Property Summary

NCBI Gene PubMed Count 66
Grant Count 879
R01 Count 570
Funding $133,046,684.66
PubMed Score 255.59
PubTator Score 184.64

Knowledge Summary

Patent (48,723)

Expression

Synonym

Accession Q9GZU1 D6W647 Q7Z4F7 Q9H292 Q9H4B3 Q9H4B5
Symbols ML4
MG-2
MLIV
MST080
TRPML1
MSTP080
TRP-ML1
TRPM-L1

Gene

PANTHER Protein Class (2)

MLP Assay (5)

AID Type Active / Inconclusive / Inactive Description
2770 screening 0 / 0 / 3 Late stage counterscreen results from the probe development effort to identify selective agonists of the Transient Receptor Potential Channels 3 (TRPML3): other ion channel Fura-2 profiling assay
624414 screening 485 / 473 / 404466 qHTS for Agonists of the Human Mucolipin Transient Receptor Potential 1 (TRPML1)
624415 screening 60 / 1763 / 388547 qHTS for Inhibitors of the Human Mucolipin Transient Receptor Potential 1 (TRPML1)
624423 summary 0 / 0 / 0 qHTS for Inhibitors of the Human Mucolipin Transient Receptor Potential 1 (TRPML1): Summary
624424 summary 0 / 0 / 0 qHTS for Agonists of the Human Mucolipin Transient Receptor Potential 1 (TRPML1): Summary

Gene RIF (46)

PMID Text
26195823 target of rapamycin (TOR), a nutrient-sensitive protein kinase that negatively regulates autophagy, directly targets and inactivates the TRPML1 channel and thereby functional autophagy, through phosphorylation
26009188 This review summarizes the current understanding of TRPML1 activation and regulation
25733853 lysosomal adaptation to environmental cues such as nutrient levels requires mTOR/TFEB-dependent, lysosome-to-nucleus regulation of lysosomal ML1 channels and Ca(2+) signaling.
24960374 TRPML1 has a novel role in protecting against lysosomotropic amine toxicity.
24192042 Retinal pigmented epithelial cells develop a punctate phenotype within 48 hours of small interfering (si)RNA-induced TRPML1-knockdown.
23685283 report of the first Saudi patient with Mucolipidosis type IV from a consanguineous family with two branches having a total of five patients carrying a novel transition mutation, c.1307A>G (p.Y436C) in exon 11
23418601 Data identified proteins as candidate TRPML1 interactors, and some false-positive interactors.
23368743 TRPML1 works in concert with ZnT4 to regulate zinc translocation between the cytoplasm and lysosomes.
23047439 Findings raise the possibility that the neurological dysfunction in patients with mucolipidosis type IV may arise from amino acid deprivation of TPRML in neurons.
22733759 PI(4,5)P(2) may serve as a negative cofactor for intracellular channels such as TRPML1
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AA Sequence

MTAPAGPRGSETERLLTPNPGYGTQAGPSPAPPTPPEEEDLRRRLKYFFMSPCDKFRAKGRKPCKLMLQV      1 - 70
VKILVVTVQLILFGLSNQLAVTFREENTIAFRHLFLLGYSDGADDTFAAYTREQLYQAIFHAVDQYLALP     71 - 140
DVSLGRYAYVRGGGDPWTNGSGLALCQRYYHRGHVDPANDTFDIDPMVVTDCIQVDPPERPPPPPSDDLT    141 - 210
LLESSSSYKNLTLKFHKLVNVTIHFRLKTINLQSLINNEIPDCYTFSVLITFDNKAHSGRIPISLETQAH    211 - 280
IQECKHPSVFQHGDNSFRLLFDVVVILTCSLSFLLCARSLLRGFLLQNEFVGFMWRQRGRVISLWERLEF    281 - 350
VNGWYILLVTSDVLTISGTIMKIGIEAKNLASYDVCSILLGTSTLLVWVGVIRYLTFFHNYNILIATLRV    351 - 420
ALPSVMRFCCCVAVIYLGYCFCGWIVLGPYHVKFRSLSMVSECLFSLINGDDMFVTFAAMQAQQGRSSLV    421 - 490
WLFSQLYLYSFISLFIYMVLSLFIALITGAYDTIKHPGGAGAEESELQAYIAQCQDSPTSGKFRRGSGSA    491 - 560
CSLLCCCGRDPSEEHSLLVN                                                      561 - 580
//

Text Mined References (67)

PMID Year Title
26195823 2015 The mucolipidosis IV Ca2+ channel TRPML1 (MCOLN1) is regulated by the TOR kinase.
26009188 2015 Regulation of TRPML1 function.
25733853 2015 Up-regulation of lysosomal TRPML1 channels is essential for lysosomal adaptation to nutrient starvation.
24960374 2014 A novel role of transient receptor potential mucolipin1 (TRPML1) in protecting against imidazole-induced cytotoxicity.
24192042 2014 Loss of TRPML1 promotes production of reactive oxygen species: is oxidative damage a factor in mucolipidosis type IV?
23685283 2013 A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV.
23418601 2013 Systematic screens for proteins that interact with the mucolipidosis type IV protein TRPML1.
23382219 2013 Structural basis for endosomal trafficking of diverse transmembrane cargos by PX-FERM proteins.
23368743 2013 Zinc-dependent lysosomal enlargement in TRPML1-deficient cells involves MTF-1 transcription factor and ZnT4 (Slc30a4) transporter.
23047439 2013 Feast or famine: role of TRPML in preventing cellular amino acid starvation.
More...