Mcoln3 mucolipin 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mcoln3provided by MGI
Official Full Name: mucolipin 3provided by MGI
Primary source: MGI:MGI:1890500
See related: Ensembl:ENSMUSG00000036853 AllianceGenome:MGI:1890500
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Va; TRPML3; 6720490O21Rik
Summary: Enables monoatomic anion channel activity; potassium channel activity; and sodium channel activity. Acts upstream of or within inner ear auditory receptor cell differentiation; locomotory behavior; and sensory perception of sound. Located in cytoplasm and plasma membrane. Is expressed in cochlea; olfactory epithelium; and vibrissa. Orthologous to human MCOLN3 (mucolipin TRP cation channel 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in placenta adult (RPKM 3.2), kidney adult (RPKM 2.7) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 H2; 3 71.03 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (145799032..145847563)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (146093277..146141808)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Whole-body analysis of TRPML3 (MCOLN3) expression using a GFP-reporter mouse model reveals widespread expression in secretory cells and endocrine glands.
Title: Whole-body analysis of TRPML3 (MCOLN3) expression using a GFP-reporter mouse model reveals widespread expression in secretory cells and endocrine glands.
Lung emphysema and impaired macrophage elastase clearance in mucolipin 3 deficient mice.
Title: Lung emphysema and impaired macrophage elastase clearance in mucolipin 3 deficient mice.
Mice lacking both mucolipins 3 and 1, but not either one alone, experienced hearing loss as early as at 1 month of age.
Title: Codeficiency of Lysosomal Mucolipins 3 and 1 in Cochlear Hair Cells Diminishes Outer Hair Cell Longevity and Accelerates Age-Related Hearing Loss.
lack of both mucolipins 1 and 3 causes an accelerated mucolipidosis IV-type of vacuolation in enterocytes
Title: Mucolipin co-deficiency causes accelerated endolysosomal vacuolation of enterocytes and failure-to-thrive from birth to weaning.
Study shows that, when uropathogenic E. coli infect bladder epithelial cells, they are targeted by autophagy but avoid degradation because of their capacity to neutralize lysosomal pH. This change is detected by TRPML3, TRPML3 activation then spontaneously initiates lysosome exocytosis, resulting in expulsion of exosome-encased bacteria.
Title: A TRP Channel Senses Lysosome Neutralization by Pathogens to Trigger Their Expulsion.
Trpml3 inactivation does not lead to hearing and vestibular impairment in mice
Title: Genetic inactivation of Trpml3 does not lead to hearing and vestibular impairment in mice.
Results describe the expression and subcellular distribution of TRPML3 in the inner ear as well as in other sensory organs.
Title: Expression and vesicular localization of mouse Trpml3 in stria vascularis, hair cells, and vomeronasal and olfactory receptor neurons.
prominent role for MCOLN3 in regulating Ca(2+) homeostasis at the endosomal pathway
Title: Mucolipin-3 regulates luminal calcium, acidification, and membrane fusion in the endosomal pathway.
In animal disease model of neuropathic pain, the TRPML3 showed the most dramatic change.
Title: Differential regulation of TRP channels in a rat model of neuropathic pain.
The deaf-waddler isoform of PMCA2, operating at 30% efficacy, showed a significantly decreased ability to rescue the Ca(2+) loading of cells expressing TRPML3(A419P).
Title: Life and death of sensory hair cells expressing constitutively active TRPML3.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Spontaneous (2)
Targeted (5) 1 citation

General gene information

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Markers

Mcoln3 (e-PCR), detects polymorphism
- UniSTS:531217

PMC137533P1 (e-PCR)
- UniSTS:270833

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables NAADP-sensitive calcium-release channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables monoatomic anion channel activity	IDA Inferred from Direct Assay more info	PubMed
enables potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables sodium channel activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within inner ear auditory receptor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in monoatomic anion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info
involved_in sodium ion transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in autophagosome membrane	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
located_in late endosome membrane	IEA Inferred from Electronic Annotation more info
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in stereocilium membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: mucolipin-3

Names: transient receptor potential channel mucolipin 3; varitint-waddler

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.