MCOLN1, Official Symbol MCOLN1provided by HGNC Official Full Name mucolipin TRP cation channel 1provided by HGNC Primary source HGNC:HGNC:13356 See related Ensembl:ENSG00000090674 MIM:605248; AllianceGenome:HGNC:13356 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ML1; ML4; MG-2; MLIV; MST080; TRPML1; MSTP080; TRP-ML1; TRPM-L1 Summary This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in spleen (RPKM 28.6), adrenal (RPKM 14.9) and 24 other tissues See more Orthologs mouse all