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Gene Model: Eno3

NomenclatureGenomic Location
SymbolEno3Chromosome2
NameBeta-enolaseLinkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates2: 51 Mbp

Molecular Function

Appears to have a function in striated muscle development and regeneration.

2-phospho-D-glycerate = phosphoenolpyruvate + H2O.

Molecular Function Terms:

binding
   ion binding
      cation binding
         metal ion binding
            magnesium ion binding
   protein binding
      protein dimerization activity
         protein heterodimerization activity
         protein homodimerization activity

catalytic activity
   lyase activity
      carbon-oxygen lyase activity
         hydro-lyase activity
            phosphopyruvate hydratase activity

Human Disease Association

Defects in ENO3 are the cause of glycogen storage disease type 13 (GSD13) [MIM:612932]. A metabolic disorder that results in exercise-induced myalgias, generalized muscle weakness and fatigability. It is characterized by increased serum creatine kinase and decreased enolase 3 activity. Dramatically reduced protein levels with focal sarcoplasmic accumulation of glycogen-beta particles are detected on ultrastructural analysis.

Predicted Transcript
     1 ATCAGCGTCGTCGAGCAGGAGAAGATCGACAAGATCATGATCGACTTGGACGGGACGGAG
    61 AACAAGTCCAAGTTTGGGGCCAACGCCATCCTGGGGGTCTCCCTGGCCGTGTGCAAGGCC
   121 GGCGCGGCCGAGAAGGGGGTCCCGCTCTACCGCCACATCGCAGACCTGGCCGGCAACAAG
   181 GAGCTCATCCTGCCCGTCCCGGCCTTCAACGTGATCAACGGGGGCTCGCACGCGGGGAAC
   241 AAGCTGGCCATGCAGGAGTTCATGATCCTGCCGGTGGGGGCCAGCACCTTCAAGGAGGCC
   301 ATGCGCATCGGGGCCGAGGTCTACCACAACCTGAAGGCCGTCATCAAGAGCAAGTATGGG
   361 AAGGACGCCACCAACGTGGGCGACGAGGGCGGCTTCGCCCCCAACATCCTGGAGAACAAC

Predicted Protein Product
ISVVEQEKIDKIMIDLDGTENKSKFGANAILGVSLAVCKAGAAEKGVPLYRHIADLAGNK
ELILPVPAFNVINGGSHAGNKLAMQEFMILPVGASTFKEAMRIGAEVYHNLKAVIKSKYG
KDATNVGDEGGFAPNILENN
Protein Alignment to Mouse
sp|P21550|ENOB_MOUSE Beta-enolase OS=Mus musculus GN=Eno3 PE=1 SV=3
      MGI:95395 Eno3 enolase 3, beta muscle (Chr 11)
        Length = 434

 Score = 669 (240.6 bits), Expect = 1.9e-66, P = 1.9e-66
 Identities = 128/140 (91%), Positives = 137/140 (97%)

Query:     1 ISVVEQEKIDKIMIDLDGTENKSKFGANAILGVSLAVCKAGAAEKGVPLYRHIADLAGNK 60
             +SVV+QEK+DK MI+LDGTENKSKFGANAILGVSLAVCKAGAAEKGVPLYRHIADLAGN 
Sbjct:    82 LSVVDQEKVDKFMIELDGTENKSKFGANAILGVSLAVCKAGAAEKGVPLYRHIADLAGNP 141

Query:    61 ELILPVPAFNVINGGSHAGNKLAMQEFMILPVGASTFKEAMRIGAEVYHNLKAVIKSKYG 120
             +L+LPVPAFNVINGGSHAGNKLAMQEFMILPVGAS+FKEAMRIGAEVYH+LK VIK+KYG
Sbjct:   142 DLVLPVPAFNVINGGSHAGNKLAMQEFMILPVGASSFKEAMRIGAEVYHHLKGVIKAKYG 201

Query:   121 KDATNVGDEGGFAPNILENN 140
             KDATNVGDEGGFAPNILENN
Sbjct:   202 KDATNVGDEGGFAPNILENN 221