ENO3
From Wikipedia, the free encyclopedia
| Enolase 3 (beta, muscle) | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | ENO3; GSD13; MSE | ||||||||||||
| External IDs | OMIM: 131370 MGI: 95395 HomoloGene: 68215 ChEMBL: 2268 GeneCards: ENO3 Gene | ||||||||||||
| EC number | 4.2.1.11 | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 2027 | 13808 | |||||||||||
| Ensembl | ENSG00000108515 | ENSMUSG00000060600 | |||||||||||
| UniProt | P13929 | P21550 | |||||||||||
| RefSeq (mRNA) | NM_001193503 | NM_001136062 | |||||||||||
| RefSeq (protein) | NP_001180432 | NP_001129534 | |||||||||||
| Location (UCSC) | Chr 17: 4.85 – 4.86 Mb | Chr 11: 70.66 – 70.66 Mb | |||||||||||
| PubMed search | |||||||||||||
Beta-enolase is an enzyme that in humans is encoded by the ENO3 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]
Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles. [§ 1]
Glycolysis and Gluconeogenesis edit
- ↑ The interactive pathway map can be edited at WikiPathways: "GlycolysisGluconeogenesis_WP534".
References
Further reading
- Peshavaria M, Day IN (1991). "Molecular structure of the human muscle-specific enolase gene (ENO3).". Biochem. J. 275 (2): 427–33. PMC 1150071. 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. doi:10.1093/nar/18.7.1893. PMC 330616. 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. doi:10.1093/nar/17.21.8862. PMC 335055. 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. doi:10.1111/j.1432-1033.1993.tb17932.x. 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. doi:10.1002/ana.1095. 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. PMC 139241. 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. doi:10.1093/abbs/36.6.412. 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. PMC 528928. 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. PMC 1356129. PMID 16344560.
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