MCOLN1

MCOLN1
Identifiers
Aliases	MCOLN1, MG-2, ML4, MLIV, MST080, MSTP080, TRP-ML1, TRPM-L1, TRPML1, mucolipin 1, ML1, mucolipin TRP cation channel 1
External IDs	OMIM: 605248 MGI: 1890498 HomoloGene: 10744 GeneCards: MCOLN1
Gene location (Human)
Chr.	Chromosome 19 (human)
End	7,534,009 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	3,565,232 bp
RNA expression pattern
	Top expressed in
	spleen; ; left adrenal gland; ; pituitary gland; ; stromal cell of endometrium; ; anterior pituitary; ; right lung; ; upper lobe of left lung; ; gastric mucosa; ; monocyte; ; prefrontal cortex;
	Top expressed in
	superior frontal gyrus; ; yolk sac; ; lip; ; cerebellar cortex; ; proximal tubule; ; lens; ; interventricular septum; ; neural tube; ; facial motor nucleus; ; duodenum;
	More reference expression data
	n/a
Gene ontology
Molecular function	cation channel activity; NAADP-sensitive calcium-release channel activity; iron ion transmembrane transporter activity; calcium channel activity; protein binding; lipid binding; intracellular phosphatidylinositol-3,5-bisphosphate-sensitive cation channel activity; ligand-gated calcium channel activity;
Cellular component	lysosomal membrane; endosome membrane; integral component of membrane; integral component of plasma membrane; membrane; receptor complex; endosome; late endosome membrane; plasma membrane; cytosol; phagocytic cup; lysosome; late endosome; phagocytic vesicle membrane; cytoplasmic vesicle; cell projection; cytoplasmic vesicle membrane;
Biological process	calcium ion transport; transferrin transport; release of sequestered calcium ion into cytosol; ion transport; cation transport; iron ion transmembrane transport; autophagosome maturation; calcium ion transmembrane transport; transport; adaptive immune response; immune system process; calcium-mediated signaling; protein homotetramerization; cellular response to calcium ion; cellular response to pH; cation transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	57192
	94178
	ENSG00000090674
	ENSMUSG00000004567
	Q9GZU1
	Q99J21
	NM_020533
	NM_053177
	NP_065394
	NP_444407
	Wikidata
View/Edit Human	View/Edit Mouse

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. 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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