LOXHD1 [The Human Chemical-Genetic Interaction Map Project]

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======= LOXHD1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: LOXHD1
  * **<color #00a2e8>Official Name</color>**: lipoxygenase homology domains 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=125336|125336]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8IVV2|Q8IVV2]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=LOXHD1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20LOXHD1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/613072|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Involved in hearing. Required for normal function of hair cells in the inner ear (By similarity). {ECO:0000250, ECO:0000269|PubMed:19732867}.

<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'>
|PLAT|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|catalase activity|
|stereocilium|
|cellular oxidant detoxification|
|cellular detoxification|
|detoxification|
|heme binding|
|sensory perception of sound|
|sensory perception of mechanical stimulus|
|cellular response to toxic substance|
|response to toxic substance|
|oxidation-reduction process|
|sensory perception|
|nervous system process|
|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:exp463|Caffeine 2600μM R08 exp463]]|-1.72|
|[[:results:exp514|Phorbol-12-myristate-13-acetate 0.57μM R08 exp514]]|1.78|
|[[:results:exp535|Trimetrexate 0.03μM R08 exp535]]|2.03|
</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>**: 14026
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -6.6 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='LOXHD1 Expression in NALM6 Cells: -6.6'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>