MCOLN3

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Mucolipin 3
Identifiers
Symbols MCOLN3 ; TRP-ML3; TRPML3
External IDs OMIM607400 MGI1890500 HomoloGene10118 IUPHAR: TRPML3 GeneCards: MCOLN3 Gene
Orthologs
Species Human Mouse
Entrez 55283 171166
Ensembl ENSG00000055732 ENSMUSG00000036853
UniProt Q8TDD5 Q8R4F0
RefSeq (mRNA) NM_001253693 NM_134160
RefSeq (protein) NP_001240622 NP_598921
Location (UCSC) Chr 1:
85.48 – 85.51 Mb
Chr 3:
146.12 – 146.14 Mb
PubMed search [1] [2]

Mucolipin-3 also known as TRPML3 (transient receptor potential cation channel, mucolipin subfamily, member 3) is a protein that in humans is encoded by the MCOLN3 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.[2]

Gene[edit]

In human, the MCOLN3 gene resides on the short arm of chromosome 1 at 1p22.3. The gene is split in 12 exons, which entail the open reading frame of 1659 nucleotides. The encoded protein, TRPML3, has 553 amino acid with a predicted molecular weight of ≈64 kDa. Computational analyses of the secondary structure predict the presence of six transmembrane domains, an ion transport motif (PF00520) and a transient receptor potential motif (PS50272). In the mouse, Mcoln3, is located on the distal end of chromosome 3 at cytogenetic band qH2. Human and mouse TRPML3 proteins share 91% sequence identity.[3] All vertebrate species, for which a genomic sequence is available, harbor the MCOLN3 gene. Homologs of MCOLN3 are also present in the genome of insects (Drosophila melanogaster), nematodes (Caenorhabditis elegans), sea urchin (Strongylocentrotus purpuratus) and lower organisms including Hydra and Dictyostelium.

Expression[edit]

Function[edit]

TRPML3 is an inwardly-rectifying cation channel.[1]

Genetics[edit]

Phenotypes[edit]

Mutations of the MCOLN3 gene in mice result in auditory hair cell death and deafness.[4]

See also[edit]

  • transient receptor potential cation channel, mucolipin subfamily, member 1 (MCOLN1)
  • transient receptor potential cation channel, mucolipin subfamily, member 2 (MCOLN2)

References[edit]

  1. ^ a b 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. ^ Noben-Trauth K (January 2011). "Chapter 13: TRPML3". In Islam MS. Transient Receptor Potential Channels. Advances in Experimental Medicine and Biology 704. Berlin: Springer. p. 700. ISBN 978-94-007-0264-6. 
  3. ^ Noben-Trauth, Konrad (2011). "The TRPML3 Channel: From Gene to Function". "Transient Receptor Potential Channels". Advances in experimental medicine and biology. Advances in Experimental Medicine and Biology 704: 229–237. doi:10.1007/978-94-007-0265-3_13. ISBN 978-94-007-0264-6. PMID 21290299.  edit
  4. ^ Nagata K, Zheng L, Madathany T, Castiglioni AJ, Bartles JR, García-Añoveros J (January 2008). "The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degeneration". Proc. Natl. Acad. Sci. U.S.A. 105 (1): 353–8. doi:10.1073/pnas.0707963105. PMC 2224216. PMID 18162548. 

Further reading[edit]

External links[edit]