Mukolipin-1 znan i kao TRPML1 (član 1 pčotporodice mukolipina, tranzijentnog potencijalnog receptorskog kationskog kanala) jest protein koji je kod ljudi kodiran genom MCOLN1 sa hromosoma 19.[5] Član je male porodice TRPML kanala, podgrupe velike porodice proteina TRP ionskih kanala.

MCOLN1
Identifikatori
AliasiMCOLN1
Vanjski ID-jeviOMIM: 605248 MGI: 1890498 HomoloGene: 10744 GeneCards: MCOLN1
Lokacija gena (čovjek)
Hromosom 19 (čovjek)
Hrom.Hromosom 19 (čovjek)[1]
Hromosom 19 (čovjek)
Genomska lokacija za MCOLN1
Genomska lokacija za MCOLN1
Bend19p13.2Početak7,522,624 bp[1]
Kraj7,534,009 bp[1]
Lokacija gena (miš)
Hromosom 8 (miš)
Hrom.Hromosom 8 (miš)[2]
Hromosom 8 (miš)
Genomska lokacija za MCOLN1
Genomska lokacija za MCOLN1
Bend8 A1.1|8 1.92 cMPočetak3,550,457 bp[2]
Kraj3,565,232 bp[2]
Ontologija gena
Molekularna funkcija cation channel activity
NAADP-sensitive calcium-release channel activity
GO:0097689 iron ion transmembrane transporter activity
calcium channel activity
GO:0001948, GO:0016582 vezivanje za proteine
lipid binding
intracellular phosphatidylinositol-3,5-bisphosphate-sensitive cation channel activity
ligand-gated calcium channel activity
Ćelijska komponenta lysosomal membrane
endosome membrane
integral component of membrane
integral component of plasma membrane
membrana
receptor complex
endozom
late endosome membrane
ćelijska membrana
citosol
phagocytic cup
Lizozom
late endosome
phagocytic vesicle membrane
GO:0016023 citoplazmatska vezikula
projekcija ćelije
cytoplasmic vesicle membrane
Biološki proces calcium ion transport
transferrin transport
release of sequestered calcium ion into cytosol
ion transport
cation transport
iron ion transmembrane transport
GO:0000046 autophagosome maturation
calcium ion transmembrane transport
GO:0015915 transport
adaptive immune response
immune system process
calcium-mediated signaling
protein homotetramerization
cellular response to calcium ion
cellular response to pH
cation transmembrane transport
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_020533

NM_053177

RefSeq (bjelančevina)

NP_065394

NP_444407

Lokacija (UCSC)Chr 19: 7.52 – 7.53 MbChr 8: 3.55 – 3.57 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Aminokiselinska sekvenca

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Dužina polipeptidnog lanca je 580 aminokiselina, a molekulska težina 65.022 Da.[5]

1020304050
MTAPAGPRGSETERLLTPNPGYGTQAGPSPAPPTPPEEEDLRRRLKYFFM
SPCDKFRAKGRKPCKLMLQVVKILVVTVQLILFGLSNQLAVTFREENTIA
FRHLFLLGYSDGADDTFAAYTREQLYQAIFHAVDQYLALPDVSLGRYAYV
RGGGDPWTNGSGLALCQRYYHRGHVDPANDTFDIDPMVVTDCIQVDPPER
PPPPPSDDLTLLESSSSYKNLTLKFHKLVNVTIHFRLKTINLQSLINNEI
PDCYTFSVLITFDNKAHSGRIPISLETQAHIQECKHPSVFQHGDNSFRLL
FDVVVILTCSLSFLLCARSLLRGFLLQNEFVGFMWRQRGRVISLWERLEF
VNGWYILLVTSDVLTISGTIMKIGIEAKNLASYDVCSILLGTSTLLVWVG
VIRYLTFFHNYNILIATLRVALPSVMRFCCCVAVIYLGYCFCGWIVLGPY
HVKFRSLSMVSECLFSLINGDDMFVTFAAMQAQQGRSSLVWLFSQLYLYS
FISLFIYMVLSLFIALITGAYDTIKHPGGAGAEESELQAYIAQCQDSPTS
GKFRRGSGSACSLLCCCGRDPSEEHSLLVN

Funkcija

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TRPML1 je protein od 65 kDa povezan sa mukolipidozom tipa IV. Njegova predviđena struktura uključuje šest transmembranskih domena, tranzijentni receptorski potencijal (TRP) domena kationskog kanala i pore unutrašnjeg kanala.[6] Vjeruje se da TRPML1 kanališe ione željeza preko endosomne/lizozomne membrane u ćeliju i tako njegov kvar uzrokuje ćelijski nedostatak željeza.[7] Važan je u funkciji lizosoma i igra ulogu u procesima kao što su promet vezikula, egzocitoza i autofagija.[8][9]

Agonisti

Također pogledajte

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  • Kationski kanal prolaznog receptorskog potencijala, potporodica mukolipina, član 2 (MCOLN2)
  • Kationski kanal prolaznog receptorskog potencijala, potporodica mukolipina, član 3 (MCOLN3)
  • Mukolipidoza tip IV
  • TRPML

Reference

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000090674 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000004567 - Ensembl, maj 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b Clapham DE, Julius D, Montell C, Schultz G (decembar 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.
  6. ^ Venugopal B, Browning MF, Curcio-Morelli C, Varro A, Michaud N, Nanthakumar N, Walkley SU, Pickel J, Slaugenhaupt SA (novembar 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.
  7. ^ 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. Bibcode:2008Natur.455..992D. doi:10.1038/nature07311. PMC 4301259. PMID 18794901.
  8. ^ 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. ISBN 978-3-642-54214-5. PMID 24756723.
  9. ^ Di Paola S, Scotto-Rosato A, Medina DL (januar 2018). "TRPML1: The Ca(2+)retaker of the lysosome". Cell Calcium. 69: 112–121. doi:10.1016/j.ceca.2017.06.006. PMID 28689729.
  10. ^ Schmiege P, Fine M, Blobel G, Li X (oktobar 2017). "Human TRPML1 channel structures in open and closed conformations". Nature. 550 (7676): 366–370. Bibcode:2017Natur.550..366S. doi:10.1038/nature24036. PMC 5920536. PMID 29019983.

Vanjski linkovi

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Šablon:Modulatori potencijalnog prolaznog receptorskog kanala