Mcoln1 mucolipin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mcoln1provided by MGI
Official Full Name: mucolipin 1provided by MGI
Primary source: MGI:MGI:1890498
See related: Ensembl:ENSMUSG00000004567 AllianceGenome:MGI:1890498
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: TRPML1; mucolipidin; 2210015I05Rik
Summary: Enables intracellular phosphatidylinositol-3,5-bisphosphate-sensitive cation channel activity. Involved in several processes, including cellular response to calcium ion; cellular response to pH; and protein homotetramerization. Acts upstream of or within autophagosome maturation. Is integral component of membrane. Is active in intracellular vesicle. Is expressed in several structures, including cochlea; genitourinary system; liver; lung; and spleen. Used to study mucolipidosis type IV. Human ortholog(s) of this gene implicated in glycoproteinosis and mucolipidosis type IV. Orthologous to human MCOLN1 (mucolipin TRP cation channel 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in adrenal adult (RPKM 109.5), ovary adult (RPKM 65.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 A1.1; 8 1.92 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (3550458..3565232)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (3500519..3515232)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Increased expression or activation of TRPML1 reduces hepatic storage of toxic Z alpha-1 antitrypsin.
Title: Increased expression or activation of TRPML1 reduces hepatic storage of toxic Z alpha-1 antitrypsin.
TRPML1-Induced Lysosomal Ca[2+] Signals Activate AQP2 Translocation and Water Flux in Renal Collecting Duct Cells.
Title: TRPML1-Induced Lysosomal Ca(2+) Signals Activate AQP2 Translocation and Water Flux in Renal Collecting Duct Cells.
Impaired autophagic flux and dedifferentiation in podocytes lacking Asah1 gene: Role of lysosomal TRPML1 channel.
Title: Impaired autophagic flux and dedifferentiation in podocytes lacking Asah1 gene: Role of lysosomal TRPML1 channel.
Targeting MCOLN1/TRPML1 channels to protect against ischemia-reperfusion injury by restoring the inhibited autophagic flux in cardiomyocytes.
Title: Targeting MCOLN1/TRPML1 channels to protect against ischemia-reperfusion injury by restoring the inhibited autophagic flux in cardiomyocytes.
LAMTOR1 inhibition of TRPML1-dependent lysosomal calcium release regulates dendritic lysosome trafficking and hippocampal neuronal function.
Title: LAMTOR1 inhibition of TRPML1-dependent lysosomal calcium release regulates dendritic lysosome trafficking and hippocampal neuronal function.
MCOLN1 gene therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV.
Title: MCOLN1 gene therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV.
TRPML1 channels initiate Ca(2+) sparks in vascular smooth muscle cells.
Title: TRPML1 channels initiate Ca(2+) sparks in vascular smooth muscle cells.
Regulation of TRPML1 channel activity and inflammatory exosome release by endogenously produced reactive oxygen species in mouse podocytes.
Title: Regulation of TRPML1 channel activity and inflammatory exosome release by endogenously produced reactive oxygen species in mouse podocytes.
Abnormal podocyte TRPML1 channel activity and exosome release in mice with podocyte-specific Asah1 gene deletion.
Title: Abnormal podocyte TRPML1 channel activity and exosome release in mice with podocyte-specific Asah1 gene deletion.
A lysosomal K(+) channel regulates large particle phagocytosis by facilitating lysosome Ca(2+) release.
Title: A lysosomal K(+) channel regulates large particle phagocytosis by facilitating lysosome Ca(2+) release.

Submit: New GeneRIF Correction See all GeneRIFs (35)

Variation

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Alleles

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

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

General gene information

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Markers

Mcoln1 (e-PCR), detects polymorphism
- UniSTS:531215

PMC88885P1 (e-PCR)
- UniSTS:273608

PMC88885P2 (e-PCR)
- UniSTS:273609

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 NAADP-sensitive calcium-release channel activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables intracellularly phosphatidylinositol-3,5-bisphosphate-gated monatomic cation channel activity	IDA Inferred from Direct Assay more info	PubMed
enables ligand-gated calcium channel activity	ISO Inferred from Sequence Orthology more info
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables monoatomic cation channel activity	ISO Inferred from Sequence Orthology more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within adaptive immune response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within autophagosome maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion export	ISO Inferred from Sequence Orthology more info
involved_in calcium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within calcium ion transport	IEA Inferred from Electronic Annotation more info
involved_in cellular response to calcium ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to pH	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endosomal transport	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within immune system process	IEA Inferred from Electronic Annotation more info
involved_in localization	ISO Inferred from Sequence Orthology more info
involved_in monoatomic cation transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in phagosome maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in phagosome maturation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of lysosome organization	ISO Inferred from Sequence Orthology more info
involved_in protein homotetramerization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homotetramerization	ISO Inferred from Sequence Orthology more info
involved_in release of sequestered calcium ion into cytosol	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
is_active_in intracellular vesicle	EXP Inferred from Experiment more info	PubMed
located_in late endosome	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of receptor complex	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: mucolipin-1

Names: transient receptor potential-mucolipin 1

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.

mRNA and Protein(s)

NM_053177.1 → NP_444407.1 mucolipin-1

See identical proteins and their annotated locations for NP_444407.1

Status: VALIDATED

Source sequence(s)

BC005651

Consensus CDS

CCDS22063.1

UniProtKB/Swiss-Prot

Q99J21

Related

ENSMUSP00000004683.7, ENSMUST00000004683.13

Conserved Domains (2) summary

pfam08016
Location:388 → 524

PKD_channel; Polycystin cation channel

cd21070
Location:112 → 292

ELD_TRPML1; extracytosolic/lumenal domain (ELD) found in transient receptor potential channel mucolipin 1 (TRPML1)