Recombinant Human Mucolipin-1 (MCOLN1), Truncated

Uniprot Id

Q9GZU1

Target Species

Human

Target Name

MCOLN1

Target Full Name

Mucolipin-1

Target Function

Nonselective cation channel probably playing a role in the regulation of membrane trafficking events and of metal homeostasis. Proposed to play a major role in Ca(2+) release from late endosome and lysosome vesicles to the cytoplasm, which is important for many lysosome-dependent cellular events, including the fusion and trafficking of these organelles, exocytosis and autophagy. Required for efficient uptake of large particles in macrophages in which Ca(2+) release from the lysosomes triggers lysosomal exocytosis. May also play a role in phagosome-lysosome fusion. Involved in lactosylceramide trafficking indicative for a role in the regulation of late endocytic membrane fusion/fission events. By mediating lysosomal Ca(2+) release is involved in regulation of mTORC1 signaling and in mTOR/TFEB-dependent lysosomal adaptation to environmental cues such as nutrient levels. Seems to act as lysosomal active oxygen species (ROS) sensor involved in ROS-induced TFEB activation and autophagy. Functions as a Fe(2+) permeable channel in late endosomes and lysosomes. Proposed to play a role in zinc homeostasis probably implicating its association with TMEM163 In adaptive immunity, TRPML2 and TRPML1 may play redundant roles in the function of the specialized lysosomes of B cells.; May contribute to cellular lipase activity within the late endosomal pathway or at the cell surface which may be involved in processes of membrane reshaping and vesiculation, especially the growth of tubular structures. However, it is not known, whether it conveys the enzymatic activity directly, or merely facilitates the activity of an associated phospholipase

Target Involvement

Mucolipidosis 4 (ML4)

Target Subcellular Location

Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein. Cell projection, phagocytic cup. Cytoplasmic vesicle, phagosome membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Target Protein Families

Transient receptor (TC 1.A.4) family, Polycystin subfamily, MCOLN1 sub-subfamily

Target Tissue Specificity

Widely expressed in adult and fetal tissues.

Target Synonyms

MCOLN1; ML4; TRPML1; MSTP080; Mucolipin-1; ML1; MG-2; Mucolipidin; Transient receptor potential channel mucolipin 1; TRPML1