Mucolipin 1 (MCOLN1)

TRPML1 is a 65 kDa protein associated with mucolipidosis type IV. It's 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 membrane into the cell and so its malfunction causes cellular iron deficiency.

The 65-kD protein contains a transient receptor potential (TRP) cation channel domain and an internal calcium and sodium channel pore region. The TRP domain spans transmembrane segments 3-6, with the putative pore-forming loop between the fifth and sixth segments. There is also a dileucine motif at the C terminus which may serve as a late endosomal/lysosomal targeting motif. The protein is predicted to have both the N- and C-termini within the cytoplasm.