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ENO3 enolase 3 [ Homo sapiens (human) ]

Gene ID: 2027, updated on 8-Jul-2018
Official Symbol
ENO3provided by HGNC
Official Full Name
enolase 3provided by HGNC
Primary source
HGNC:HGNC:3354
See related
Ensembl:ENSG00000108515 MIM:131370; Vega:OTTHUMG00000099394
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MSE; GSD13
Summary
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]
Expression
Biased expression in heart (RPKM 88.5), esophagus (RPKM 45.6) and 2 other tissues See more
Orthologs
See ENO3 in Genome Data Viewer
Location:
17p13.2
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (4949182..4957131)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4853404..4860426)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 11 Neighboring gene ring finger protein 167 Neighboring gene profilin 1 Neighboring gene sperm associated antigen 7 Neighboring gene calmodulin binding transcription activator 2 Neighboring gene microRNA 6864

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Biosynthesis of amino acids, organism-specific biosystem (from KEGG)
    Biosynthesis of amino acids, organism-specific biosystemThis map presents a modular architecture of the biosynthesis pathways of twenty amino acids, which may be viewed as consisting of the core part and its extensions. The core part is the KEGG module fo...
  • Biosynthesis of amino acids, conserved biosystem (from KEGG)
    Biosynthesis of amino acids, conserved biosystemThis map presents a modular architecture of the biosynthesis pathways of twenty amino acids, which may be viewed as consisting of the core part and its extensions. The core part is the KEGG module fo...
  • Carbon metabolism, organism-specific biosystem (from KEGG)
    Carbon metabolism, organism-specific biosystemCarbon metabolism is the most basic aspect of life. This map presents an overall view of central carbon metabolism, where the number of carbons is shown for each compound denoted by a circle, excludi...
  • Carbon metabolism, conserved biosystem (from KEGG)
    Carbon metabolism, conserved biosystemCarbon metabolism is the most basic aspect of life. This map presents an overall view of central carbon metabolism, where the number of carbons is shown for each compound denoted by a circle, excludi...
  • Gluconeogenesis, organism-specific biosystem (from REACTOME)
    Gluconeogenesis, organism-specific biosystemThe reactions of gluconeogenesis convert mitochondrial pyruvate to cytosolic glucose 6-phosphate which in turn can be hydrolyzed to glucose and exported from the cell. Gluconeogenesis is confined to ...
  • Gluconeogenesis, oxaloacetate => fructose-6P, organism-specific biosystem (from KEGG)
    Gluconeogenesis, oxaloacetate => fructose-6P, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Gluconeogenesis, oxaloacetate => fructose-6P, conserved biosystem (from KEGG)
    Gluconeogenesis, oxaloacetate => fructose-6P, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Glucose metabolism, organism-specific biosystem (from REACTOME)
    Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
  • Glycolysis, organism-specific biosystem (from REACTOME)
    Glycolysis, organism-specific biosystemThe reactions of glycolysis (e.g., van Wijk and van Solinge 2005) convert glucose 6-phosphate to pyruvate. The entire process is cytosolic. Glucose 6-phosphate is reversibly isomerized to form fructo...
  • Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, organism-specific biosystem (from KEGG)
    Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, conserved biosystem (from KEGG)
    Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Glycolysis / Gluconeogenesis, organism-specific biosystem (from KEGG)
    Glycolysis / Gluconeogenesis, organism-specific biosystemGlycolysis is the process of converting glucose into pyruvate and generating small amounts of ATP (energy) and NADH (reducing power). It is a central pathway that produces important precursor metabol...
  • Glycolysis / Gluconeogenesis, conserved biosystem (from KEGG)
    Glycolysis / Gluconeogenesis, conserved biosystemGlycolysis is the process of converting glucose into pyruvate and generating small amounts of ATP (energy) and NADH (reducing power). It is a central pathway that produces important precursor metabol...
  • Glycolysis and Gluconeogenesis, organism-specific biosystem (from WikiPathways)
    Glycolysis and Gluconeogenesis, organism-specific biosystemGlycolysis is the metabolic pathway that converts glucose C6H12O6, into pyruvate, CH3COCOO? + H+. The free energy released in this process is used to form the ATP and NADH. Gluconeogenesis is a metab...
  • Glycolysis, core module involving three-carbon compounds, organism-specific biosystem (from KEGG)
    Glycolysis, core module involving three-carbon compounds, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Glycolysis, core module involving three-carbon compounds, conserved biosystem (from KEGG)
    Glycolysis, core module involving three-carbon compounds, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • HIF-1 signaling pathway, organism-specific biosystem (from KEGG)
    HIF-1 signaling pathway, organism-specific biosystemHypoxia-inducible factor 1 (HIF-1) is a transcription factor that functions as a master regulator of oxygen homeostasis. It consists of two subunits: an inducibly-expressed HIF-1alpha subunit and a c...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • RNA degradation, organism-specific biosystem (from KEGG)
    RNA degradation, organism-specific biosystemThe correct processing, quality control and turnover of cellular RNA molecules are critical to many aspects in the expression of genetic information. In eukaryotes, two major pathways of mRNA decay e...
  • RNA degradation, conserved biosystem (from KEGG)
    RNA degradation, conserved biosystemThe correct processing, quality control and turnover of cellular RNA molecules are critical to many aspects in the expression of genetic information. In eukaryotes, two major pathways of mRNA decay e...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphopyruvate hydratase activity TAS
Traceable Author Statement
more info
 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
aging IEA
Inferred from Electronic Annotation
more info
 
canonical glycolysis TAS
Traceable Author Statement
more info
 
gluconeogenesis TAS
Traceable Author Statement
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle tissue regeneration IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular space HDA PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
phosphopyruvate hydratase complex IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
Preferred Names
beta-enolase
Names
2-phospho-D-glycerate hydrolyase
enolase 3 (beta, muscle)
muscle enriched enolase
muscle-specific enolase
skeletal muscle enolase
NP_001180432.1
NP_001967.3
NP_443739.3
XP_005256578.1
XP_011522031.1
XP_016879835.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012063.2 RefSeqGene

    Range
    9999..16041
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001193503.1NP_001180432.1  beta-enolase isoform 2

    See identical proteins and their annotated locations for NP_001180432.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks two exons in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
    Source sequence(s)
    AK300709, DA082822, F26358
    Consensus CDS
    CCDS54070.1
    UniProtKB/Swiss-Prot
    P13929
    Related
    ENSP00000430636.1, OTTHUMP00000227666, ENST00000519584.5, OTTHUMT00000380511
    Conserved Domains (1) summary
    PLN00191
    Location:2388
    PLN00191; enolase
  2. NM_001976.4NP_001967.3  beta-enolase isoform 1

    See identical proteins and their annotated locations for NP_001967.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC004771, AU143784, BC017249, BJ995304, F26358
    Consensus CDS
    CCDS11062.1
    UniProtKB/Swiss-Prot
    P13929
    Related
    ENSP00000324105.6, OTTHUMP00000125242, ENST00000323997.10, OTTHUMT00000216851
    Conserved Domains (1) summary
    PLN00191
    Location:2431
    PLN00191; enolase
  3. NM_053013.3NP_443739.3  beta-enolase isoform 1

    See identical proteins and their annotated locations for NP_443739.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    BC017249, DA082822, F26358
    Consensus CDS
    CCDS11062.1
    UniProtKB/Swiss-Prot
    P13929
    Related
    ENSP00000431087.1, OTTHUMP00000227667, ENST00000518175.1, OTTHUMT00000380513
    Conserved Domains (1) summary
    PLN00191
    Location:2431
    PLN00191; enolase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    4949182..4957131
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523729.1XP_011522031.1  beta-enolase isoform X2

    See identical proteins and their annotated locations for XP_011522031.1

    UniProtKB/Swiss-Prot
    P13929
    Conserved Domains (1) summary
    PLN00191
    Location:2431
    PLN00191; enolase
  2. XM_005256521.2XP_005256578.1  beta-enolase isoform X1

    See identical proteins and their annotated locations for XP_005256578.1

    Conserved Domains (2) summary
    PLN00191
    Location:4440
    PLN00191; enolase
    cd03313
    Location:14424
    enolase; Enolase: Enolases are homodimeric enzymes that catalyse the reversible dehydration of 2-phospho-D-glycerate to phosphoenolpyruvate as part of the glycolytic and gluconeogenesis pathways. The reaction is facilitated by the presence of metal ions.
  3. XM_017024346.2XP_016879835.1  beta-enolase isoform X2

    UniProtKB/Swiss-Prot
    P13929
    Conserved Domains (1) summary
    PLN00191
    Location:2431
    PLN00191; enolase
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