TRPML1 | Transient Receptor Potential Cation Channel Subfamily ML Member 1

Family:
Transient  receptor potential channels

Subgroups:
TRPC (TRPC1–TRPC7), TRPV (TRPV1-TRPV6), TRPA1, TRPM (TRPM1–TRPM8), TRPP (TRPP1–TRPP3, PKD1, PKDREJ, PKDL1–PKDL3), TRPML (TRPML1–TRPML3), TRPN

Topology:
Most TRP channels are composed of 6 transmembrane domains (helices) with intracellular N- and C-termini, non-selectively permeable to various cations

TRPML1: Background information

Gene:
SCN10A

Human Protein:
UniProt Q9Y5Y9

Tissue:
Brain (small diameter DRG neurons)

Function/ Application:
Excitability of neurons, nociceptive transmission

Pathology:
Neuropathic pain, Multiple Sclerosis

Accessory subunits:
b1, b2, b3

Interaction:
p11, PDZD2 and syntrophin-associated serine/threonine kinase (SASTK), Contactin, CAP-1A

Modulator:
Tetrodotoxin, lidocaine, benzocaine, A-887826, A-803467

Assays:
Patch Clamp: whole cell, room temperature, State- and use-dependence

Particularities:

Cell systems:
hNaV1.8 stably expressing CHO cell line (Charles River); rNaV1.8 stably expressed in ND7/23 cell line (EMD Millipore)

Recommended Reviews:
International Union of Pharmacology. XLVII. Nomenclature and Structure-Function Relationships of Voltage-Gated Sodium Channels. Pharmacol Rev 57: 397–409, Catterall, et al. 2005 

Posters

2015 - The backstage pass to study your favorite TRP channel

icon pap   Port-a-Patch and   icon pl   Patchliner and SyncroPatch 384PE and   icon sp96   SyncroPatch 384PE poster, TRP Meeting 2015   logo pdf   (2.2 MB)

Publications

2014 - A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV

icon pap  Port-a-Patch publication in Nature Communications (2014)

Authors:
Chen C.C., Keller M., Hess M., Schiffmann R., Urban N., Wolfgardt A., Schaefer M., Bracher F., Biel M., Wahl-Schott C., Grimm C.

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