Mucolipin-1
Encyclopedia
Mucolipin-1 also known as TRPML1 (transient receptor potential cation channel, mucolipin subfamily, member 1) is a protein
that in humans is encoded by the MCOLN1 gene
. 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
. 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
/lysosome
membrane into the cell and so its malfunction causes cellular iron deficiency.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the MCOLN1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
. It is a member of the small family of the TRPML
TRPML
TRPML comprises a group of three evolutionary related proteins that belongs to the large family of transient receptor potential ion channels...
channels, a subgroup of the large protein family of TRP
TRP
TRP may refer to:* Trooper, Canadian military abbreviation* Tryptophan, an amino acid* The transient receptor potential channel* Time Reading Program, a book sales club run by Time Life Books in the 1960's* Thomas Ruggles Pynchon, American writer...
ion channels.
TRPML1 is a 65 kDa protein associated with mucolipidosis type IV
Mucolipidosis type IV
Mucolipidosis type IV is an autosomal recessive lysosomal storage disorder. Individuals with the disorder have many symptoms including delayed psychomotor development and various ocular aberrations. The disorder is caused by mutations in the MCOLN1 gene, which encodes a non-selective cation...
. 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
Endosome
In biology, an endosome is a membrane-bound compartment inside eukaryotic cells. It is a compartment of the endocytic membrane transport pathway from the plasma membrane to the lysosome. Molecules internalized from the plasma membrane can follow this pathway all the way to lysosomes for...
/lysosome
Lysosome
thumb|350px|Schematic of typical animal cell, showing subcellular components. [[Organelle]]s: [[nucleoli]] [[cell nucleus|nucleus]] [[ribosomes]] [[vesicle |vesicle]] rough [[endoplasmic reticulum]]...
membrane into the cell and so its malfunction causes cellular iron deficiency.
See also
- transient receptor potential cation channel, mucolipin subfamily, member 2 (MCOLN2MCOLN2Mucolipin-2 also known as TRPML2 is a protein that in humans is encoded by the MCOLN2 gene...
) - transient receptor potential cation channel, mucolipin subfamily, member 3 (MCOLN3MCOLN3Mucolipin-3 also known as TRPML3 is a protein that in humans is encoded by the MCOLN3 gene. It is a member of the small family of the 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 chromosome 1 at 1p22.3...
) - mucolipidosis type IVMucolipidosis type IVMucolipidosis type IV is an autosomal recessive lysosomal storage disorder. Individuals with the disorder have many symptoms including delayed psychomotor development and various ocular aberrations. The disorder is caused by mutations in the MCOLN1 gene, which encodes a non-selective cation...
- TRPMLTRPMLTRPML comprises a group of three evolutionary related proteins that belongs to the large family of transient receptor potential ion channels...