Mucolipin-1 (ML1) also known as TRPML1 (transient receptor potential cation channel, mucolipin subfamily, member 1) is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''MCOLN1''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
It is a member of the small family of the
TRPML channels, a subgroup of the large protein family of
TRP ion channels.
TRPML1 is a 65 kDa protein associated with
mucolipidosis type IV
Mucolipidosis type IV (ML IV, ganglioside sialidase deficiency, or ML4) is an autosome, autosomal dominance (genetics), recessive lysosomal storage disorder. Individuals with the disorder have many symptoms including delayed psychomotor developmen ...
. Its 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
Endosomes are a collection of intracellular sorting organelles in eukaryotic cells. They are parts of the endocytic membrane transport pathway originating from the trans Golgi network. Molecules or ligands internalized from the plasma membra ...
/
lysosome
A lysosome () is a membrane-bound organelle that is found in all mammalian cells, with the exception of red blood cells (erythrocytes). There are normally hundreds of lysosomes in the cytosol, where they function as the cell’s degradation cent ...
membrane into the cell and so its malfunction causes cellular iron deficiency.
It is important in lysosome function and plays a part in processes such as
vesicular trafficking,
exocytosis
Exocytosis is a term for the active transport process that transports large molecules from cell to the extracellular area. Hormones, proteins and neurotransmitters are examples of large molecules that can be transported out of the cell. Exocytosis ...
and
autophagy
Autophagy (or autophagocytosis; from the Greek language, Greek , , meaning "self-devouring" and , , meaning "hollow") is the natural, conserved degradation of the cell that removes unnecessary or dysfunctional components through a lysosome-depe ...
.
Ligands
;Agonists
*
ML-SA1
*
MK6-83
See also
* transient receptor potential cation channel, mucolipin subfamily, member 2 (
MCOLN2)
* transient receptor potential cation channel, mucolipin subfamily, member 3 (
MCOLN3)
*
mucolipidosis type IV
Mucolipidosis type IV (ML IV, ganglioside sialidase deficiency, or ML4) is an autosome, autosomal dominance (genetics), recessive lysosomal storage disorder. Individuals with the disorder have many symptoms including delayed psychomotor developmen ...
*
TRPML
References
External links
GeneReviews/NIH/NCBI/UW entry on Mucolipidosis IV*
{{Transient receptor potential channel modulators