Trpml Transient receptor potential cation channel, mucolipin [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: Trpmlprovided by FlyBase
Official Full Name: Transient receptor potential cation channel, mucolipinprovided by FlyBase
Primary source: FLYBASE:FBgn0262516
Locus tag: Dmel_CG8743
See related: AllianceGenome:FB:FBgn0262516
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Drosophila melanogaster
Lineage: Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as: CG8743; CT25240; Dmel\CG8743; DmTRPML; l(3)76BDi; trpml; TRPML
Summary: Enables intracellularly ligand-gated monoatomic ion channel activity; monoatomic cation channel activity; and phosphatidylinositol-3,5-bisphosphate binding activity. Involved in several processes, including autophagosome maturation; positive regulation of TOR signaling; and positive regulation of synaptic assembly at neuromuscular junction. Located in endolysosome membrane; late endosome membrane; and plasma membrane. Is expressed in adult head. Used to study glycoproteinosis. Human ortholog(s) of this gene implicated in Lisch epithelial corneal dystrophy; glycoproteinosis; and mucolipidosis type IV. Orthologous to human MCOLN1 (mucolipin TRP cation channel 1); MCOLN2 (mucolipin TRP cation channel 2); and MCOLN3 (mucolipin TRP cation channel 3). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: 76C2-76C2; 3-46 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	3L	NT_037436.4 (19714418..19718328, complement)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	3L	NT_037436.3 (19707518..19711428, complement)

Chromosome 3L - NT_037436.4 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Drosophila TRPML forms PI(3,5)P2-activated cation channels in both endolysosomes and plasma membrane.
Title: Drosophila TRPML forms PI(3,5)P2-activated cation channels in both endolysosomes and plasma membrane.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by FlyBase

Function	Evidence Code	Pubs
enables intracellularly ligand-gated monoatomic ion channel activity	IDA Inferred from Direct Assay more info	PubMed
enables monoatomic cation channel activity	IDA Inferred from Direct Assay more info	PubMed
enables monoatomic cation channel activity	IEA Inferred from Electronic Annotation more info
enables monoatomic cation channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol-3,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in autophagosome maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in defense response to bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in monoatomic cation transport	IDA Inferred from Direct Assay more info	PubMed
involved_in monoatomic cation transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of synaptic assembly at neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of cation channel complex	ISS Inferred from Sequence or Structural Similarity more info
located_in endolysosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in late endosome	IDA Inferred from Direct Assay more info	PubMed
located_in late endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transient receptor potential cation channel, mucolipin

Names: CG8743-PA; TRP mucolipin; Trpml-PA; l(3)76BDi; transient receptor potential cation channel, mucolipin ortholog; transient receptor potential mucolipin

NCBI Reference Sequences (RefSeq)

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Genome Annotation

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference assembly

Genomic

NT_037436.4 Reference assembly

Range

19714418..19718328 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_140888.4 → NP_649145.1 transient receptor potential cation channel, mucolipin [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_649145.1

Status: REVIEWED

UniProtKB/TrEMBL

Q9VW35

Related

FBpp0074720

Conserved Domains (1) summary

pfam00520
Location:403 → 578

Ion_trans; Ion transport protein