Mucolipin-1 also known as TRPML1 (transient receptor potential cation channel, mucolipin subfamily, member 1) is a
protein that in humans is encoded by the MCOLN1gene.[5] It is a member of the small family of the
TRPML channels, a subgroup of the large protein family of
TRP ion channels.
TRPML1 is a 65 kDa protein associated with
mucolipidosis type IV. Its predicted structure includes six transmembrane domains, a transient receptor potential (TRP) cation-channel domain, and an internal channel pore.[6] TRPML1 is believed to channel iron ions across the
endosome/
lysosome membrane into the cell and so its malfunction causes cellular iron deficiency.[7] It is important in lysosome function and plays a part in processes such as
vesicular trafficking,
exocytosis and
autophagy.[8][9]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Clapham 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.
S2CID17936350.
^Wang W, Zhang X, Gao Q, Xu H (2014). "TRPML1: an ion channel in the lysosome". Mammalian Transient Receptor Potential (TRP) Cation Channels. Handbook of Experimental Pharmacology. Vol. 222. pp. 631–45.
doi:
10.1007/978-3-642-54215-2_24.
ISBN978-3-642-54214-5.
PMID24756723.
^Di Paola S, Scotto-Rosato A, Medina DL (January 2018). "TRPML1: The Ca(2+)retaker of the lysosome". Cell Calcium. 69: 112–121.
doi:
10.1016/j.ceca.2017.06.006.
PMID28689729.