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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 muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jul 2010]
ENO3 (Enolase 3) is a Protein Coding gene. Diseases associated with ENO3 include Glycogen Storage Disease Xiii and Glycogen Storage Disease. Among its related pathways are Glucose metabolism and Carbon metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and magnesium ion binding. An important paralog of this gene is ENO2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000287 | magnesium ion binding | IEA | -- |
GO:0004634 | phosphopyruvate hydratase activity | TAS,IBA | 21873635 |
GO:0016829 | lyase activity | IEA | -- |
GO:0042802 | identical protein binding | IEA | -- |
GO:0044877 | protein-containing complex binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000015 | phosphopyruvate hydratase complex | IBA | 21873635 |
GO:0005615 | extracellular space | HDA | 22664934 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glucose metabolism |
Glycolysis and gluconeogenesis (short map)
.58
.52
|
.46
|
2 | Carbon metabolism | ||
3 | Metabolism |
.40
|
|
4 | HIF-1 signaling pathway | ||
5 | Deadenylation-dependent mRNA decay |
.46
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006094 | gluconeogenesis | TAS | -- |
GO:0006096 | glycolytic process | IBA | 21873635 |
GO:0007568 | aging | IEA | -- |
GO:0021762 | substantia nigra development | HEP | -- |
GO:0032889 | regulation of vacuole fusion, non-autophagic | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
Water | Approved | Pharma | 0 | |||
2-phospho-D-glyceric acid | Experimental | Pharma | Target | 0 | ||
phosphoenolpyruvate | Experimental | Pharma | Target | 0 | ||
Phosphoglycolic acid | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
AP-III-a4 | 1177827-73-4 |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: |
ExUns: | 11b | ^ | 12 | ^ | 13 |
---|---|---|---|---|---|
SP1: | |||||
SP2: | |||||
SP3: | |||||
SP4: | |||||
SP5: | |||||
SP6: | |||||
SP7: | |||||
SP8: | |||||
SP9: | |||||
SP10: | |||||
SP11: | |||||
SP12: | |||||
SP13: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ENO3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ENO3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Eno3 30 |
|
||
Dog (Canis familiaris) |
Mammalia | ENO3 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ENO3 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Eno3 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ENO3 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ENO3 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | eno3 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Eno 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | enol-1 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ENO1 31 33 |
|
ManyToMany | |
ENO2 31 |
|
ManyToMany | |||
ERR2 31 |
|
ManyToMany | |||
ERR3 31 |
|
ManyToMany | |||
ERR1 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10219 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
835452 | Uncertain Significance: Glycogen storage disease due to muscle beta-enolase deficiency | 4,953,109(+) |
G/A NM_053013.4(ENO3):c.240G>A (p.Lys80=) |
SYNONYMOUS_VARIANT,INTRON | |
843869 | Uncertain Significance: Glycogen storage disease due to muscle beta-enolase deficiency | 4,956,834(+) |
A/C NM_053013.4(ENO3):c.1180A>C (p.Lys394Gln) |
MISSENSE | |
850528 | Uncertain Significance: Glycogen storage disease due to muscle beta-enolase deficiency | 4,956,852(+) |
C/T NM_053013.4(ENO3):c.1198C>T (p.Arg400Cys) |
MISSENSE | |
855024 | Uncertain Significance: Glycogen storage disease due to muscle beta-enolase deficiency | 4,955,123(+) |
A/G NM_053013.4(ENO3):c.493A>G (p.Met165Val) |
MISSENSE | |
858403 | Uncertain Significance: Glycogen storage disease due to muscle beta-enolase deficiency | 4,951,878(+) |
A/G NM_053013.4(ENO3):c.49A>G (p.Asn17Asp) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
glycogen storage disease xiii |
|
|
glycogen storage disease |
|
|
cataract 17, multiple types |
|
|
metabolic myopathy |
|
|
lymphocytic hypophysitis |
|
|