MCOLN1

Mucolipin 1
Identifiers
Symbols	MCOLN1; MG-2; ML4; MLIV; MST080; TRP-ML1; TRPM-L1; TRPML1
External IDs	OMIM: 605248 MGI: 1890498 HomoloGene: 10744 IUPHAR: TRPML1 GeneCards: MCOLN1 Gene
Gene Ontology Molecular function • cation channel activity • iron ion transmembrane transporter activity Cellular component • cytoplasm • lysosomal membrane • endosome • plasma membrane • integral to plasma membrane • endosome membrane • integral to membrane • late endosome membrane Biological process • cation transport • calcium ion transport • cellular iron ion homeostasis • transferrin transport • iron ion transmembrane transport • transmembrane transport Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	57192	94178
Ensembl	ENSG00000090674	ENSMUSG00000004567
UniProt	Q9GZU1	Q99J21
RefSeq (mRNA)	NM_020533	NM_053177.1
RefSeq (protein)	NP_065394	NP_444407.1
Location (UCSC)	Chr 19: 7.59 – 7.6 Mb	Chr 8: 3.5 – 3.52 Mb
PubMed search	[1]	[2]

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.^[1] 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.^[2] TRPML1 is believed to channel iron ions across the endosome/lysosome membrane into the cell and so its malfunction causes cellular iron deficiency.^[3]

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. ^ 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. 
2. ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2265643. 
3. ^ Dong, X, Cheng, X., Mills, E., Delling, M., Wang, F., Kurz, T. and Xu, H. (2008). "The Type IV Mucolipidosis-Associated Protein TRPML1 is an Endo-lysosomal Iron Release Channel". Nature 455 (7215): 992. doi:10.1038/nature07311. PMID 18794901. 

External links

• GeneReviews/NIH/NCBI/UW entry on Mucolipidosis IV
• MeSH mucolipin-1+protein,+human