PLEKHM1

Gene Information

Official Symbol: PLEKHM1
Official Name: pleckstrin homology and RUN domain containing M1
Aliases and Previous Symbols: N/A
Entrez ID: 9842
UniProt: Q9Y4G2
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: 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}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics 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

Essentiality in NALM6

Essentiality Rank: 2600
Expression level (log2 read counts): 5.71

Expression Distribution

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