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MCOLN1

MCOLN1
Identifiers
AliasesMCOLN1, MG-2, ML4, MLIV, MST080, MSTP080, TRP-ML1, TRPM-L1, TRPML1, mucolipin 1, ML1
External IDsOMIM: 605248 MGI: 1890498 HomoloGene: 10744 GeneCards: MCOLN1
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for MCOLN1
Genomic location for MCOLN1
Band19p13.2Start7,522,624 bp[1]
End7,534,009 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_020533

NM_053177

RefSeq (protein)

NP_065394

NP_444407

Location (UCSC)Chr 19: 7.52 – 7.53 MbChr 8: 3.5 – 3.52 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000090674 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000004567 - Ensembl, May 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. ^ 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.
  6. ^ 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.
  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. doi:10.1038/nature07311. PMC 4301259. PMID 18794901.

External links