======= PLEKHM1 ======= == Gene Information == * **Official Symbol**: PLEKHM1 * **Official Name**: pleckstrin homology and RUN domain containing M1 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=9842|9842]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q9Y4G2|Q9Y4G2]] * **Interactions**: [[https://thebiogrid.org/search.php?search=PLEKHM1&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PLEKHM1|Open PubMed]] * **OMIM**: [[https://omim.org/entry/611466|Open OMIM]] == Function Summary == * **Entrez Summary**: 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]. * **UniProt Summary**: 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}. |RUN| |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| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp66|BI-D1870 3.15μM R02 exp66]]|-1.8| No correlation found to any other genes in chemogenomics. 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| == Essentiality in NALM6 == * **Essentiality Rank**: 2600 * **Expression level (log2 read counts)**: 5.71 {{:chemogenomics:nalm6 dist.png?nolink |}}