PLEKHM1 [The Human Chemical-Genetic Interaction Map Project]

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======= PLEKHM1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PLEKHM1
  * **<color #00a2e8>Official Name</color>**: pleckstrin homology and RUN domain containing M1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=9842|9842]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9Y4G2|Q9Y4G2]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PLEKHM1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PLEKHM1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/611466|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Proposed to act as a multivalent adapter protein that regulates Rab7-dependent and HOPS complex-dependent fusion events in the endolysosomal system and couples autophagic and the endocytic trafficking pathways. Required for late stages of endolysosomal maturation, facilitating both endocytosis-mediated degradation of growth factor receptors and autophagosome clearance. Seems to be involved in the terminal maturation of autophagosomes and to mediate autophagosome-lysosome fusion (PubMed:25498145). Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts (By similarity). May be involved in negative regulation of endocytic transport from early endosome to late endosome/lysosome implicating its association with Rab7 (PubMed:20943950). May have a role in sialyl-lex-mediated transduction of apoptotic signals (PubMed:12820725). Involved in bone resorption (By similarity). In case of infection contributes to Salmonella typhimurium pathogenesis by supporting the integrity of the Salmonella- containing vacuole (SCV) probably in concert with the HOPS complex and Rab7 (PubMed:25500191). {ECO:0000250|UniProtKB:Q5PQS0, ECO:0000250|UniProtKB:Q7TSI1, ECO:0000269|PubMed:12820725, ECO:0000269|PubMed:20943950, ECO:0000269|PubMed:25498145, ECO:0000269|PubMed:25500191, ECO:0000305}.

<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'>
|RUN|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of ruffle assembly|
|positive regulation of bone resorption|
|positive regulation of bone remodeling|
|regulation of ruffle assembly|
|positive regulation of tissue remodeling|
|regulation of bone resorption|
|lysosome localization|
|regulation of bone remodeling|
|regulation of tissue remodeling|
|positive regulation of plasma membrane bounded cell projection assembly|
|regulation of plasma membrane bounded cell projection assembly|
|regulation of cell projection assembly|
|endosome membrane|
|process utilizing autophagic mechanism|
|autophagy|
|lysosomal membrane|
|positive regulation of cell projection organization|
|positive regulation of cellular component biogenesis|
|organelle localization|
|intracellular membrane-bounded organelle|
|regulation of plasma membrane bounded cell projection organization|
|regulation of cell projection organization|
|nucleolus|
|regulation of cellular component biogenesis|
|positive regulation of cellular component organization|
|protein transport|
|peptide transport|
|amide transport|
|establishment of protein localization|
|intracellular signal transduction|
|positive regulation of multicellular organismal process|
|cellular catabolic process|
|nitrogen compound transport|
</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:exp66|BI-D1870 3.15μM R02 exp66]]|-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>**: 2600
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.71 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='PLEKHM1 Expression in NALM6 Cells: 5.71'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>