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)[1] Band 1p22.3 Start 85,018,082bp[1] End 85,048,500bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 H2|3 71.03 cM Start 145,823,205bp[2] End 145,847,561bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 55283 171166 Ensembl ENSG00000055732 ENSMUSG00000036853 UniProt Q8TDD5 Q8R4F0 RefSeq (mRNA) NM_001253693 NM_018298 NM_134160 RefSeq (protein) NP_001240622 NP_060768 NP_598921 Location (UCSC) Chr 1: 85.02 – 85.05 Mb Chr 3: 145.82 – 145.85 Mb PubMed search [3] [4]
Wikidata
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Mucolipin-3 also known asTRPML3 (transient receptor potential cation channel, mucolipin subfamily, member 3) is aprotein that in humans is encoded by theMCOLN3gene.^[5] It is a member of the small family of theTRPML channels, a subgroup of the large protein family ofTRP ion channels.^[6]

In human, theMCOLN3 gene resides on the short arm ofchromosome 1 at 1p22.3. The gene is split in 12exons, which entail theopen reading frame of 1659 nucleotides. The encoded protein, TRPML3, has 553 amino acid with a predicted molecular weight of ≈64kDa. Computational analyses of the secondary structure predict the presence of sixtransmembrane domains, an ion transport motif (PF00520) and atransient receptor potential motif (PS50272).In the mouse,Mcoln3, is located on the distal end ofchromosome 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 theMCOLN3 gene. Homologs ofMCOLN3 are also present in the genome of insects (Drosophila melanogaster), nematodes (Caenorhabditis elegans), sea urchin (Strongylocentrotus purpuratus) and lower organisms including Hydra and Dictyostelium.

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TRPML3 is an inwardly-rectifyingcationchannel.^[5]

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Mutations of the MCOLN3 gene in mice result in auditoryhair cell death anddeafness.^[8]

Agonists (channel activators)

• ML-SA1 (non selective vsTRPML1)
• SN-2 (highly selective for TRPML3)

• transient receptor potential cation channel, mucolipin subfamily, member 1 (MCOLN1)
• transient receptor potential cation channel, mucolipin subfamily, member 2 (MCOLN2)

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

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