Biology:LETM1

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Leucine zipper-EF-hand containing transmembrane protein 1 is a protein that in humans is encoded by the LETM1 gene.[1]

Structure

The LETM1 protein has a transmembrane domain and a casein kinase 2 and protein kinase C phosphorylation site.[2] The LETM1 gene is expressed in the mitochondria of many eukaryotes indicating that this is a conserved mitochondrial protein.[3]

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.[4] Experimental results with yeast cells have been interpreted as suggesting that LETM1 functions as a component of a K+/H+ antiporter.[5] The Drosophila melanogaster LETM1 protein has been shown to functionally substitute for the K+/H+ antiporter function in yeast cells.[6]

Clinical significance

Deletion of LETM1 is thought to be involved in the development of Wolf–Hirschhorn syndrome in humans.[2]

See also

References

  1. "Entrez Gene: leucine zipper-EF-hand containing transmembrane protein 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3954. 
  2. 2.0 2.1 "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". Genomics 60 (2): 218–25. Sep 1999. doi:10.1006/geno.1999.5881. PMID 10486213. 
  3. "LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein". Genomics 83 (2): 254–61. Feb 2004. doi:10.1016/j.ygeno.2003.08.013. PMID 14706454. 
  4. "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". The Journal of Biological Chemistry 286 (32): 28444–55. Aug 2011. doi:10.1074/jbc.M111.244517. PMID 21613221. 
  5. "Novel components of an active mitochondrial K(+)/H(+) exchange". The Journal of Biological Chemistry 285 (19): 14399–414. May 2010. doi:10.1074/jbc.M109.059956. PMID 20197279. 
  6. "A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome". Human Molecular Genetics 19 (6): 987–1000. Mar 2010. doi:10.1093/hmg/ddp563. PMID 20026556. 

Further reading

This article incorporates text from the public domain Pfam and InterPro: IPR011685

This article incorporates text from the United States National Library of Medicine, which is in the public domain.