LETM1 [The Human Chemical-Genetic Interaction Map Project]

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======= LETM1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: LETM1
  * **<color #00a2e8>Official Name</color>**: leucine zipper and EF-hand containing transmembrane protein 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=3954|3954]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O95202|O95202]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=LETM1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20LETM1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/604407|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Mitochondrial proton/calcium antiporter that mediates proton-dependent calcium efflux from mitochondrion (PubMed:19797662). Crucial for the maintenance of mitochondrial tubular networks and for the assembly of the supercomplexes of the respiratory chain (PubMed:18628306). Required for the maintenance of the tubular shape and cristae organization (PubMed:18628306). In contrast to SLC8B1/NCLX, does not constitute the major factor for mitochondrial calcium extrusion (PubMed:24898248). {ECO:0000269|PubMed:18628306, ECO:0000269|PubMed:19797662, ECO:0000269|PubMed:24898248}.

<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'>
|LETM1|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|calcium:proton antiporter activity|
|calcium export from the mitochondrion|
|negative regulation of mitochondrial calcium ion concentration|
|regulation of response to salt stress|
|regulation of cellular hyperosmotic salinity response|
|calcium ion export|
|regulation of cellular response to osmotic stress|
|protein hexamerization|
|regulation of response to osmotic stress|
|mitochondrial calcium ion transmembrane transport|
|mitochondrial calcium ion homeostasis|
|cristae formation|
|inner mitochondrial membrane organization|
|ribosome binding|
|release of sequestered calcium ion into cytosol|
|negative regulation of sequestering of calcium ion|
|calcium ion transmembrane import into cytosol|
|calcium ion transport into cytosol|
|cytosolic calcium ion transport|
|mitochondrial transmembrane transport|
|regulation of sequestering of calcium ion|
|mitochondrial membrane organization|
|calcium ion transmembrane transport|
|mitochondrial transport|
|calcium ion transport|
|positive regulation of cytosolic calcium ion concentration|
|divalent metal ion transport|
|divalent inorganic cation transport|
|regulation of cytosolic calcium ion concentration|
|protein homooligomerization|
|mitochondrial inner membrane|
|cellular calcium ion homeostasis|
|mitochondrion organization|
|calcium ion homeostasis|
|cellular divalent inorganic cation homeostasis|
|divalent inorganic cation homeostasis|
|protein complex oligomerization|
|cellular metal ion homeostasis|
|inorganic cation transmembrane transport|
|cation transmembrane transport|
|metal ion homeostasis|
|cellular cation homeostasis|
|metal ion transport|
|cellular ion homeostasis|
|inorganic ion transmembrane transport|
|cation homeostasis|
|inorganic ion homeostasis|
|calcium ion binding|
|regulation of cellular response to stress|
|cellular chemical homeostasis|
|ion homeostasis|
|cation transport|
|membrane organization|
|cellular homeostasis|
|ion transmembrane transport|
|chemical homeostasis|
|mitochondrion|
|transmembrane transport|
|ion transport|
|regulation of response to stress|
|protein-containing complex assembly|
|homeostatic process|
|establishment of localization in cell|
|protein-containing complex subunit organization|
</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:exp531|THZ1 0.06μM R08 exp531]]|1.7|
|[[:results:exp435|JQ1 0.8μM R08 exp435]]|1.91|
|[[:results:exp441|GSK-J4 1.5μM R08 exp441]]|1.97|
</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: 629/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|1/1|
|bile duct|24/28|
|blood|22/28|
|bone|25/26|
|breast|25/33|
|central nervous system|47/56|
|cervix|4/4|
|colorectal|16/17|
|esophagus|12/13|
|fibroblast|1/1|
|gastric|13/16|
|kidney|16/21|
|liver|16/20|
|lung|64/75|
|lymphocyte|15/16|
|ovary|21/26|
|pancreas|23/24|
|peripheral nervous system|15/16|
|plasma cell|11/15|
|prostate|1/1|
|skin|18/24|
|soft tissue|7/9|
|thyroid|2/2|
|upper aerodigestive|20/22|
|urinary tract|28/29|
|uterus|4/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 1163
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 7.29 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='LETM1 Expression in NALM6 Cells: 7.29'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>