ENO3

From Wikipedia, the free encyclopedia


Enolase 3 (beta, muscle)
Identifiers
Symbol(s) ENO3; MSE
External IDs OMIM: 131370 MGI95395 HomoloGene68215
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 2027 13808
Ensembl ENSG00000108515 ENSMUSG00000060600
Uniprot P13929 Q4FK59
Refseq NM_001976 (mRNA)
NP_001967 (protein)
NM_007933 (mRNA)
NP_031959 (protein)
Location Chr 17: 4.8 - 4.8 Mb Chr 11: 70.47 - 70.48 Mb
Pubmed search [1] [2]

Enolase 3 (beta, muscle), also known as ENO3, is a human gene.[1]

This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme, a homodimer, is found in skeletal muscle cells in the adult. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene can be associated with metabolic myopathies that may result from decreased stability of the enzyme. Two transcripts have been identified for this gene that differ only in their 5' UTR.[1]

[edit] References

[edit] Further reading

  • Peshavaria M, Day IN (1991). "Molecular structure of the human muscle-specific enolase gene (ENO3).". Biochem. J. 275 ( Pt 2): 427–33. PMID 1840492. 
  • Calì L, Feo S, Oliva D, Giallongo A (1990). "Nucleotide sequence of a cDNA encoding the human muscle-specific enolase (MSE).". Nucleic Acids Res. 18 (7): 1893. PMID 2336366. 
  • Peshavaria M, Hinks LJ, Day IN (1989). "Structure of human muscle (beta) enolase mRNA and protein deduced from a genomic clone.". Nucleic Acids Res. 17 (21): 8862. PMID 2587223. 
  • Giallongo A, Venturella S, Oliva D, et al. (1993). "Structural features of the human gene for muscle-specific enolase. Differential splicing in the 5'-untranslated sequence generates two forms of mRNA.". Eur. J. Biochem. 214 (2): 367–74. PMID 8513787. 
  • Comi GP, Fortunato F, Lucchiari S, et al. (2001). "Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.". Ann. Neurol. 50 (2): 202–7. PMID 11506403. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Li TB, Liu XH, Feng S, et al. (2005). "Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle.". Acta Biochim. Biophys. Sin. (Shanghai) 36 (6): 412–8. PMID 15188056. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.