PLEKHM1 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. Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts. May be involved in negative regulation of endocytic transport from early endosome to late endosome/lysosome implicating its association with Rab7. May have a role in sialyl-lex-mediated transduction of apoptotic signals. Involved in bone resorption. 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. Expressed in placenta, liver, prostate, thymus, spleen, ovary, colon, colon carcinoma and peripheral blood lymphocytes (PBL). Weakly expressed in brain, lung, kidney, and testis. No expression in heart, skeletal muscle, pancreas and small intestine. Predominantly expressed in the breast carcinoma cell line MCF-7. Note: This description may include information from UniProtKB.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 17q21.31
Cellular Component:  endosome membrane; intracellular membrane-bounded organelle; lysosomal membrane; nucleolus
Molecular Function:  metal ion binding
Biological Process:  autophagy; intracellular signal transduction; lysosome localization; positive regulation of bone resorption; positive regulation of ruffle assembly; protein transport
Disease: Osteopetrosis, Autosomal Dominant 3; Osteopetrosis, Autosomal Recessive 6
Reference #:  Q9Y4G2 (UniProtKB)
Alt. Names/Synonyms: 162 kDa adapter protein; AP162; B2; KIAA0356; OPTB6; PH domain-containing family M member 1; PKHM1; pleckstrin homology domain containing, family M (with RUN domain) member 1; Pleckstrin homology domain-containing family M member 1; PLEKHM1
Gene Symbols: PLEKHM1
Molecular weight: 117,443 Da
Basal Isoelectric point: 6.08  Predict pI for various phosphorylation states
Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology® Total Proteins
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PLEKHM1

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene