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Open Access Articles- Top Results for MCOLN1

MCOLN1

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Identifiers
SymbolsMCOLN1 ; MG-2; ML4; MLIV; MST080; TRP-ML1; TRPM-L1; TRPML1
External IDsOMIM605248 MGI1890498 HomoloGene10744 IUPHAR: 501 GeneCards: MCOLN1 Gene
Orthologs
SpeciesHumanMouse
Entrez5719294178
EnsemblENSG00000090674ENSMUSG00000004567
UniProtQ9GZU1Q99J21
RefSeq (mRNA)NM_020533NM_053177
RefSeq (protein)NP_065394NP_444407
Location (UCSC)Chr 19:
7.59 – 7.6 Mb
Chr 8:
3.5 – 3.52 Mb
PubMed search[1][2]

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.[1] 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.[2] TRPML1 is believed to channel iron ions across the endosome/lysosome membrane into the cell and so its malfunction causes cellular iron deficiency.[3]

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

  1. ^ 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. PMID 16382100. doi:10.1124/pr.57.4.6. 
  2. ^ 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 pathologies in a murine model of mucolipidosis type IV". Am. J. Hum. Genet. 81 (5): 1070–83. PMC 2265643. PMID 17924347. doi:10.1086/521954. 
  3. ^ Dong, X, Cheng, X., Mills, E., Delling, M., Wang, F., Kurz, T. and Xu, H. (2008). "The Type IV Mucolipidosis-Associated Protein TRPML1 is an Endo-lysosomal Iron Release Channel". Nature 455 (7215): 992–6. PMID 18794901. doi:10.1038/nature07311. 

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