MCOLN3 (mucolipin TRP cation channel 3)

2016-10-01  

Identity

HGNC
LOCATION
1p22.3
LOCUSID
ALIAS
TRP-ML3,TRPML3

Other Information

Locus ID:

NCBI: 55283
MIM: 607400
HGNC: 13358
Ensembl: ENSG00000055732

Variants:

dbSNP: 55283
ClinVar: 55283
TCGA: ENSG00000055732
COSMIC: MCOLN3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000055732ENST00000341115Q8TDD5
ENSG00000055732ENST00000370587B1ANB7
ENSG00000055732ENST00000370589Q8TDD5
ENSG00000055732ENST00000490600S4R386

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351
TRP channelsREACTOMER-HSA-3295583

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
302152882019Palmitoylation controls trafficking of the intracellular Ca(2+) channel MCOLN3/TRPML3 to regulate autophagy.24
302152882019Palmitoylation controls trafficking of the intracellular Ca(2+) channel MCOLN3/TRPML3 to regulate autophagy.24
295776312018The regulatory mechanism of mammalian TRPMLs revealed by cryo-EM.5
295776312018The regulatory mechanism of mammalian TRPMLs revealed by cryo-EM.5
242698182014The Ca2+ channel TRPML3 specifically interacts with the mammalian ATG8 homologue GATE16 to regulate autophagy.18
242698182014The Ca2+ channel TRPML3 specifically interacts with the mammalian ATG8 homologue GATE16 to regulate autophagy.18
234691512013A novel ion channel formed by interaction of TRPML3 with TRPV5.9
234691512013A novel ion channel formed by interaction of TRPML3 with TRPV5.9
227538902012Constitutive activity of TRPML2 and TRPML3 channels versus activation by low extracellular sodium and small molecules.17
227538902012Constitutive activity of TRPML2 and TRPML3 channels versus activation by low extracellular sodium and small molecules.17
198858402010Functional multimerization of mucolipin channel proteins.28
203785472010Properties of the TRPML3 channel pore and its stable expansion by the Varitint-Waddler-causing mutation.13
207363102010Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy.32
198858402010Functional multimerization of mucolipin channel proteins.28
203785472010Properties of the TRPML3 channel pore and its stable expansion by the Varitint-Waddler-causing mutation.13

Citation

Dessen P

MCOLN3 (mucolipin TRP cation channel 3)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56004/mcoln3-(mucolipin-trp-cation-channel-3)