|Other Names||Pleckstrin homology domain-containing family M member 1, PH domain-containing family M member 1, 162 kDa adapter protein, AP162, PLEKHM1, KIAA0356|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||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). Involved in vesicular transport in the osteoclast (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). 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).|
|Cellular Location||Cytoplasm. Endosome membrane. Lysosome. Lysosome membrane. Note=Localizes to the external membrane of autolysosomes (PubMed:25498145). In case of infection colocalizes with Salmonella typhimurium sifA in proximity of Salmonella-containing vacuole (SCV) (PubMed:25500191)|
|Tissue Location||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.|
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The protein encoded by this gene is essential for boneresorption, and may play a critical role in vesicular transport inthe osteoclast. Mutations in this gene are associated withautosomal recessive osteopetrosis type 6 (OPTB6). Alternativelyspliced transcript variants have been found for this gene.
Edwards, T.L., et al. Ann. Hum. Genet. 74(2):97-109(2010)Del Fattore, A., et al. J. Bone Miner. Res. 23(3):380-391(2008)Van Wesenbeeck, L., et al. J. Clin. Invest. 117(4):919-930(2007)Hartel-Schenk, S., et al. Glycoconj. J. 18 (11-12), 915-923 (2001) :
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