Gene Symbol: Mcoln1
Description: mucolipin 1
Vergarajauregui S, Martina J, Puertollano R. LAPTMs regulate lysosomal function and interact with mucolipin 1: new clues for understanding mucolipidosis type IV. J Cell Sci. 2011;124:459-68 pubmed publisher
Loss-of-function mutations in mucolipin 1 (MCOLN1) result in mucolipidosis type IV (MLIV), a lysosomal storage disorder characterized by severe mental and psychomotor retardation...
Bargal R, Avidan N, Ben Asher E, Olender Z, Zeigler M, Frumkin A, et al
. Identification of the gene causing mucolipidosis type IV. Nat Genet. 2000;26:118-23 pubmed
..Thus, positional cloning was an alternative to identify the MLIV gene. We report here the identification of a new gene in this human chromosomal region in which MLIV-specific mutations were identified...
Zhang F, Li P. Reconstitution and characterization of a nicotinic acid adenine dinucleotide phosphate (NAADP)-sensitive Ca2+ release channel from liver lysosomes of rats. J Biol Chem. 2007;282:25259-69 pubmed
..In addition, blockade of TRP-ML1 (transient receptor potential-mucolipin 1) protein by anti-TRP-ML1 antibody markedly attenuated NAADP-induced activation of these lysosomal Ca2+ channels...
Curcio Morelli C, Charles F, Micsenyi M, Cao Y, Venugopal B, Browning M, et al
. Macroautophagy is defective in mucolipin-1-deficient mouse neurons. Neurobiol Dis. 2010;40:370-7 pubmed publisher
..In this study we report the development of a neuronal cell model generated from cerebrum of Mcoln1(-/-) embryos...
Wu L, Sweet T, Clapham D. International Union of Basic and Clinical Pharmacology. LXXVI. Current progress in the mammalian TRP ion channel family. Pharmacol Rev. 2010;62:381-404 pubmed publisher
..Here we review the recent progress on the physiology, pharmacology and pathophysiological function of mammalian TRP channels. ..
Schmiege P, Fine M, Blobel G, Li X. Human TRPML1 channel structures in open and closed conformations. Nature. 2017;550:366-370 pubmed publisher
Transient receptor potential mucolipin 1 (TRPML1) is a Ca2+-releasing cation channel that mediates the calcium signalling and homeostasis of lysosomes...
Chen Q, She J, Zeng W, Guo J, Xu H, Bai X, et al
. Structure of mammalian endolysosomal TRPML1 channel in nanodiscs. Nature. 2017;550:415-418 pubmed publisher
Transient receptor potential mucolipin 1 (TRPML1) is a cation channel located within endosomal and lysosomal membranes...