|cell cycle process|
|endoplasmic reticulum|
|cytoskeleton organization|
|positive regulation of cellular component organization|
|cell cycle|
|positive regulation of developmental process|
|reproductive process|
|reproduction|
|protein transport|
|intracellular transport|
|generation of neurons|
|peptide transport|
|amide transport|
|establishment of protein localization|
|neurogenesis|
|cell development|
|positive regulation of multicellular organismal process|
|regulation of cell differentiation|
|establishment of localization in cell|
|nitrogen compound transport|
|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:exp68|Clomiphene 4.4μM R02 exp68]]|-2.7|
|[[:results:exp89|Vemurafenib 6.6μM R02 exp89]]|-2.08|
|[[:results:exp454|Bafilomycin-A1 0.009μM R08 exp454]]|-2.06|
|[[:results:exp483|FTY720 3μM R08 exp483]]|-2.04|
|[[:results:exp169|BH1 1μM R04 exp169]]|-1.97|
|[[:results:exp530|Thioridazine 5μM R08 exp530]]|-1.81|
|[[:results:exp470|Chloroquine 32μM R08 exp470]]|-1.8|
|[[:results:exp504|MK2206 4μM R08 exp504]]|-1.74|
|[[:results:exp256|HMS-I1 10μM R06 exp256]]|2.01|
|[[:results:exp264|Arsenate 40μM R06 exp264]]|2.61|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:k:kiaa1033|KIAA1033]]|0.634|
|[[:human genes:c:ccdc53|CCDC53]]|0.579|
|[[:human genes:c:ccdc22|CCDC22]]|0.571|
|[[:human genes:a:actr3|ACTR3]]|0.503|
|[[:human genes:a:arpc2|ARPC2]]|0.503|
|[[:human genes:a:arpc4|ARPC4]]|0.5|
|[[:human genes:c:commd5|COMMD5]]|0.499|
|[[:human genes:c:commd3|COMMD3]]|0.48|
|[[:human genes:c:commd10|COMMD10]]|0.48|
|[[:human genes:c:commd7|COMMD7]]|0.476|
|[[:human genes:r:rab21|RAB21]]|0.457|
|[[:human genes:c:commd8|COMMD8]]|0.443|
|[[:human genes:c:commd2|COMMD2]]|0.436|
|[[:human genes:r:rab7a|RAB7A]]|0.435|
|[[:human genes:v:vps45|VPS45]]|0.433|
|[[:human genes:v:vps29|VPS29]]|0.431|
|[[:human genes:c:commd9|COMMD9]]|0.42|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 3/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|1/28|
|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>**: 3310
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.04 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='KIAA0196 Expression in NALM6 Cells: 6.04'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>