MCOLN3
Encyclopedia
Mucolipin-3 also known as TRPML3 (transient receptor potential cation channel, mucolipin subfamily, member 3) 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.
1 at 1p22.3. The gene is split in 12 exons, which entail the open reading frame of 1659 nucleotides. The encoded protein, TRPML3, has 553 amino acid with a predicted molecular weight of ≈64 kDa
. Computational analyses of the secondary structure predict the presence of six transmembrane domains, an ion transport motif (PF00520) and a transient receptor potential motif (PS50272).
In the mouse, Mcoln3, is located on the distal end of chromosome
3 at cytogenetic band qH2. Human and mouse TRPML3 proteins share 91% sequence identity.
All vertebrate species, for which a genomic sequence is available, harbor the MCOLN3 gene. Homologs of MCOLN3 are also present in the genome of insects (Drosophila melanogaster
), nematodes (Caenorhabditis elegans
), sea urchin (Strongylocentrotus purpuratus
) and lower organisms including Hydra and Dictyostelium.
death and deafness.
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 MCOLN3 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.
Gene
In human, the MCOLN3 gene resides on the short arm of chromosomeChromosome
A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...
1 at 1p22.3. The gene is split in 12 exons, which entail the open reading frame of 1659 nucleotides. The encoded protein, TRPML3, has 553 amino acid with a predicted molecular weight of ≈64 kDa
KDA
KDA may refer to:* Karachi Development Authority* Kongsberg Defence & Aerospace* Kotelawala Defence Academy* Kramer Design Associates* Lithium diisopropylamide, KDA is the potassium analogue of lithium diisopropylamideOr kDa may refer to:...
. Computational analyses of the secondary structure predict the presence of six transmembrane domains, an ion transport motif (PF00520) and a transient receptor potential motif (PS50272).
In the mouse, Mcoln3, is located on the distal end of chromosome
Chromosome
A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...
3 at cytogenetic band qH2. Human and mouse TRPML3 proteins share 91% sequence identity.
All vertebrate species, for which a genomic sequence is available, harbor the MCOLN3 gene. Homologs of MCOLN3 are also present in the genome of insects (Drosophila melanogaster
Drosophila melanogaster
Drosophila melanogaster is a species of Diptera, or the order of flies, in the family Drosophilidae. The species is known generally as the common fruit fly or vinegar fly. Starting from Charles W...
), nematodes (Caenorhabditis elegans
Caenorhabditis elegans
Caenorhabditis elegans is a free-living, transparent nematode , about 1 mm in length, which lives in temperate soil environments. Research into the molecular and developmental biology of C. elegans was begun in 1974 by Sydney Brenner and it has since been used extensively as a model...
), sea urchin (Strongylocentrotus purpuratus
Strongylocentrotus purpuratus
The purple sea urchin, Strongylocentrotus purpuratus, lives along the eastern edge of the Pacific Ocean extending from Ensenada, Mexico to British Columbia, Canada. This sea urchin species is deep purple in color and lives in lower intertidal and nearshore subtidal communities...
) and lower organisms including Hydra and Dictyostelium.
Phenotypes
Mutations of the MCOLN3 gene in mice result in auditory hair cellHair cell
Hair cells are the sensory receptors of both the auditory system and the vestibular system in all vertebrates. In mammals, the auditory hair cells are located within the organ of Corti on a thin basilar membrane in the cochlea of the inner ear...
death and deafness.
See also
- transient receptor potential cation channel, mucolipin subfamily, member 1 (MCOLN1)
- 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...
)