ENO3
entrez
2027
canonical
uniprot
P13929
canonical
ensembl
ENSG00000108515
resolver
ensp
ENSP00000324105
resolver
ensp
ENSP00000430055
resolver
ensp
ENSP00000430636
resolver
ensp
ENSP00000639723
resolver
ensp
ENSP00000639725
resolver
genesymbol
ENO3
resolver
hgnc
HGNC:3354
resolver
uniprot
B4DUI6
resolver
uniprot
B4DUM6
resolver
uniprot
D3DTL2
resolver
uniprot
E7ENK8
resolver
uniprot
Q96AE2
resolver
uniprot_entry
ENOB_HUMAN
resolver
uniprot_sec
B4DUI6
resolver
uniprot_sec
B4DUM6
resolver
uniprot_sec
D3DTL2
resolver
uniprot_sec
E7ENK8
resolver
uniprot_sec
Q96AE2
resolver
amino_acid_sequence
MAMQKIFAREILDSRGNPTVEVDLHTAKGRFRAAVPSGASTGIYEALELRDGDKGRYLGKGVLKAVENINNTLGPALLQKKLSVVDQEKVDKFMIELDGTENKSKFGANAILGVSLAVCKAGAAEKGVPLYRHIADLAGNPDLILPVPAFNVINGGSHAGNKLAMQEFMILPVGASSFKEAMRIGAEVYHHLKGVIKAKYGKDATNVGDEGGFAPNILENNEALELLKTAIQAAGYPDKVVIGMDVAASEFYRNGKYDLDFKSPDDPARHITGEKLGELYKSFIKNYPVVSIEDPFDQDDWATWTSFLSGVNIQIVGDDLTVTNPKRIAQAVEKKACNCLLLKVNQIGSVTESIQACKLAQSNGWGVMVSHRSGETEDTFIADLVVGLCTGQIKTGAPCRSERLAKYNQLMRIEEALGDKAIFAGRKFRNPKAK
uniprot
proteins
disease_involvement
DISEASE: Glycogen storage disease 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. {ECO:0000269|PubMed:11506403}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.2.1.11
uniprot
proteins
function
FUNCTION: Enolase that catalyzes the conversion of 2-phosphoglycerate to phosphoenolpyruvate in glycolysis and the reverse reaction in gluconeogenesis. Appears to have a function in striated muscle development and regeneration. {ECO:0000250|UniProtKB:P15429}.
uniprot
proteins
mass_dalton
46987
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 4/5. {ECO:0000250|UniProtKB:P15429}.
uniprot
proteins
protein_family
Enolase family
uniprot
proteins
pubmed
11506403
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15188056
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
1840492
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
2336366
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2587223
uniprot
proteins
pubmed
8513787
uniprot
proteins
sequence_length
434
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Note=Localized to the Z line. Some colocalization with CKM at M-band (By similarity). {ECO:0000250}.
uniprot
proteins