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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