Human Gene ENO3 (uc002gac.4) Description and Page Index
  Description: Homo sapiens enolase 3 (beta, muscle) (ENO3), transcript variant 1, mRNA.
RefSeq Summary (NM_001976): 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].
Transcript (Including UTRs)
   Position: hg19 chr17:4,854,384-4,860,426 Size: 6,043 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr17:4,855,125-4,860,342 Size: 5,218 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:4,854,384-4,860,426)mRNA (may differ from genome)Protein (434 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ENOB_HUMAN
DESCRIPTION: RecName: Full=Beta-enolase; EC=4.2.1.11; AltName: Full=2-phospho-D-glycerate hydro-lyase; AltName: Full=Enolase 3; AltName: Full=Muscle-specific enolase; Short=MSE; AltName: Full=Skeletal muscle enolase;
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).
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.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ENO3
CDC HuGE Published Literature: ENO3

-  MalaCards Disease Associations
  MalaCards Gene Search: ENO3
Diseases sorted by gene-association score: glycogen storage disease xiii* (1700), fish allergy (11), discoid lupus erythematosus (9), coenzyme q10 deficiency disease (7), lymphocytic hypophysitis (7), muscle disorders (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 990.48 RPKM in Muscle - Skeletal
Total median expression: 1338.42 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -50.70138-0.367 Picture PostScript Text
3' UTR -27.6084-0.329 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000941 - Enolase
IPR020810 - Enolase_C
IPR020809 - Enolase_CS
IPR020811 - Enolase_N

Pfam Domains:
PF00113 - Enolase, C-terminal TIM barrel domain
PF03952 - Enolase, N-terminal domain
PF07476 - Methylaspartate ammonia-lyase C-terminus
PF13378 - Enolase C-terminal domain-like

SCOP Domains:
51604 - Enolase C-terminal domain-like
54826 - Enolase N-terminal domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2XSX
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P13929
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologGenome Browser
 Gene Details   Gene Details
 Gene Sorter   Gene Sorter
 RGDEnsembl  SGD
 Protein SequenceProtein Sequence  Protein Sequence
 AlignmentAlignment  Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000287 magnesium ion binding
GO:0004634 phosphopyruvate hydratase activity
GO:0016829 lyase activity
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0006094 gluconeogenesis
GO:0006096 glycolytic process
GO:0007568 aging
GO:0042493 response to drug
GO:0043403 skeletal muscle tissue regeneration
GO:0061621 canonical glycolysis

Cellular Component:
GO:0000015 phosphopyruvate hydratase complex
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK309864 - Homo sapiens cDNA, FLJ99905.
AK300662 - Homo sapiens cDNA FLJ53926 complete cds, highly similar to Beta-enolase (EC 4.2.1.11).
AK300673 - Homo sapiens cDNA FLJ53099 complete cds, highly similar to Beta-enolase (EC 4.2.1.11).
AK300709 - Homo sapiens cDNA FLJ50229 complete cds, highly similar to Beta-enolase (EC 4.2.1.11).
JD368178 - Sequence 349202 from Patent EP1572962.
BC017249 - Homo sapiens enolase 3 (beta, muscle), mRNA (cDNA clone MGC:29581 IMAGE:4902149), complete cds.
DQ892622 - Synthetic construct clone IMAGE:100005252; FLH188395.01X; RZPDo839B1173D enolase 3 (beta, muscle) (ENO3) gene, encodes complete protein.
DQ895862 - Synthetic construct Homo sapiens clone IMAGE:100010322; FLH188391.01L; RZPDo839B1163D enolase 3 (beta, muscle) (ENO3) gene, encodes complete protein.
X51957 - H.sapiens mRNA for muscle specific enolase (MSE) (EC 4.2.1.11).
CU677883 - Synthetic construct Homo sapiens gateway clone IMAGE:100017658 5' read ENO3 mRNA.
KJ896768 - Synthetic construct Homo sapiens clone ccsbBroadEn_06162 ENO3 gene, encodes complete protein.
X16504 - Human ENO3 mRNA for beta-enolase (EC 4.2.1.11).
AL359213 - Homo sapiens EST from chimeric clone 629286, full insert 3' end.
JD133612 - Sequence 114636 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00010 - Glycolysis / Gluconeogenesis
hsa01100 - Metabolic pathways
hsa03018 - RNA degradation

Reactome (by CSHL, EBI, and GO)

Protein P13929 (Reactome details) participates in the following event(s):

R-HSA-70494 Phosphoenolpyruvate + H2O <=> 2-Phospho-D-glycerate
R-HSA-71660 2-Phospho-D-glycerate <=> Phosphoenolpyruvate + H2O
R-HSA-70263 Gluconeogenesis
R-HSA-70171 Glycolysis
R-HSA-70326 Glucose metabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B4DUI6, B4DUM6, D3DTL2, E7ENK8, ENOB_HUMAN, NM_001976, NP_443739, P13929, Q96AE2
UCSC ID: uc002gac.4
RefSeq Accession: NM_001976
Protein: P13929 (aka ENOB_HUMAN)
CCDS: CCDS11062.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001976.4
exon count: 12CDS single in 3' UTR: no RNA size: 1536
ORF size: 1305CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1899.50frame shift in genome: no % Coverage: 99.41
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.