Biology:MCOLN1
 Generic protein structure example |
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 MCOLN1 gene.[1] 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.[2] TRPML1 is believed to channel iron ions across the endosome/lysosome membrane into the cell and so its malfunction causes cellular iron deficiency.[3] It is important in lysosome function and plays a part in processes such as vesicular trafficking, exocytosis and autophagy.[4][5]
Ligands
- Agonists
See also
- transient receptor potential cation channel, mucolipin subfamily, member 2 (MCOLN2)
- transient receptor potential cation channel, mucolipin subfamily, member 3 (MCOLN3)
- mucolipidosis type IV
- TRPML
References
- ↑ "International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels". Pharmacol. Rev. 57 (4): 427–50. December 2005. doi:10.1124/pr.57.4.6. PMID 16382100.
- ↑ "Neurologic, gastric, and opthalmologic [sic] pathologies in a murine model of mucolipidosis type IV". Am. J. Hum. Genet. 81 (5): 1070–83. November 2007. doi:10.1086/521954. PMID 17924347.
- ↑ "The Type IV Mucolipidosis-Associated Protein TRPML1 is an Endo-lysosomal Iron Release Channel". Nature 455 (7215): 992–6. 2008. doi:10.1038/nature07311. PMID 18794901. Bibcode: 2008Natur.455..992D.
- ↑ "TRPML1: an ion channel in the lysosome". Handbook of Experimental Pharmacology 222: 631–45. 2014. doi:10.1007/978-3-642-54215-2_24. ISBN 978-3-642-54214-5. PMID 24756723.
- ↑ "TRPML1: The Ca(2+)retaker of the lysosome". Cell Calcium 69: 112–121. January 2018. doi:10.1016/j.ceca.2017.06.006. PMID 28689729.
- ↑ "Human TRPML1 channel structures in open and closed conformations". Nature 550 (7676): 366–370. October 2017. doi:10.1038/nature24036. PMID 29019983. Bibcode: 2017Natur.550..366S.
External links
- GeneReviews/NIH/NCBI/UW entry on Mucolipidosis IV
- mucolipin-1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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