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; OMA:MCOLN1 - orthologs
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; ; right adrenal cortex; ; left adrenal gland; ; left adrenal cortex; ; pituitary gland; ; stromal cell of endometrium; ; anterior pituitary; ; granulocyte; ; right lung; ; upper lobe of left lung;
	Top expressed in
	neural layer of retina; ; primary visual cortex; ; superior frontal gyrus; ; yolk sac; ; right kidney; ; muscle of thigh; ; lip; ; cerebellar cortex; ; dentate gyrus of hippocampal formation granule cell; ; tail of embryo;
	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.^[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

^ ^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:". 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. 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 [sic] 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. PMC 4301259. PMID 18794901. {{cite journal}}: Unknown parameter |lastauthoramp= ignored (|name-list-style= suggested) (help)

External links

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

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

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

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[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 [sic] 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. PMC 4301259. PMID 18794901. {{cite journal}}: Unknown parameter |lastauthoramp= ignored (|name-list-style= suggested) (help)

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See also

References

External links