USH1C [The Human Chemical-Genetic Interaction Map Project]

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======= USH1C =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: USH1C
  * **<color #00a2e8>Official Name</color>**: USH1 protein network component harmonin
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=10083|10083]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9Y6N9|Q9Y6N9]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=USH1C&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20USH1C|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/605242|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles (By similarity). As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips (PubMed:24725409, PubMed:26812018). {ECO:0000250|UniProtKB:Q9ES64, ECO:0000269|PubMed:24725409, ECO:0000269|PubMed:26812018}.

<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'>
|PDZ|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|protein localization to microvillus|
|brush border assembly|
|stereocilia ankle link|
|stereocilia ankle link complex|
|equilibrioception|
|regulation of microvillus length|
|parallel actin filament bundle assembly|
|retinal cone cell differentiation|
|retinal cone cell development|
|regulation of microvillus organization|
|regulation of cell projection size|
|stereocilium tip|
|camera-type eye photoreceptor cell differentiation|
|inner ear auditory receptor cell differentiation|
|spectrin binding|
|inner ear receptor cell stereocilium organization|
|stereocilium|
|eye photoreceptor cell development|
|hair cell differentiation|
|photoreceptor cell maintenance|
|photoreceptor connecting cilium|
|inner ear receptor cell development|
|neuroepithelial cell differentiation|
|eye photoreceptor cell differentiation|
|photoreceptor cell development|
|retina morphogenesis in camera-type eye|
|photoreceptor inner segment|
|brush border|
|neuromuscular process controlling balance|
|inner ear receptor cell differentiation|
|neural retina development|
|mechanoreceptor differentiation|
|photoreceptor cell differentiation|
|photoreceptor outer segment|
|actin filament bundle assembly|
|microvillus|
|actin filament bundle organization|
|apical part of cell|
|retina homeostasis|
|columnar/cuboidal epithelial cell differentiation|
|inner ear morphogenesis|
|neuromuscular process|
|camera-type eye morphogenesis|
|ear morphogenesis|
|G2/M transition of mitotic cell cycle|
|cell cycle G2/M phase transition|
|retina development in camera-type eye|
|sensory perception of sound|
|eye morphogenesis|
|sensory perception of mechanical stimulus|
|tissue homeostasis|
|inner ear development|
|actin filament binding|
|ear development|
|sensory perception of light stimulus|
|actin filament organization|
|sensory organ morphogenesis|
|synapse|
|mitotic cell cycle phase transition|
|cell cycle phase transition|
|embryonic organ morphogenesis|
|camera-type eye development|
|epidermal cell differentiation|
|multicellular organismal homeostasis|
|anatomical structure homeostasis|
|eye development|
|visual system development|
|cytoskeleton|
|sensory system development|
|regulation of cellular component size|
|epidermis development|
|embryonic organ development|
|supramolecular fiber organization|
|actin cytoskeleton organization|
|regulation of anatomical structure size|
|sensory organ development|
|embryonic morphogenesis|
|actin filament-based process|
|mitotic cell cycle process|
|neuron projection development|
|epithelial cell differentiation|
|mitotic cell cycle|
|regulation of plasma membrane bounded cell projection organization|
|regulation of cell projection organization|
|neuron development|
|cellular protein-containing complex assembly|
|animal organ morphogenesis|
|sensory perception|
|embryo development|
|cell cycle process|
|neuron differentiation|
|cytoskeleton organization|
|epithelium development|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|cell cycle|
|nervous system process|
|generation of neurons|
|protein-containing complex assembly|
|neurogenesis|
|homeostatic process|
|cell development|
|tissue development|
|protein-containing complex subunit organization|
|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:exp236|GSK2606414 1μM R05 exp236]]|1.8|
</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>**: 9540
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -4.6 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='USH1C Expression in NALM6 Cells: -4.6'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>