MCOLN1

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.

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)[1] Band 19p13.2 Start 7,522,624 bp[1] End 7,534,009 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 A1.1|8 1.92 cM Start 3,500,457 bp[2] End 3,515,232 bp[2]
Gene ontology Molecular function • cation channel activity • NAADP-sensitive calcium-release channel activity • GO:0097689 iron ion transmembrane transporter activity • calcium channel activity • GO:0001948 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 • cell 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 • GO:0000046 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: 3.5 – 3.52 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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]

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.
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.

External links

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