MCOLN1

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Mucolipin 1
Identifiers
Symbols MCOLN1 ; MG-2; ML4; MLIV; MST080; TRP-ML1; TRPM-L1; TRPML1
External IDs OMIM605248 MGI1890498 HomoloGene10744 IUPHAR: TRPML1 GeneCards: MCOLN1 Gene
Orthologs
Species Human Mouse
Entrez 57192 94178
Ensembl ENSG00000090674 ENSMUSG00000004567
UniProt Q9GZU1 Q99J21
RefSeq (mRNA) NM_020533 NM_053177
RefSeq (protein) NP_065394 NP_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[edit]

  • 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[edit]

  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. doi:10.1124/pr.57.4.6. PMID 16382100. 
  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. doi:10.1086/521954. PMC 2265643. PMID 17924347. 
  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. doi:10.1038/nature07311. PMID 18794901. 

External links[edit]