MCOLN1

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Protein-coding gene in the species Homo sapiens

title: "MCOLN1" type: doc version: 1 created: 2026-02-28 author: "Wikipedia contributors" status: active scope: public description: "Protein-coding gene in the species Homo sapiens" topic_path: "uncategorized" source: "https://en.wikipedia.org/wiki/MCOLN1" license: "CC BY-SA 4.0" wikipedia_page_id: 0 wikipedia_revision_id: 0

::summary Protein-coding gene in the species Homo sapiens ::

Mucolipin-1 **(ML1) **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. 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. TRPML1 is believed to channel iron ions across the endosome/lysosome membrane into the cell and so its malfunction causes cellular iron deficiency. It is important in lysosome function and plays a part in processes such as vesicular trafficking, exocytosis and autophagy.

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References

  1. (December 2005). "International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels". Pharmacol. Rev..
  2. (November 2007). "Neurologic, gastric, and {{sic". Am. J. Hum. Genet..
  3. (2008). "The Type IV Mucolipidosis-Associated Protein TRPML1 is an Endo-lysosomal Iron Release Channel". Nature.
  4. (2014). "Mammalian Transient Receptor Potential (TRP) Cation Channels".
  5. (January 2018). "TRPML1: The Ca(2+)retaker of the lysosome". Cell Calcium.
  6. (October 2017). "Human TRPML1 channel structures in open and closed conformations". Nature.

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