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.