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Gene Review

ELOVL1  -  ELOVL fatty acid elongase 1

Homo sapiens

Synonyms: 3-keto acyl-CoA synthase ELOVL1, CGI-88, ELOVL FA elongase 1, Elongation of very long chain fatty acids protein 1, SSC1, ...
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Disease relevance of ELOVL1

  • Function of Hsp70s such as DnaK of the Escherichia coli cytoplasm and Ssc1 of the mitochondrial matrix of Saccharomyces cerevisiae requires the nucleotide release factors, GrpE and Mge1, respectively [1].

High impact information on ELOVL1

  • By analysis of a temperature-sensitive yeast mutant, a heat-shock protein in the matrix of mitochondria, mitochondrial hsp70 (Ssc1p), is found to be involved both in translocation of nuclear-encoded precursor proteins across the mitochondrial membranes and in (re)folding of imported proteins in the matrix [2].
  • The major Hsp70 of the mitochondrial matrix (Ssc1 in yeast) is critically important for the translocation of proteins from the cytosol, across the mitochondrial inner membrane, and into the matrix [3].
  • We found that although Ssc1 was competent to facilitate the refolding of denatured luciferase in vitro, both Ssc1--2 and Ssc1--201 showed significant defects, consistent with the data obtained with isolated mitochondria [4].
  • Interactions were observed between MC1R and markers located on SSC1 (p < 0.05) [5].
  • The peak positions on Sus scrofa chromosomes (SSC) were at 49.4 and 88.0 cM (SSC1), 56.0 cM (SSC13), 86.5 cM (SSC15) and 39.8 cM (SSC17), and, on SSC2, at 16.9 cM, in families derived from F1 males only (p < 0.05, except for SSC13, p < 0.01) [5].

Biological context of ELOVL1

  • At this improved level of resolution and coverage, porcine chromosomes (SSC) 2, 5, 6, 7, 12, and 14 remain "gene-rich" and homologous to human chromosomes (HSA) 17, 19, and 22, while SSC 1, 8, 11, and X have been confirmed to correspond to the "gene-deserts" on HSA 18, 4, 13, and X [6].

Anatomical context of ELOVL1

  • Systems for gene transfer and silencing in human skeletal stem cells (hSSCs, also stromal or mesenchymal stem cells) are important for addressing critical issues in basic hSSC and skeletal biology and for developing gene therapy strategies for treatment of skeletal diseases [7].

Analytical, diagnostic and therapeutic context of ELOVL1


  1. Interaction between the nucleotide exchange factor Mge1 and the mitochondrial Hsp70 Ssc1. Sakuragi, S., Liu, Q., Craig, E. J. Biol. Chem. (1999) [Pubmed]
  2. Requirement for hsp70 in the mitochondrial matrix for translocation and folding of precursor proteins. Kang, P.J., Ostermann, J., Shilling, J., Neupert, W., Craig, E.A., Pfanner, N. Nature (1990) [Pubmed]
  3. J protein cochaperone of the mitochondrial inner membrane required for protein import into the mitochondrial matrix. D'Silva, P.D., Schilke, B., Walter, W., Andrew, A., Craig, E.A. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  4. Mitochondrial Hsp70 Ssc1: role in protein folding. Liu, Q., Krzewska, J., Liberek, K., Craig, E.A. J. Biol. Chem. (2001) [Pubmed]
  5. Detection of novel quantitative trait loci for cutaneous melanoma by genome-wide scan in the MeLiM swine model. Zhi-Qiang, D., Silvia, V.N., H??l??ne, G., Florence, V., Fran??oise, C., Takeshi, S., Hiroshi, Y., Jean-Jacques, L., Stephan, B., Joseph, G., Vratislav, H., Denis, M., Roy Pascale, L., Claudine, G. Int. J. Cancer (2007) [Pubmed]
  6. Radiation hybrid map of the porcine genome comprising 2035 EST loci. Rink, A., Eyer, K., Roelofs, B., Priest, K.J., Sharkey-Brockmeier, K.J., Lekhong, S., Karajusuf, E.K., Bang, J., Yerle, M., Milan, D., Liu, W.S., Beattie, C.W. Mamm. Genome (2006) [Pubmed]
  7. Lentiviral transduction of human postnatal skeletal (stromal, mesenchymal) stem cells: in vivo transplantation and gene silencing. Piersanti, S., Sacchetti, B., Funari, A., Di Cesare, S., Bonci, D., Cherubini, G., Peschle, C., Riminucci, M., Bianco, P., Saggio, I. Calcif. Tissue Int. (2006) [Pubmed]
  8. Radiation hybrid mapping of the pig ALDOA, ALDOB and ALDOC genes to SSC3, SSC1 and SSC12. Lin, L., Liu, B., Yu, M., Yerle, M., Fan, B., Yang, J., Li, K. Anim. Genet. (2004) [Pubmed]
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