MCOLN3

Mucolipin-3 also known as TRPML3 (transient receptor potential cation channel, mucolipin subfamily, member 3) is a is_associated_with::protein that in humans is encoded by the MCOLN3 is_associated_with::gene. It is a member of the small family of the is_associated_with::TRPML channels, a subgroup of the large protein family of TRP ion channels.

Gene
In human, the MCOLN3 gene resides on the short arm of is_associated_with::chromosome 1 at 1p22.3. The gene is split in 12 is_associated_with::exons, which entail the open reading frame of 1659 nucleotides. The encoded protein, TRPML3, has 553 amino acid with a predicted molecular weight of ≈64 is_associated_with::kDa. Computational analyses of the secondary structure predict the presence of six is_associated_with::transmembrane domains, an ion transport motif (PF00520) and a transient receptor potential motif (PS50272). In the mouse, Mcoln3, is located on the distal end of is_associated_with::chromosome 3 at cytogenetic band qH2. Human and mouse TRPML3 proteins share 91% sequence identity. All vertebrate species, for which a genomic sequence is available, harbor the MCOLN3 gene. Homologs of MCOLN3 are also present in the genome of insects (is_associated_with::Drosophila melanogaster), nematodes (is_associated_with::Caenorhabditis elegans), sea urchin (is_associated_with::Strongylocentrotus purpuratus) and lower organisms including Hydra and Dictyostelium.

Function
TRPML3 is an inwardly-rectifying cation channel.

Phenotypes
Mutations of the MCOLN3 gene in mice result in auditory is_associated_with::hair cell death and is_associated_with::deafness.