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
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
	Left adrenal gland; ; corpus epididymis; ; germinal epithelium; ; pituitary gland; ; anterior pituitary; ; body of pancreas; ; caput epididymis; ; visceral pleura; ; Achilles tendon; ; canal of the cervix;
	Top expressed in
	stria vascularis; ; yolk sac; ; utricle; ; iris; ; medullary collecting duct; ; hair follicle; ; otic placode; ; respiratory epithelium; ; olfactory epithelium; ; cochlea;
	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

Last updated March 04, 2023

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

‹ The template below ( Empty section ) is being considered for deletion. See templates for discussion to help reach a consensus. ›

Function

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

Genetics

‹ The template below ( Empty section ) is being considered for deletion. See templates for discussion to help reach a consensus. ›

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)

Related Research Articles

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 channel, mucolipin1. These mutations disrupt cellular functions and lead to a neurodevelopmental disorder through an unknown mechanism. Researchers dispute the physiological role of the protein product and which ion it transports.

Mucolipin-1 also known as TRPML1 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.

Short transient receptor potential channel 5 (TrpC5) also known as transient receptor protein 5 (TRP-5) is a protein that in humans is encoded by the TRPC5 gene. TrpC5 is subtype of the TRPC family of mammalian transient receptor potential ion channels.

Transient receptor potential cation channel subfamily M member 3 is a protein that in humans is encoded by the TRPM3 gene.

Prokineticin receptor 1, also known as PKR₁, is a human protein encoded by the PROKR1 gene.

G-protein coupled receptor 161 is a protein that in humans is encoded by the GPR161 gene.

Cytoplasmic tyrosine-protein kinase BMX is an enzyme that in humans is encoded by the BMX gene.

Gamma-aminobutyric acid receptor subunit beta-1 is a protein that in humans is encoded by the GABRB1 gene.

Anthrax toxin receptor 2 is a protein that in humans is encoded by the ANTXR2 gene.

Aquaporin-5 (AQP-5) is a protein that in humans is encoded by the AQP5 gene.

Disks large-associated protein 4 (DAP-4) also known as SAP90/PSD-95-associated protein 4 (SAPAP-4) is a protein that in humans is encoded by the DLGAP4 gene.

Olfactory receptor 6A2 is a protein that in humans is encoded by the OR6A2 gene. It is Class II (tetrapod-specific) olfactory receptor and a rhodopsin-like receptor.

Olfactory receptor 2K2 is a protein that in humans is encoded by the OR2K2 gene.

Olfactory receptor 10H3 is a protein that in humans is encoded by the OR10H3 gene.

Olfactory receptor 7A5 is a protein that in humans is encoded by the OR7A5 gene.

Olfactory receptor 7C2 is a protein that in humans is encoded by the OR7C2 gene.

Mucolipin-2 also known as TRPML2 is a protein that in humans is encoded by the MCOLN2 gene. It is a member of the small family of the TRPML channels, a subgroup of the large protein family of TRP ion channels.

Polycystic kidney disease 2-like 2 protein (PKD2L2) also known as transient receptor potential polycystic 5 (TRPP5) is a protein that in humans is encoded by the PKD2L2 gene.

Guanine nucleotide-binding protein G(t) subunit alpha-3, also known as gustducin alpha-3 chain, is a protein subunit that in humans is encoded by the GNAT3 gene.

Enkurin is a protein that in humans is encoded by the ENKUR gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000055732 - Ensembl, May 2017
1 2 3 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.
1 2 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 US National Library of Medicine Medical Subject Headings (MeSH)

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000055732 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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] 1 2 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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