| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Appears to have a function in striated muscle development and regeneration. CATALYTIC ACTIVITY: 2-phospho-D-glycerate = phosphoenolpyruvate + H(2)O. COFACTOR: Magnesium. Required for catalysis and for stabilizing the dimer. PATHWAY: Carbohydrate degradation; glycolysis; pyruvate from D- glyceraldehyde 3-phosphate: step 4/5. SUBUNIT: Mammalian enolase is composed of 3 isozyme subunits, alpha, beta and gamma, which can form homodimers or heterodimers which are cell-type and development-specific. Interacts with PNKD. SUBCELLULAR LOCATION: Cytoplasm. Note=Localized to the Z line. Some colocalization with CKM at M-band (By similarity). ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P13929-1; Sequence=Displayed; Name=2; IsoId=P13929-2; Sequence=VSP_037753; Note=No experimental confirmation available; Name=3; IsoId=P13929-3; Sequence=VSP_037752; Note=No experimental confirmation available; 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. DEVELOPMENTAL STAGE: During ontogenesis, there is a transition from the alpha/alpha homodimer to the alpha/beta heterodimer in striated muscle cells, and to the alpha/gamma heterodimer in nerve cells. DISEASE: 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. SIMILARITY: Belongs to the enolase family. GENE SYNONYMS:ENO3. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 434 AA; 46932 MW; 366B189FFEFE2644 CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:3354,
urn:biopax:RelationshipXref:NCBI GENE_2027,
urn:biopax:RelationshipXref:REFSEQ_NP_001180432,
urn:biopax:RelationshipXref:REFSEQ_NP_001967,
urn:biopax:RelationshipXref:REFSEQ_NP_443739,
urn:biopax:UnificationXref:UNIPROT_B4DUI6,
urn:biopax:UnificationXref:UNIPROT_B4DUM6,
urn:biopax:UnificationXref:UNIPROT_P13929,
urn:biopax:UnificationXref:UNIPROT_Q96AE2
|
| biopax3:displayName |
ENOB_HUMAN
|
| biopax3:name |
2-phospho-D-glycerate hydro-lyase,
4.2.1.11,
ENO3,
Enolase 3,
MSE,
Muscle-specific enolase,
Skeletal muscle enolase
|
| biopax3:organism | |
| biopax3:sequence |
MAMQKIFAREILDSRGNPTVEVDLHTAKGRFRAAVPSGASTGIYEALELRDGDKGRYLGKGVLKAVENINSTLGPALLQKKLSVADQEKVDKFMIELDGTENKSKFGANAILGVSLAVCKAGAAEKGVPLYRHIADLAGNPDLILPVPAFNVINGGSHAGNKLAMQEFMILPVGASSFKEAMRIGAEVYHHLKGVIKAKYGKDATNVGDEGGFAPNILENNEALELLKTAIQAAGYPDKVVIGMDVAASEFYRNGKYDLDFKSPDDPARHITGEKLGELYKSFIKNYPVVSIEDPFDQDDWATWTSFLSGVNIQIVGDDLTVTNPKRIAQAVEKKACNCLLLKVNQIGSVTESIQACKLAQSNGWGVMVSHRSGETEDTFIADLVVGLCTGQIKTGAPCRSERLAKYNQLMRIEEALGDKAIFAGRKFRNPKAK
|
| biopax3:standardName |
Beta-enolase
|