MCOLN3 mucolipin TRP cation channel 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MCOLN3provided by HGNC
Official Full Name: mucolipin TRP cation channel 3provided by HGNC
Primary source: HGNC:HGNC:13358
See related: Ensembl:ENSG00000055732 MIM:607400; AllianceGenome:HGNC:13358
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TRPML3; TRP-ML3
Summary: This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Expression: Biased expression in adrenal (RPKM 27.0), skin (RPKM 3.3) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p22.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (85018082..85048500, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (84858716..84889133, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (85483765..85514183, complement)

Chromosome 1 - NC_000001.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

palmitoylation is a prerequisite for the function of MCOLN3/TRPML3 as a Ca(2+) channel in autophagosome formation.
Title: Palmitoylation controls trafficking of the intracellular Ca(2+) channel MCOLN3/TRPML3 to regulate autophagy.
The work elucidates the molecular architecture and provides insights into how multiple ligands regulate TRPML1 and TRPML3. (Review)
Title: The regulatory mechanism of mammalian TRPMLs revealed by cryo-EM.
these results suggest that TRPML3 plays a role in autophagosome maturation through the interaction with GATE16, by providing Ca(2+) in the fusion process.
Title: The Ca2+ channel TRPML3 specifically interacts with the mammalian ATG8 homologue GATE16 to regulate autophagy.
TRPML3 and TRPV5 heteromers could have a biological function
Title: A novel ion channel formed by interaction of TRPML3 with TRPV5.
Negatively charged amino acids in the extracellular loops of TRPML3 may interfere with the observed sodium inhibition.
Title: Constitutive activity of TRPML2 and TRPML3 channels versus activation by low extracellular sodium and small molecules.
TRPML 1, 2 and 3 assemblies regulated cell viability and starvation-induced autophagy.
Title: Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy.
analysis of the TRPML3 channel pore and its stable expansion by the Varitint-Waddler-causing mutation
Title: Properties of the TRPML3 channel pore and its stable expansion by the Varitint-Waddler-causing mutation.
Data show that TRPMLs form distinct functional channel complexes.
Title: Functional multimerization of mucolipin channel proteins.
Results show that mucolipin 3 is a novel calcium channel that plays a crucial role in the regulation of cargo trafficking along the endosomal pathway.
Title: The calcium channel mucolipin-3 is a novel regulator of trafficking along the endosomal pathway.
These findings reveal a prominent role for TRPML3 in regulating endocytosis, membrane trafficking and autophagy, perhaps by controlling the Ca(2+) in the vicinity of cellular organelles that is necessary to regulate these cellular events.
Title: The Ca(2+) channel TRPML3 regulates membrane trafficking and autophagy.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NAADP-sensitive calcium-release channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium channel activity	TAS Traceable Author Statement more info
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables monoatomic anion channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables potassium channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables sodium channel activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in calcium ion transmembrane transport	TAS Traceable Author Statement more info
involved_in calcium-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in inner ear auditory receptor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
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
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 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	TAS Traceable Author Statement more info

General protein information

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Preferred Names: mucolipin-3

Names: mucolipin 3; transient receptor potential channel mucolipin 3

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_001253693.2 → NP_001240622.1 mucolipin-3 isoform 2

See identical proteins and their annotated locations for NP_001240622.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.

Source sequence(s)

AK001868, BP358726, BQ006750, BU634119, BX483450, CB159774, W03483

Consensus CDS

CCDS58009.1

UniProtKB/TrEMBL

A8K841

Related

ENSP00000342698.3, ENST00000341115.8

Conserved Domains (1) summary

pfam08016
Location:319 → 452

PKD_channel; Polycystin cation channel
NM_018298.11 → NP_060768.8 mucolipin-3 isoform 1

See identical proteins and their annotated locations for NP_060768.8

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).

Source sequence(s)

AF475085, BP358726, BQ006750, BU634119, BX647497, CB159774, W03483

Consensus CDS

CCDS701.1

UniProtKB/Swiss-Prot

Q5T4H5, Q5T4H6, Q8TDD5, Q9NV09

UniProtKB/TrEMBL

A8K841

Related

ENSP00000359621.1, ENST00000370589.7

Conserved Domains (1) summary

pfam08016
Location:375 → 508

PKD_channel; Polycystin cation channel