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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) Band 19p13.2 Start 7,522,624 bp End 7,534,009 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8 A1.1|8 1.92 cM Start 3,550,457 bp End 3,565,232 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 57192 94178 Ensembl ENSG00000090674 ENSMUSG00000004567 UniProt Q9GZU1 Q99J21 RefSeq (mRNA) NM_020533 NM_053177 RefSeq (protein) NP_065394 NP_444407 Location (UCSC) Chr 19: 7.52 – 7.53 Mb Chr 8: 3.55 – 3.57 Mb PubMed search
Wikidata
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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.

Ligands

Agonists

• ML-SA1
• MK6-83

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

1. ^ GRCh38: Ensembl release 89: ENSG00000090674 – Ensembl, May 2017
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.
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. S2CID 17936350.
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. Bibcode:2008Natur.455..992D. doi:10.1038/nature07311. PMC 4301259. PMID 18794901.
8. Wang W, Zhang X, Gao Q, Xu H (2014). "TRPML1: an ion channel in the lysosome". Mammalian Transient Receptor Potential (TRP) Cation Channels. Handbook of Experimental Pharmacology. Vol. 222. pp. 631–45. doi:10.1007/978-3-642-54215-2_24. ISBN 978-3-642-54214-5. PMID 24756723.
9. Di Paola S, Scotto-Rosato A, Medina DL (January 2018). "TRPML1: The Ca(2+)retaker of the lysosome". Cell Calcium. 69: 112–121. doi:10.1016/j.ceca.2017.06.006. PMID 28689729.
10. Schmiege P, Fine M, Blobel G, Li X (October 2017). "Human TRPML1 channel structures in open and closed conformations". Nature. 550 (7676): 366–370. Bibcode:2017Natur.550..366S. doi:10.1038/nature24036. PMC 5920536. PMID 29019983.

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)

• Genes on human chromosome 19