MCOLN1 Identifiers Aliases MCOLN1 , MG-2, ML4, MLIV, MST080, MSTP080, TRP-ML1, TRPM-L1, TRPML1, mucolipin 1, ML1, mucolipin TRP cation channel 1External IDs OMIM : 605248 MGI : 1890498 HomoloGene : 10744 GeneCards : MCOLN1 Gene location (Human ) Chr. Chromosome 19 (human) [1] Band 19p13.2 Start 7,522,624 bp [1] End 7,534,009 bp [1]
Gene location (Mouse ) Chr. Chromosome 8 (mouse)[2] Band 8 A1.1|8 1.92 cM Start 3,550,457 bp [2] End 3,565,232 bp [2]
Gene ontology Molecular function Cellular component Biological process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez Ensembl UniProt RefSeq (mRNA) RefSeq (protein) Location (UCSC) Chr 19: 7.52 – 7.53 Mb Chr 8: 3.55 – 3.57 Mb PubMed search[3] [4] Wikidata
Mucolipin-1 also known as TRPML1 (transient receptor potential cation channel, mucolipin subfamily, member 1) is a protein that in humans is encoded by the MCOLN1 gene .[5] It is a member of the small family of the TRPML channels, a subgroup of the large protein family of TRP ion channels.
TRPML1 is a 65 kDa protein associated with mucolipidosis type IV . Its predicted structure includes six transmembrane domains, a transient receptor potential (TRP) cation-channel domain, and an internal channel pore.[6] TRPML1 is believed to channel iron ions across the endosome /lysosome membrane into the cell and so its malfunction causes cellular iron deficiency.[7] It is important in lysosome function and plays a part in processes such as vesicular trafficking , exocytosis and autophagy .[8] [9]
Ligands [ ]
Agonists
See also [ ]
transient receptor potential cation channel, mucolipin subfamily, member 2 (MCOLN2 )
transient receptor potential cation channel, mucolipin subfamily, member 3 (MCOLN3 )
mucolipidosis type IV
TRPML
References [ ]
^ a b c GRCh38: Ensembl release 89: ENSG00000090674 - Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000004567 - Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ Clapham DE, Julius D, Montell C, Schultz G (December 2005). "International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels". Pharmacol. Rev . 57 (4): 427–50. doi :10.1124/pr.57.4.6 . PMID 16382100 . S2CID 17936350 .
^ Venugopal B, Browning MF, Curcio-Morelli C, Varro A, Michaud N, Nanthakumar N, Walkley SU, Pickel J, Slaugenhaupt SA (November 2007). "Neurologic, gastric, and opthalmologic [sic ] pathologies in a murine model of mucolipidosis type IV" . Am. J. Hum. Genet . 81 (5): 1070–83. doi :10.1086/521954 . PMC 2265643 . PMID 17924347 .
^ Dong X, Cheng X, Mills E, Delling M, Wang F, Kurz T, Xu H (2008). "The Type IV Mucolipidosis-Associated Protein TRPML1 is an Endo-lysosomal Iron Release Channel" . Nature . 455 (7215): 992–6. doi :10.1038/nature07311 . PMC 4301259 . PMID 18794901 .
^ Wang W, Zhang X, Gao Q, Xu H (2014). "TRPML1: an ion channel in the lysosome". Handbook of Experimental Pharmacology . 222 : 631–45. doi :10.1007/978-3-642-54215-2_24 . PMID 24756723 .
^ Di Paola S, Scotto-Rosato A, Medina DL (January 2018). "TRPML1: The Ca(2+)retaker of the lysosome". Cell Calcium . 69 : 112–121. doi :10.1016/j.ceca.2017.06.006 . PMID 28689729 .
^ Schmiege P, Fine M, Blobel G, Li X (October 2017). "Human TRPML1 channel structures in open and closed conformations" . Nature . 550 (7676): 366–370. doi :10.1038/nature24036 . PMC 5920536 . PMID 29019983 .
External links [ ]
Ligand-gated Voltage-gated
α2 δ-subunits
β-subunits
γ-subunits
Na+ : Sodium channel
Constitutively active
Epithelial sodium channel
Proton -gated
Amiloride-sensitive cation channel
Voltage-gated
Nav α
1.1
1.2
1.3
1.4
1.5
1.6
1.7
1.8
1.9
7A
Nav β
K+ : Potassium channel
Calcium-activated Inward-rectifier Tandem pore domain Voltage-gated
Miscellaneous
Cl− : Chloride channel
Calcium-activated chloride channels
Anoctamin
Bestrophin
Chloride Channel Accessory
CFTR
CLCN
CLIC
CLNS
H+ : Proton channel M+ : CNG cation channel M+ : TRP cation channel H2 O (+ solutes ): Porin Cytoplasm : Gap junction
see also disorders
TRPA
Activators
4-Hydroxynonenal
4-Oxo-2-nonenal
4,5-EET
12S-HpETE
15-Deoxy-Δ12,14 -prostaglandin J2
α-Sanshool (ginger , Sichuan and melegueta peppers )
Acrolein
Allicin (garlic )
Allyl isothiocyanate (mustard , radish , horseradish , wasabi )
AM404
ASP-7663
Bradykinin
Cannabichromene (cannabis )
Cannabidiol (cannabis )
Cannabigerol (cannabis )
Cinnamaldehyde (cinnamon )
CR gas (dibenzoxazepine; DBO)
CS gas (2-chlorobenzal malononitrile)
Cuminaldehyde (cumin )
Curcumin (turmeric )
(celery )
Diallyl disulfide
Dicentrine (Lindera spp.)
Formalin
Gingerols (ginger )
Hepoxilin A3
Hepoxilin B3
Hydrogen peroxide
Icilin
Isothiocyanate
JT-010
(celery , Angelica acutiloba )
Linalool (Sichuan pepper , thyme )
Methylglyoxal
Methyl salicylate (wintergreen )
N-Methylmaleimide
Nicotine (tobacco )
Oleocanthal (olive oil )
Paclitaxel (Pacific yew )
Paracetamol (acetaminophen)
PF-4840154
Phenacyl chloride
Polygodial (Dorrigo pepper )
Shogaols (ginger , Sichuan and melegueta peppers )
Tear gases
Tetrahydrocannabinol (cannabis )
Tetrahydrocannabiorcol
Thiopropanal S-oxide (onion )
Umbellulone (Umbellularia californica )
WIN 55,212-2
Blockers
TRPC
TRPM
Activators
ADP-ribose
Calcium (intracellular)
CIM-0216
Cold
Cooling Agent 10
Eucalyptol (eucalyptus )
Geraniol
Hydroxycitronellal
Icilin
Linalool
Menthol (mint )
Pregnenolone sulfate
(Ruta graveolens )
Steviol glycosides (e.g., stevioside ) (Stevia rebaudiana )
Sweet tastants (e.g., glucose , fructose , sucrose ; indirectly)
WS-12
Blockers
TRPML
TRPP
Activators
Triptolide (Tripterygium wilfordii )
Blockers
TRPV
Activators
2-APB
5',6'-EET
9-HODE
9-oxoODE
12S-HETE
12S-HpETE
13-HODE
13-oxoODE
20-HETE
α-Sanshool (ginger , Sichuan and melegueta peppers )
Allicin (garlic )
AM404
Anandamide
(Andrographis paniculata )
Camphor (camphor laurel , rosemary , camphorweed , African blue basil , camphor basil )
Cannabidiol (cannabis )
Cannabidivarin (cannabis )
Capsaicin (chili pepper )
Carvacrol (oregano , thyme , pepperwort , wild bergamot , others)
DHEA
Diacyl glycerol
Dihydrocapsaicin (chili pepper )
Estradiol
Eugenol (basil , clove )
Evodiamine (Euodia ruticarpa )
Gingerols (ginger )
GSK1016790A
Heat
Hepoxilin A3
Hepoxilin B3
Homocapsaicin (chili pepper )
Homodihydrocapsaicin (chili pepper )
Incensole (incense )
Lysophosphatidic acid
Low pH (acidic conditions)
Menthol (mint )
N-Arachidonoyl dopamine
N-Oleoylethanolamide
Nonivamide (PAVA) (PAVA spray )
Nordihydrocapsaicin (chili pepper )
Paclitaxel (Pacific yew )
Paracetamol (acetaminophen)
Phenylacetylrinvanil
Phorbol esters (e.g., )
Piperine (black pepper , long pepper )
Polygodial (Dorrigo pepper )
Probenecid
Protons
RhTx
(Ruta graveolens )
Resiniferatoxin (RTX) (Euphorbia resinifera /pooissonii )
Shogaols (ginger , Sichuan and melegueta peppers )
Tetrahydrocannabivarin (cannabis )
Thymol (thyme , oregano )
Tinyatoxin (Euphorbia resinifera /pooissonii )
Tramadol
Vanillin (vanilla )
Zucapsaicin
Blockers
See also: Receptor/signaling modulators • Ion channel modulators