Property Summary

NCBI Gene PubMed Count 21
PubMed Score 14.81
PubTator Score 19.81

Knowledge Summary

Patent (8,871)

Expression

  Differential Expression (20)

Disease log2 FC p
psoriasis -1.200 2.3e-16
cutaneous lupus erythematosus -1.600 2.8e-03
osteosarcoma 2.823 4.6e-03
cystic fibrosis 1.719 2.0e-03
medulloblastoma, large-cell 1.100 7.1e-05
Atopic dermatitis -1.100 1.0e-03
adrenocortical carcinoma -2.046 2.7e-02
non-small cell lung carcinoma -1.300 2.8e-19
intraductal papillary-mucinous adenoma (... -2.500 9.2e-06
intraductal papillary-mucinous carcinoma... -1.800 2.3e-02
lung cancer 3.100 2.4e-05
pancreatic cancer -1.400 1.2e-04
interstitial cystitis -1.700 9.6e-04
lung adenocarcinoma -1.300 1.3e-09
posterior fossa group B ependymoma 1.200 2.8e-04
sonic hedgehog group medulloblastoma 1.300 1.1e-02
ductal carcinoma in situ -1.200 1.8e-02
invasive ductal carcinoma -1.500 1.8e-02
ovarian cancer -4.800 4.1e-11
pituitary cancer -1.300 1.9e-02

Gene RIF (13)

PMID Text
24269818 these results suggest that TRPML3 plays a role in autophagosome maturation through the interaction with GATE16, by providing Ca(2+) in the fusion process.
23469151 TRPML3 and TRPV5 heteromers could have a biological function
22753890 Negatively charged amino acids in the extracellular loops of TRPML3 may interfere with the observed sodium inhibition.
20736310 TRPML 1, 2 and 3 assemblies regulated cell viability and starvation-induced autophagy.
20378547 analysis of the TRPML3 channel pore and its stable expansion by the Varitint-Waddler-causing mutation
19885840 Data show that TRPMLs form distinct functional channel complexes.
19522758 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.
19497048 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.
19299509 The deaf-waddler isoform of PMCA2, operating at 30% efficacy, showed a significantly decreased ability to rescue the Ca(2+) loading of cells expressing TRPML3(A419P).
18369318 First characterization of wild-type TRPML3 calcium-permeable channel properties and its regulation by extracytosolic (luminal)hydrogen ion (H+).
18162548 TRPML3(A419P) and (I362T+A419P) at physiological potentials may have a role in hair cell degeneration and deafness
17962195 The A419P mutation affects TRPLMe channel glycosylation and causes massive cell death
16606612 there is a hierarchy controlling the subcellular distributions of the TRPMLs such that TRPML1 and TRPML2 dictate the localization of TRPML3 and not vice versa

AA Sequence

MADPEVVVSSCSSHEEENRCNFNQQTSPSEELLLEDQMRRKLKFFFMNPCEKFWARGRKPWKLAIQILKI      1 - 70
AMVTIQLVLFGLSNQMVVAFKEENTIAFKHLFLKGYMDRMDDTYAVYTQSDVYDQLIFAVNQYLQLYNVS     71 - 140
VGNHAYENKGTKQSAMAICQHFYKRGNIYPGNDTFDIDPEIETECFFVEPDEPFHIGTPAENKLNLTLDF    141 - 210
HRLLTVELQFKLKAINLQTVRHQELPDCYDFTLTITFDNKAHSGRIKISLDNDISIRECKDWHVSGSIQK    211 - 280
NTHYMMIFDAFVILTCLVSLILCIRSVIRGLQLQQEFVNFFLLHYKKEVSVSDQMEFVNGWYIMIIISDI    281 - 350
LTIIGSILKMEIQAKSLTSYDVCSILLGTSTMLVWLGVIRYLGFFAKYNLLILTLQAALPNVIRFCCCAA    351 - 420
MIYLGYCFCGWIVLGPYHDKFRSLNMVSECLFSLINGDDMFATFAKMQQKSYLVWLFSRIYLYSFISLFI    421 - 490
YMILSLFIALITDTYETIKQYQQDGFPETELRTFISECKDLPNSGKYRLEDDPPVSLFCCCKK           491 - 553
//

Text Mined References (21)

PMID Year Title
24269818 2014 The Ca2+ channel TRPML3 specifically interacts with the mammalian ATG8 homologue GATE16 to regulate autophagy.
23469151 2013 A novel ion channel formed by interaction of TRPML3 with TRPV5.
22753890 2012 Constitutive activity of TRPML2 and TRPML3 channels versus activation by low extracellular sodium and small molecules.
20736310 2010 Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy.
20378547 2010 Properties of the TRPML3 channel pore and its stable expansion by the Varitint-Waddler-causing mutation.
19885840 2010 Functional multimerization of mucolipin channel proteins.
19522758 2009 The Ca(2+) channel TRPML3 regulates membrane trafficking and autophagy.
19497048 2009 The calcium channel mucolipin-3 is a novel regulator of trafficking along the endosomal pathway.
19299509 2009 Life and death of sensory hair cells expressing constitutively active TRPML3.
18369318 2008 A novel mode of TRPML3 regulation by extracytosolic pH absent in the varitint-waddler phenotype.
18162548 2008 The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degeneration.
17962195 2007 Gain-of-function mutation in TRPML3 causes the mouse Varitint-Waddler phenotype.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16606612 2006 Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1.
16382100 2005 International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12403827 2002 Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice.
11326278 2001 Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog.