ENO3
Beta-enolase
Also known as: ENOB_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P13929
- Gene
- ENO3
- Ensembl
- ENSG00000108515
- Chromosome
- 17
- Canonical length
- 434 aa
- Protein class
- Candidate cardiovascular disease genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Plasma membrane,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
434 residues, UniProt reviewed canonical sequence.
>P13929|ENO3
1 MAMQKIFARE ILDSRGNPTV EVDLHTAKGR FRAAVPSGAS TGIYEALELR DGDKGRYLGK
61 GVLKAVENIN NTLGPALLQK KLSVVDQEKV DKFMIELDGT ENKSKFGANA ILGVSLAVCK
121 AGAAEKGVPL YRHIADLAGN PDLILPVPAF NVINGGSHAG NKLAMQEFMI LPVGASSFKE
181 AMRIGAEVYH HLKGVIKAKY GKDATNVGDE GGFAPNILEN NEALELLKTA IQAAGYPDKV
241 VIGMDVAASE FYRNGKYDLD FKSPDDPARH ITGEKLGELY KSFIKNYPVV SIEDPFDQDD
301 WATWTSFLSG VNIQIVGDDL TVTNPKRIAQ AVEKKACNCL LLKVNQIGSV TESIQACKLA
361 QSNGWGVMVS HRSGETEDTF IADLVVGLCT GQIKTGAPCR SERLAKYNQL MRIEEALGDK
421 AIFAGRKFRN PKAKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ENO3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.2
- Highest tissue expression
- 13,830 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 13,830 nTPM
- tongue: 10,054 nTPM
- heart muscle: 437 nTPM
- esophagus: 164 nTPM
- liver: 101 nTPM
- salivary gland: 99 nTPM
Single-cell type
- thymic myoid cells: 445 nCPM
- cardiomyocytes: 212 nCPM
- myonuclei: 164 nCPM
- epicardial cells: 150 nCPM
- mesothelial cells: 87 nCPM
- plasma cells: 82 nCPM
Immune cell
- total PBMC: 84 nTPM
- eosinophil: 51 nTPM
- non-classical monocyte: 48 nTPM
- T-reg: 43 nTPM
- intermediate monocyte: 42 nTPM
- myeloid DC: 38 nTPM
Brain region
- cerebellum: 13 nTPM
- midbrain: 9 nTPM
- choroid plexus: 8.9 nTPM
- white matter: 8.7 nTPM
- pons: 8.1 nTPM
- medulla oblongata: 7.8 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ENO3.
Disease | AllUniProt
Conditions ENO3 is implicated in, by any mechanism.
- Glycogen storage disease 13 (GSD13) MIM:612932
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 411 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Glycogen storage disease due to muscle beta-enolase deficiency
Disease | ImmuneIEDB
Conditions an epitope on ENO3 was assayed in.
- multiple sclerosis B cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.69
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.93
- DepMap mean gene effect
- 0.03
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ENO3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ENO3 as an antibody target. Whether an autoantibody or antibody against ENO3 could matter depends on whether native ENO3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ENO3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ENO3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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