LETM1

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

Leucine zipper-EF-hand containing transmembrane protein 1 is a protein that in humans is encoded by the LETM1 gene.{{cite web | title = Entrez Gene: leucine zipper-EF-hand containing transmembrane protein 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3954}}

Structure

The LETM1 protein has a transmembrane domain and a casein kinase 2 and protein kinase C phosphorylation site.{{cite journal | vauthors = Endele S, Fuhry M, Pak SJ, Zabel BU, Winterpacht A | title = LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients | journal = Genomics | volume = 60 | issue = 2 | pages = 218–25 | date = Sep 1999 | pmid = 10486213 | doi = 10.1006/geno.1999.5881 }} The LETM1 gene is expressed in the mitochondria of many eukaryotes indicating that this is a conserved mitochondrial protein.{{cite journal | vauthors = Schlickum S, Moghekar A, Simpson JC, Steglich C, O'Brien RJ, Winterpacht A, Endele SU | title = LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein | journal = Genomics | volume = 83 | issue = 2 | pages = 254–61 | date = Feb 2004 | pmid = 14706454 | doi = 10.1016/j.ygeno.2003.08.013 }}

Function

LETM1 is a eukaryotic protein that is expressed in the inner membrane of mitochondria. Experiments performed with human cells have been interpreted to indicate that it functions as a component of a Ca2+/H+ antiporter.{{cite journal | vauthors = Waldeck-Weiermair M, Jean-Quartier C, Rost R, Khan MJ, Vishnu N, Bondarenko AI, Imamura H, Malli R, Graier WF | title = Leucine zipper EF hand-containing transmembrane protein 1 (Letm1) and uncoupling proteins 2 and 3 (UCP2/3) contribute to two distinct mitochondrial Ca2+ uptake pathways | journal = The Journal of Biological Chemistry | volume = 286 | issue = 32 | pages = 28444–55 | date = Aug 2011 | pmid = 21613221 | pmc = 3151087 | doi = 10.1074/jbc.M111.244517 | doi-access = free }} Experimental results with yeast cells have been interpreted as suggesting that LETM1 functions as a component of a K+/H+ antiporter.{{cite journal | vauthors = Zotova L, Aleschko M, Sponder G, Baumgartner R, Reipert S, Prinz M, Schweyen RJ, Nowikovsky K | title = Novel components of an active mitochondrial K(+)/H(+) exchange | journal = The Journal of Biological Chemistry | volume = 285 | issue = 19 | pages = 14399–414 | date = May 2010 | pmid = 20197279 | pmc = 2863244 | doi = 10.1074/jbc.M109.059956 | doi-access = free }} The Drosophila melanogaster LETM1 protein has been shown to functionally substitute for the K+/H+ antiporter function in yeast cells.{{cite journal | vauthors = McQuibban AG, Joza N, Megighian A, Scorzeto M, Zanini D, Reipert S, Richter C, Schweyen RJ, Nowikovsky K | title = A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome | journal = Human Molecular Genetics | volume = 19 | issue = 6 | pages = 987–1000 | date = Mar 2010 | pmid = 20026556 | doi = 10.1093/hmg/ddp563 }}

Clinical significance

Deletion of LETM1 is thought to be involved in the development of Wolf–Hirschhorn syndrome in humans.

See also

References

{{reflist|33em}}

Further reading

{{refbegin|33em}}

  • {{cite journal | vauthors = Piao L, Li Y, Kim SJ, Byun HS, Huang SM, Hwang SK, Yang KJ, Park KA, Won M, Hong J, Hur GM, Seok JH, Shong M, Cho MH, Brazil DP, Hemmings BA, Park J | title = Association of LETM1 and MRPL36 contributes to the regulation of mitochondrial ATP production and necrotic cell death | journal = Cancer Research | volume = 69 | issue = 8 | pages = 3397–404 | date = Apr 2009 | pmid = 19318571 | doi = 10.1158/0008-5472.CAN-08-3235 | doi-access = free }}
  • {{cite journal | vauthors = Endele S, Fuhry M, Pak SJ, Zabel BU, Winterpacht A | title = LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients | journal = Genomics | volume = 60 | issue = 2 | pages = 218–25 | date = Sep 1999 | pmid = 10486213 | doi = 10.1006/geno.1999.5881 }}
  • {{cite journal | vauthors = Nowikovsky K, Froschauer EM, Zsurka G, Samaj J, Reipert S, Kolisek M, Wiesenberger G, Schweyen RJ | title = The LETM1/YOL027 gene family encodes a factor of the mitochondrial K+ homeostasis with a potential role in the Wolf-Hirschhorn syndrome | journal = The Journal of Biological Chemistry | volume = 279 | issue = 29 | pages = 30307–15 | date = Jul 2004 | pmid = 15138253 | doi = 10.1074/jbc.M403607200 | doi-access = free }}
  • {{cite journal | vauthors = Tamai S, Iida H, Yokota S, Sayano T, Kiguchiya S, Ishihara N, Hayashi J, Mihara K, Oka T | title = Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L | journal = Journal of Cell Science | volume = 121 | issue = Pt 15 | pages = 2588–600 | date = Aug 2008 | pmid = 18628306 | doi = 10.1242/jcs.026625 | doi-access = free }}
  • {{cite journal | vauthors = Piao L, Li Y, Kim SJ, Sohn KC, Yang KJ, Park KA, Byun HS, Won M, Hong J, Hur GM, Seok JH, Shong M, Sack R, Brazil DP, Hemmings BA, Park J | title = Regulation of OPA1-mediated mitochondrial fusion by leucine zipper/EF-hand-containing transmembrane protein-1 plays a role in apoptosis | journal = Cellular Signalling | volume = 21 | issue = 5 | pages = 767–77 | date = May 2009 | pmid = 19168126 | doi = 10.1016/j.cellsig.2009.01.020 }}
  • {{cite journal | vauthors = Jiang D, Zhao L, Clapham DE | title = Genome-wide RNAi screen identifies Letm1 as a mitochondrial Ca2+/H+ antiporter | journal = Science | volume = 326 | issue = 5949 | pages = 144–7 | date = Oct 2009 | pmid = 19797662 | doi = 10.1126/science.1175145 | pmc = 4067766 | bibcode = 2009Sci...326..144J }}
  • {{cite journal | vauthors = Hwang SK, Piao L, Lim HT, Minai-Tehrani A, Yu KN, Ha YC, Chae CH, Lee KH, Beck GR, Park J, Cho MH | title = Suppression of lung tumorigenesis by leucine zipper/EF hand-containing transmembrane-1 | journal = PLOS ONE | volume = 5 | issue = 9 | year = 2010 | pages = e12535 | pmid = 20824095 | pmc = 2932724 | doi = 10.1371/journal.pone.0012535 | bibcode = 2010PLoSO...512535H | doi-access = free }}
  • {{cite journal | vauthors = Dimmer KS, Navoni F, Casarin A, Trevisson E, Endele S, Winterpacht A, Salviati L, Scorrano L | title = LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability | journal = Human Molecular Genetics | volume = 17 | issue = 2 | pages = 201–14 | date = Jan 2008 | pmid = 17925330 | doi = 10.1093/hmg/ddm297 | doi-access = free }}
  • {{cite journal | vauthors = Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J | title = Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides | journal = Nature Biotechnology | volume = 21 | issue = 5 | pages = 566–9 | date = May 2003 | pmid = 12665801 | doi = 10.1038/nbt810 | s2cid = 23783563 }}
  • {{cite journal | vauthors = Hasegawa A, van der Bliek AM | title = Inverse correlation between expression of the Wolfs Hirschhorn candidate gene Letm1 and mitochondrial volume in C. elegans and in mammalian cells | journal = Human Molecular Genetics | volume = 16 | issue = 17 | pages = 2061–71 | date = Sep 2007 | pmid = 17606466 | doi = 10.1093/hmg/ddm154 | doi-access = free }}
  • {{cite journal | vauthors = Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ | title = Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression | journal = PLOS ONE | volume = 5 | issue = 9 | pages = e12862 | year = 2010 | pmid = 20877624 | pmc = 2943476 | doi = 10.1371/journal.pone.0012862 | bibcode = 2010PLoSO...512862H | doi-access = free }}
  • {{cite journal | vauthors = Schlickum S, Moghekar A, Simpson JC, Steglich C, O'Brien RJ, Winterpacht A, Endele SU | title = LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein | journal = Genomics | volume = 83 | issue = 2 | pages = 254–61 | date = Feb 2004 | pmid = 14706454 | doi = 10.1016/j.ygeno.2003.08.013 }}
  • {{cite journal | vauthors = Barbe L, Lundberg E, Oksvold P, Stenius A, Lewin E, Björling E, Asplund A, Pontén F, Brismar H, Uhlén M, Andersson-Svahn H | title = Toward a confocal subcellular atlas of the human proteome | journal = Molecular & Cellular Proteomics | volume = 7 | issue = 3 | pages = 499–508 | date = Mar 2008 | pmid = 18029348 | doi = 10.1074/mcp.M700325-MCP200 | doi-access = free }}

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{{InterPro content|IPR011685}}

{{NLM content}}

{{Mitochondrial proteins}}

Category:Transport proteins

Category:Mitochondrial proteins

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