MCOLN1

MCOLN1
Identifiers
Aliases	MCOLN1, MG-2, ML4, MLIV, MST080, MSTP080, TRP-ML1, TRPM-L1, TRPML1, mucolipin 1, ML1
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	3,515,232 bp
Gene ontology
Molecular function	• cation channel activity; • NAADP-sensitive calcium-release channel activity; • iron ion transmembrane transporter activity; • calcium channel activity; • protein binding;
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;
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;
	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.^[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]

References[edit]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000090674 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000004567 - Ensembl, May 2017
^ "Human PubMed Reference:".
^ "Mouse PubMed Reference:".
^ 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. PMID 16382100.
^ Venugopal B, Browning MF, Curcio-Morelli C, Varro A, Michaud N, Nanthakumar N, Walkley SU, Pickel J, Slaugenhaupt SA (November 2007). "Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV". Am. J. Hum. Genet. 81 (5): 1070–83. doi:10.1086/521954. PMC 2265643 . PMID 17924347.
^ Dong X, Cheng X, Mills E, Delling M, Wang F, Kurz T & Xu H (2008). "The Type IV Mucolipidosis-Associated Protein TRPML1 is an Endo-lysosomal Iron Release Channel". Nature. 455 (7215): 992–6. doi:10.1038/nature07311. PMID 18794901.

External links[edit]

GeneReviews/NIH/NCBI/UW entry on Mucolipidosis IV
mucolipin-1 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

This biochemistry article is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000090674 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000004567 - Ensembl, May 2017

[3] "Human PubMed Reference:".

[4] "Mouse PubMed Reference:".

[pmid16382100-5] 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. PMID 16382100.

[pmid17924347-6] Venugopal B, Browning MF, Curcio-Morelli C, Varro A, Michaud N, Nanthakumar N, Walkley SU, Pickel J, Slaugenhaupt SA (November 2007). "Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV". Am. J. Hum. Genet. 81 (5): 1070–83. doi:10.1086/521954. PMC 2265643 . PMID 17924347.

[7] Dong X, Cheng X, Mills E, Delling M, Wang F, Kurz T & Xu H (2008). "The Type IV Mucolipidosis-Associated Protein TRPML1 is an Endo-lysosomal Iron Release Channel". Nature. 455 (7215): 992–6. doi:10.1038/nature07311. PMID 18794901.

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MCOLN1

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