Mcoln3

MCOLN3
Identifiers
Aliases	MCOLN3, TRP-ML3, TRPML3, mucolipin 3, mucolipin TRP cation channel 3
External IDs	OMIM: 607400; MGI: 1890500; HomoloGene: 10118; GeneCards: MCOLN3; OMA: MCOLN3 - orthologs
Gene location ( Human)
Chr.	Chromosome 1 (human)
End	85,048,500 bp
Gene location ( Mouse)
Chr.	Chromosome 3 (mouse)
End	145,847,561 bp
RNA expression pattern
	Top expressed in
	right adrenal cortex; ; left adrenal gland; ; left adrenal cortex; ; corpus epididymis; ; germinal epithelium; ; pituitary gland; ; anterior pituitary; ; skin of thigh; ; body of pancreas; ; skin of hip;
	Top expressed in
	vestibular membrane of cochlear duct; ; epithelium of small intestine; ; stria vascularis; ; vestibular sensory epithelium; ; yolk sac; ; utricle; ; iris; ; migratory enteric neural crest cell; ; medullary collecting duct; ; right kidney;
	More reference expression data
	n/a
Gene ontology
Molecular function	calcium channel activity; lipid binding; cation channel activity; NAADP-sensitive calcium-release channel activity;
Cellular component	plasma membrane; membrane; cytoplasm; integral component of membrane; autophagosome membrane; lysosome; lysosomal membrane; endosome; cytoplasmic vesicle; early endosome membrane; late endosome membrane;
Biological process	inner ear auditory receptor cell differentiation; ion transport; locomotory behavior; calcium ion transmembrane transport; release of sequestered calcium ion into cytosol;
	Sources: Amigo / QuickGO
Orthologs
	55283
	171166
	ENSG00000055732
	ENSMUSG00000036853
	Q8TDD5
	Q8R4F0
	NM_001253693; NM_018298
	NM_134160
	NP_001240622; NP_060768
	NP_598921
	Wikidata
View/Edit Human	View/Edit Mouse

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.^[5] It is a member of the small family of the TRPML channels, a subgroup of the large protein family of TRP ion channels.^[6]

Gene

In human, the MCOLN3 gene resides on the short arm of chromosome 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.^[7] 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.

Expression

Function

TRPML3 is an inwardly-rectifying cation channel.^[5]

Genetics

Phenotypes

Mutations of the MCOLN3 gene in mice result in auditory hair cell death and deafness.^[8]

Ligands

Agonists (channel activators)

ML-SA1 (non selective vs TRPML1)
SN-2 (highly selective for TRPML3)

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000055732 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000036853 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b Clapham DE, Julius D, Montell C, Schultz G (December 2005). "International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels". Pharmacol. Rev. 57 (4): 427–50. doi: 10.1124/pr.57.4.6. PMID 16382100. S2CID 17936350.
^ Noben-Trauth K (January 2011). "Chapter 13: TRPML3". In Islam MS (ed.). Transient Receptor Potential Channels. Advances in Experimental Medicine and Biology. Vol. 704. Berlin: Springer. p. 700. ISBN 978-94-007-0264-6.
^ Noben-Trauth, Konrad (2011). "The TRPML3 Channel: From Gene to Function". Transient Receptor Potential Channels. Advances in Experimental Medicine and Biology. Vol. 704. pp. 229–237. doi: 10.1007/978-94-007-0265-3_13. ISBN 978-94-007-0264-6. PMID 21290299.
^ Nagata K, Zheng L, Madathany T, Castiglioni AJ, Bartles JR, García-Añoveros J (January 2008). "The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degeneration". Proc. Natl. Acad. Sci. U.S.A. 105 (1): 353–8. Bibcode: 2008PNAS..105..353N. doi: 10.1073/pnas.0707963105. PMC 2224216. PMID 18162548.

External links

MCOLN3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This membrane protein–related article is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000055732 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000036853 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid16382100-5] Clapham DE, Julius D, Montell C, Schultz G (December 2005). "International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels". Pharmacol. Rev. 57 (4): 427–50. doi: 10.1124/pr.57.4.6. PMID 16382100. S2CID 17936350.

[Noben-Trauth_2011-6] Noben-Trauth K (January 2011). "Chapter 13: TRPML3". In Islam MS (ed.). Transient Receptor Potential Channels. Advances in Experimental Medicine and Biology. Vol. 704. Berlin: Springer. p. 700. ISBN 978-94-007-0264-6.

[7] Noben-Trauth, Konrad (2011). "The TRPML3 Channel: From Gene to Function". Transient Receptor Potential Channels. Advances in Experimental Medicine and Biology. Vol. 704. pp. 229–237. doi: 10.1007/978-94-007-0265-3_13. ISBN 978-94-007-0264-6. PMID 21290299.

[pmid18162548-8] Nagata K, Zheng L, Madathany T, Castiglioni AJ, Bartles JR, García-Añoveros J (January 2008). "The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degeneration". Proc. Natl. Acad. Sci. U.S.A. 105 (1): 353–8. Bibcode: 2008PNAS..105..353N. doi: 10.1073/pnas.0707963105. PMC 2224216. PMID 18162548.

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