• Gene id: 2027

Gene Summary

• Gene Symbol: ENO3   Gene   UCSC   Ensembl
• Aliases: GSD13, MSE
• Gene name: enolase 3
• Alternate names: beta-enolase, 2-phospho-D-glycerate hydrolyase, enolase 3 (beta, muscle), muscle enriched enolase, muscle-specific enolase, skeletal muscle enolase,
• Gene location: 17p13.2 (4949181: 4957130)     Exons: 14     NC_000017.11
• Gene summary(Entrez): This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase to beta enolase occurs in mu
• OMIM: 603571

Protein Summary

• Protein general information: P13929  
  • Name: Beta enolase (EC 4.2.1.11) (2 phospho D glycerate hydro lyase) (Enolase 3) (Muscle specific enolase) (MSE) (Skeletal muscle enolase)
  • Length: 434  
  • Mass: 46987
  • Tissue specificity: The alpha/alpha homodimer is expressed in embryo and in most adult tissues. The alpha/beta heterodimer and the beta/beta homodimer are found in striated muscle, and the alpha/gamma heterodimer and the gamma/gamma homodimer in neurons.
• Sequence:

  MAMQKIFAREILDSRGNPTVEVDLHTAKGRFRAAVPSGASTGIYEALELRDGDKGRYLGKGVLKAVENINNTLGP
  ALLQKKLSVVDQEKVDKFMIELDGTENKSKFGANAILGVSLAVCKAGAAEKGVPLYRHIADLAGNPDLILPVPAF
  NVINGGSHAGNKLAMQEFMILPVGASSFKEAMRIGAEVYHHLKGVIKAKYGKDATNVGDEGGFAPNILENNEALE
  LLKTAIQAAGYPDKVVIGMDVAASEFYRNGKYDLDFKSPDDPARHITGEKLGELYKSFIKNYPVVSIEDPFDQDD
  WATWTSFLSGVNIQIVGDDLTVTNPKRIAQAVEKKACNCLLLKVNQIGSVTESIQACKLAQSNGWGVMVSHRSGE
  TEDTFIADLVVGLCTGQIKTGAPCRSERLAKYNQLMRIEEALGDKAIFAGRKFRNPKAK

• Structural information:
  • Interpro: IPR000941  IPR036849  IPR029017  IPR020810  IPR020809   IPR020811  
  • Prosite: PS00164
  • CDD: cd03313
  • PDB: 2XSX
  • PDBsum: 2XSX
  • STRING: ENSP00000324105
• Other Databases: GeneCards:  ENO3  Malacards:  ENO3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000015	phosphopyruvate hydratase complex	IBA	cellular component
GO:0032889	regulation of vacuole fusion, non-autophagic	IBA	biological process
GO:0004634	phosphopyruvate hydratase activity	IBA	molecular function
GO:0006096	glycolytic process	IBA	biological process
GO:0000015	phosphopyruvate hydratase complex	IEA	cellular component
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0004634	phosphopyruvate hydratase activity	IEA	molecular function
GO:0006096	glycolytic process	IEA	biological process
GO:0016829	lyase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006096	glycolytic process	IEA	biological process
GO:0004634	phosphopyruvate hydratase activity	TAS	molecular function
GO:0004634	phosphopyruvate hydratase activity	IEA	molecular function
GO:0061621	canonical glycolysis	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006094	gluconeogenesis	TAS	biological process
GO:0043403	skeletal muscle tissue regeneration	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0004634	phosphopyruvate hydratase activity	IEA	molecular function
GO:0004634	phosphopyruvate hydratase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006096	glycolytic process	IEA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0000015	phosphopyruvate hydratase complex	IBA	cellular component
GO:0032889	regulation of vacuole fusion, non-autophagic	IBA	biological process
GO:0004634	phosphopyruvate hydratase activity	IBA	molecular function
GO:0006096	glycolytic process	IBA	biological process
GO:0000015	phosphopyruvate hydratase complex	IEA	cellular component
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0004634	phosphopyruvate hydratase activity	IEA	molecular function
GO:0006096	glycolytic process	IEA	biological process
GO:0016829	lyase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006096	glycolytic process	IEA	biological process
GO:0004634	phosphopyruvate hydratase activity	TAS	molecular function
GO:0004634	phosphopyruvate hydratase activity	IEA	molecular function
GO:0061621	canonical glycolysis	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006094	gluconeogenesis	TAS	biological process
GO:0043403	skeletal muscle tissue regeneration	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0004634	phosphopyruvate hydratase activity	IEA	molecular function
GO:0004634	phosphopyruvate hydratase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006096	glycolytic process	IEA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa03018	RNA degradation
hsa04066	HIF-1 signaling pathway
hsa01230	Biosynthesis of amino acids
hsa00010	Glycolysis / Gluconeogenesis

Diseases

Associated diseases	References
Glycogen storage disease	KEGG:H00069
Muscle glycogen storage disease	KEGG:H01762
Glycogen storage disease type XIII	KEGG:H01953
Glycogen storage disease	KEGG:H00069
Muscle glycogen storage disease	KEGG:H01762
Glycogen storage disease type XIII	KEGG:H01953
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male factor infertility	MIK: 29961538
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray