Mucolipin-3 also known as TRPML3 (transient receptor potential cation channel, mucolipin subfamily, member 3) is a protein that in humans is encoded by the MCOLN3gene.1 It is a member of the small family of the TRPML channels, a subgroup of the large protein family of TRP ion channels.2
In human, the MCOLN3 gene resides on the short arm of chromosome 1 at 1p22.3. The gene is split in 12 exons, which entail the open reading frame of 1659 nucleotides. The encoded protein, TRPML3, has 553 amino acid with a predicted molecular weight of ≈64 kDa. Computational analyses of the secondary structure predict the presence of six transmembrane domains, an ion transport motif (PF00520) and a transient receptor potential motif (PS50272). In the mouse, Mcoln3, is located on the distal end of chromosome 3 at cytogenetic band qH2. Human and mouse TRPML3 proteins share 91% sequence identity.3 All vertebrate species, for which a genomic sequence is available, harbor the MCOLN3 gene. Homologs of MCOLN3 are also present in the genome of insects (Drosophila melanogaster), nematodes (Caenorhabditis elegans), sea urchin (Strongylocentrotus purpuratus) and lower organisms including Hydra and Dictyostelium.
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transient receptor potential cation channel, mucolipin subfamily, member 1 (MCOLN1)
transient receptor potential cation channel, mucolipin subfamily, member 2 (MCOLN2)
^ abClapham DE, Julius D, Montell C, Schultz G (December 2005). "International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels". Pharmacol. Rev.57 (4): 427–50. doi:10.1124/pr.57.4.6. PMID16382100.
^Noben-Trauth K (January 2011). "Chapter 13: TRPML3". In Islam MS. Transient Receptor Potential Channels. Advances in Experimental Medicine and Biology 704. Berlin: Springer. p. 700. ISBN978-94-007-0264-6.
Venkatachalam K, Hofmann T, Montell C (2006). "Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1". J. Biol. Chem.281 (25): 17517–27. doi:10.1074/jbc.M600807200. PMID16606612.
Fares H, Greenwald I (2001). "Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog". Nat. Genet.28 (1): 64–8. doi:10.1038/88281. PMID11326278.
Kim HJ, Li Q, Tjon-Kon-Sang S et al. (2007). "Gain-of-function mutation in TRPML3 causes the mouse Varitint-Waddler phenotype". J. Biol. Chem.282 (50): 36138–42. doi:10.1074/jbc.C700190200. PMID17962195.