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Aliases for ENO3 Gene

Aliases for ENO3 Gene

  • Enolase 3 (Beta, Muscle) 2 3
  • Muscle-Specific Enolase 3 4
  • Skeletal Muscle Enolase 3 4
  • EC 4.2.1.11 4 64
  • GSD13 3 6
  • MSE 3 4
  • 2-Phospho-D-Glycerate Hydro-Lyase 4
  • 2-Phospho-D-Glycerate Hydrolyase 3
  • Enolase 3, (Beta, Muscle) 2
  • Beta-Enolase 3
  • Enolase 3 4
  • EC 4.2.1 64

External Ids for ENO3 Gene

Summaries for ENO3 Gene

Entrez Gene Summary for ENO3 Gene

  • 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]

GeneCards Summary for ENO3 Gene

ENO3 (Enolase 3 (Beta, Muscle)) is a Protein Coding gene. Diseases associated with ENO3 include coenzyme q10 deficiency disease and lymphocytic hypophysitis. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include protein homodimerization activity and magnesium ion binding. An important paralog of this gene is ENO2.

UniProtKB/Swiss-Prot for ENO3 Gene

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

Gene Wiki entry for ENO3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENO3 Gene

Genomics for ENO3 Gene

Genomic Location for ENO3 Gene

Start:
4,948,092 bp from pter
End:
4,957,131 bp from pter
Size:
9,040 bases
Orientation:
Plus strand

Genomic View for ENO3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ENO3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENO3 Gene

Regulatory Elements for ENO3 Gene

Proteins for ENO3 Gene

  • Protein details for ENO3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13929-ENOB_HUMAN
    Recommended name:
    Beta-enolase
    Protein Accession:
    P13929
    Secondary Accessions:
    • B4DUI6
    • B4DUM6
    • D3DTL2
    • E7ENK8
    • Q96AE2

    Protein attributes for ENO3 Gene

    Size:
    434 amino acids
    Molecular mass:
    46987 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Mg(2+) is required for catalysis and for stabilizing the dimer.;
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for ENO3 Gene

    Alternative splice isoforms for ENO3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ENO3 Gene

Proteomics data for ENO3 Gene at MOPED

Post-translational modifications for ENO3 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys394

Domains for ENO3 Gene

Protein Domains for ENO3 Gene

UniProtKB/Swiss-Prot:

ENOB_HUMAN
Family:
  • Belongs to the enolase family.:
    • P13929
genes like me logo Genes that share domains with ENO3: view

No data available for Gene Families for ENO3 Gene

Function for ENO3 Gene

Molecular function for ENO3 Gene

GENATLAS Biochemistry: enolase 3,beta subunit,muscle (2-phospho-D-glycerate hydratase),glycolysis,energy pathway
UniProtKB/Swiss-Prot CatalyticActivity: 2-phospho-D-glycerate = phosphoenolpyruvate + H(2)O
UniProtKB/Swiss-Prot Function: Appears to have a function in striated muscle development and regeneration

Enzyme Numbers (IUBMB) for ENO3 Gene

Gene Ontology (GO) - Molecular Function for ENO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004634 phosphopyruvate hydratase activity IEA --
GO:0042803 protein homodimerization activity IEA --
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with ENO3: view

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ENO3 Gene

Localization for ENO3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENO3 Gene

Cytoplasm. Note=Localized to the Z line. Some colocalization with CKM at M-band (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ENO3 Gene COMPARTMENTS Subcellular localization image for ENO3 gene
Compartment Confidence
cytosol 4
chloroplast 1
cytoskeleton 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ENO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000015 phosphopyruvate hydratase complex IEA --
GO:0005615 extracellular space IDA 22664934
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with ENO3: view

Pathways for ENO3 Gene

genes like me logo Genes that share pathways with ENO3: view

Pathways by source for ENO3 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for ENO3 Gene
1 BioSystems pathway for ENO3 Gene

UniProtKB/Swiss-Prot P13929-ENOB_HUMAN

  • Pathway: Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 4/5

Gene Ontology (GO) - Biological Process for ENO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006006 glucose metabolic process TAS --
GO:0006094 gluconeogenesis TAS --
GO:0006096 glycolytic process --
GO:0007568 aging IEA --
genes like me logo Genes that share ontologies with ENO3: view

Compounds for ENO3 Gene

(5) HMDB Compounds for ENO3 Gene

Compound Synonyms Cas Number PubMed IDs
2-Phospho-D-glyceric acid
  • 2-Phospho-D-glycerate
Not Available
3-Dehydroquinate
  • 3-Dehydroquinic acid
Not Available
Magnesium
  • Magnesium
7439-95-4
Phosphoenolpyruvic acid
  • 2-hydroxy-Acrylic acid dihydrogen phosphate
138-08-9
Water
  • Dihydrogen oxide
7732-18-5

(4) Drugbank Compounds for ENO3 Gene

(4) Novoseek inferred chemical compound relationships for ENO3 Gene

Compound -log(P) Hits PubMed IDs
2-phosphoglycerate 91.3 1
creatinine 25.4 8
glycogen 24.5 1
lactate 16.4 2
genes like me logo Genes that share compounds with ENO3: view

Transcripts for ENO3 Gene

Unigene Clusters for ENO3 Gene

Enolase 3 (beta, muscle):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ENO3 Gene

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:

Relevant External Links for ENO3 Gene

GeneLoc Exon Structure for
ENO3
ECgene alternative splicing isoforms for
ENO3

Expression for ENO3 Gene

mRNA expression in normal human tissues for ENO3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ENO3 Gene

This gene is overexpressed in Muscle - Skeletal (42.2) and Heart - Left Ventricle (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ENO3 Gene

SOURCE GeneReport for Unigene cluster for ENO3 Gene Hs.224171

mRNA Expression by UniProt/SwissProt for ENO3 Gene

P13929-ENOB_HUMAN
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
genes like me logo Genes that share expressions with ENO3: view

Orthologs for ENO3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ENO3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ENO3 36
  • 100 (n)
  • 100 (a)
ENO3 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ENO3 36
  • 92.32 (n)
  • 97.93 (a)
ENO3 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ENO3 36
  • 90.25 (n)
  • 98.39 (a)
ENO3 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eno3 36
  • 89.78 (n)
  • 97.7 (a)
Eno3 16
Eno3 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ENO3 37
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENO3 37
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eno3 36
  • 90.86 (n)
  • 98.16 (a)
lizard
(Anolis carolinensis)
Reptilia ENO3 37
  • 92 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii eno3 36
  • 76.77 (n)
  • 85.88 (a)
eno3 37
  • 79 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Eno 37
  • 63 (a)
OneToMany
Eno 38
  • 72 (a)
worm
(Caenorhabditis elegans)
Secernentea enol-1 37
  • 68 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENO1 37
  • 63 (a)
ManyToMany
ENO1 39
ENO2 37
  • 62 (a)
ManyToMany
ERR1 37
  • 59 (a)
ManyToMany
ERR2 37
  • 59 (a)
ManyToMany
ERR3 37
  • 59 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10219 37
  • 73 (a)
OneToMany
Species with no ortholog for ENO3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ENO3 Gene

ENSEMBL:
Gene Tree for ENO3 (if available)
TreeFam:
Gene Tree for ENO3 (if available)

Paralogs for ENO3 Gene

Paralogs for ENO3 Gene

Selected SIMAP similar genes for ENO3 Gene using alignment to 9 proteins:

Pseudogenes.org Pseudogenes for ENO3 Gene

genes like me logo Genes that share paralogs with ENO3: view

Variants for ENO3 Gene

Sequence variations from dbSNP and Humsavar for ENO3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs110703 -- 4,955,850(+) tctgc(C/T)ctgtc intron-variant
rs238238 - 4,953,081(+) CAACA(A/G)TACTC intron-variant, reference, missense
rs238239 - 4,953,285(+) CGTTG(C/T)GGATC intron-variant, missense, reference
rs238240 -- 4,953,517(+) CTGGG(C/G)CGGGC intron-variant
rs366577 -- 4,951,185(+) CAGGT(C/T)GGGTG intron-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for ENO3 Gene

Variant ID Type Subtype PubMed ID
nsv833347 CNV Loss 17160897
nsv833349 CNV Loss 17160897
nsv907619 CNV Loss 21882294
nsv907620 CNV Loss 21882294
nsv833350 CNV Loss 17160897
nsv907621 CNV Loss 21882294
esv2715561 CNV Deletion 23290073

Relevant External Links for ENO3 Gene

HapMap Linkage Disequilibrium report
ENO3
Human Gene Mutation Database (HGMD)
ENO3

Disorders for ENO3 Gene

(1) OMIM Diseases for ENO3 Gene (131370)

UniProtKB/Swiss-Prot

ENOB_HUMAN
  • 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 mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ENO3 Gene

(1) Novoseek inferred disease relationships for ENO3 Gene

Disease -log(P) Hits PubMed IDs
tumors 0 1

Relevant External Links for ENO3

Genetic Association Database (GAD)
ENO3
Human Genome Epidemiology (HuGE) Navigator
ENO3
genes like me logo Genes that share disorders with ENO3: view

Publications for ENO3 Gene

  1. Molecular structure of the human muscle-specific enolase gene (ENO3). (PMID: 1840492) Peshavaria M. … Day I.N.M. (Biochem. J. 1991) 3 4 23
  2. Nucleotide sequence of a cDNA encoding the human muscle-specific enolase (MSE). (PMID: 2336366) Cali L. … Giallongo A. (Nucleic Acids Res. 1990) 3 4 23
  3. Structural features of the human gene for muscle-specific enolase. Differential splicing in the 5'-untranslated sequence generates two forms of mRNA. (PMID: 8513787) Giallongo A. … Feo S. (Eur. J. Biochem. 1993) 3 4 23
  4. Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle. (PMID: 15188056) Li T.-B. … Gong L.-M. (Acta Biochim. Biophys. Sin. 2004) 3 4 23
  5. Candidate-gene testing for orphan limb-girdle muscular dystrophies. (PMID: 19472918) Aurino S. … Nigro V. (Acta Myol 2008) 3 49

Products for ENO3 Gene

  • Addgene plasmids for ENO3

Sources for ENO3 Gene

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